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Gene: Rnf216 MGI:1344349

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Gene Summary

Name:
ring finger protein 216
Synonyms:
UIP83,  F830018F18Rik,  Ubce7ip1,  2810055G22Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lymphocyte cell number Rnf216tm1b(EUCOMM)Wtsi HOM   Early adult 8.79×10-05
male infertility Rnf216tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased fasting circulating glucose level Rnf216tm1b(EUCOMM)Wtsi HOM   Early adult 3.44×10-05
increased monocyte cell number Rnf216tm1b(EUCOMM)Wtsi HOM Early adult 1.18×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Immunophenotyping

Panel A FCS file(s)

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel B FCS file(s)

5 Images

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X-ray

XRay Images Hind Leg and Hip

2 Images

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Histopathology

Images

5 Images

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Human diseases caused by Rnf216 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Rnf216 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gordon Holmes Syndrome
Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo... OMIM:212840
Cerebellar Ataxia-Hypogonadism Syndrome
Supernumerary nipple, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Decreased fer... ORPHA:1173

The table below shows human diseases predicted to be associated to Rnf216 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Spermatogenic Failure 17
Male infertility OMIM:617214
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Deleted in azoospermia
Azoospermia OMIM:400003
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia OMIM:615703
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia OMIM:616871
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Young Syndrome
Azoospermia OMIM:279000
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... ORPHA:753
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Female external genitalia in individual with 46,XY karyotype, Infertility, Hypothyroidism, Male p... OMIM:264300
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Ambiguous genitalia, Cryptorchidism, Hyp... ORPHA:752
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Azoospermia, Impotence, Diabetes mellitu... OMIM:235200
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Azoospermia ORPHA:2183
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis OMIM:619644
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... ORPHA:432
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... ORPHA:786
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Patent ductus arteriosus, Azoospermia OMIM:618300
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Deafness-Hypogonadism Syndrome
Delayed puberty, Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... ORPHA:280679
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Myotonic Dystrophy 2
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... OMIM:602668
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Male infertility, Primary testicular failure, Oligozoospermia, Abnormal... ORPHA:85450
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Lead Poisoning
Delayed puberty, Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abn... ORPHA:330015
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Portal hypertension, Chr... ORPHA:465508
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... OMIM:226990
Hemochromatosis, Type 3
Anemia, Impotence, Lymphopenia, Amenorrhea, Hypogonadotropic hypogonadism, Neutropenia OMIM:604250
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegal... OMIM:612541
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni... OMIM:620565
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Azoospermia, Abnormality of the hypothal... ORPHA:300298
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Gordon Holmes Syndrome
Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo... OMIM:212840
Gapo Syndrome
Amenorrhea, Dysmenorrhea, Oligozoospermia, Hypogonadism ORPHA:2067
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c OMIM:618858
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... ORPHA:361
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D... OMIM:619846
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Elevated circulating hepatic transaminase concentration, Hy... OMIM:137920
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c OMIM:606176
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to... ORPHA:3464
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Diabetes mellitus, Oligozoospermia, Clitoral hypoplasia OMIM:614813
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c OMIM:609812
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Papillary cystadenoma of the epididymis, Epididymal c... OMIM:193300
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Diabetes mellitus ORPHA:125
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Glycosuria, Hyperglycemia, Transient neonatal diabetes me... ORPHA:552
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Diphallia
Penoscrotal transposition, Epispadias, Bifid penis, Hypospadias, Ectopic scrotum, Abnormal sperma... ORPHA:227
Cerebellar Ataxia-Hypogonadism Syndrome
Supernumerary nipple, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Decreased fer... ORPHA:1173
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Type I diabetes mellitus, Anemia, Lymphopenia OMIM:620365
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Lymphopenia OMIM:620443
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Pancreatic islet ... ORPHA:892
Tetrasomy 9P
Jaundice, Infertility, Oligozoospermia, Absent gallbladder, Cryptorchidism, Micropenis ORPHA:3310
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Ataxia-Telangiectasia
Glucose intolerance, Abnormal spermatogenesis, Hypoplasia of the thymus, T lymphocytopenia, Femal... OMIM:208900
Cystic Fibrosis
Exocrine pancreatic insufficiency, Absent vas deferens, Male infertility, Elevated circulating he... ORPHA:586
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... ORPHA:273
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia OMIM:301110
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells ORPHA:3063
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low T cell recept... OMIM:602450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... OMIM:600802
Alström Syndrome
Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Primary h... ORPHA:64
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... ORPHA:35078
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Varicocele, Epididymal cyst, Cryptorchidism OMIM:136140
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Varicocele, Epididymal cyst, Cryptorchidism ORPHA:2044
Cystinosis, Nephropathic
Delayed puberty, Male infertility, Primary hypothyroidism, Hypohidrosis, Diabetes mellitus, Exocr... OMIM:219800
Cystic Fibrosis
Exocrine pancreatic insufficiency, Male infertility, Pancreatitis OMIM:219700
Noonan Syndrome 1
Male infertility, Hypospadias, Hypogonadism, Patent ductus arteriosus, Cryptorchidism OMIM:163950
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological process term dysplasia Rnf216tm1b(EUCOMM)Wtsi HOM Early adult
Epididymis - MPATH pathological process term aspermia Rnf216tm1b(EUCOMM)Wtsi HOM Early adult
Testis - MPATH pathological process term spermatogenesis defect Rnf216tm1b(EUCOMM)Wtsi HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rnf216.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
RNF216 is essential for spermatogenesis and male fertility†. Biology of Reproduction (May 2019) Rnf216tm1b(EUCOMM)Wtsi 30649198

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rnf216tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rnf216tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Rnf216tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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