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Gene: Rfk MGI:1914688

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Gene Summary

Name:
riboflavin kinase
Synonyms:
flavokinase,  ATP:riboflavin 5'-phosphotransferase,  0610038L10Rik

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
small spleen Rfkem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Rfkem1(IMPC)Mbp HOM   Early adult 0.00
abnormal kidney morphology Rfkem1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Rfkem1(IMPC)Mbp HET Early adult 0.00
small kidney Rfkem1(IMPC)Mbp HET Early adult 0.00
embryonic lethality prior to organogenesis Rfkem1(IMPC)Mbp HOM   E9.5 0.00
enlarged testis Rfkem1(IMPC)Mbp HET Early adult 0.00
single kidney Rfkem1(IMPC)Mbp HET Early adult 0.00
abnormal testis morphology Rfkem1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Rfkem1(IMPC)Mbp HET Early adult 1.60×10-09

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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 Whole Body Dorso Ventral

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Gross Morphology Embryo E9.5

Images

1 Images

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Human diseases caused by Rfk 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis, Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Oligozoospermia, Macroorchidism, Long penis ORPHA:3000
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Unilateral renal agenesis, Testicular seminoma, Hypogonadism, Cryptorchidism, Ren... ORPHA:281090
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia... OMIM:617805
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra... ORPHA:93101
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl... OMIM:601076
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Micropenis, Unilateral renal agenesis, Hypogonadotropic hypogonadism OMIM:244200
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Unilateral renal agenesis OMIM:618504
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... ORPHA:457083
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis, Aniridia OMIM:206750
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Intrahepatic bile duct dila... OMIM:216360
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis, Testicular ... OMIM:308750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Azoospermia, Testicular atrophy, Decreased testicular size, Small scro... OMIM:308700
Partington Syndrome
Macroorchidism ORPHA:94083
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal cyst, Renal agenesis, Hypogonadism, Renal dysplasia, Retinal d... OMIM:615993
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Renal Agenesis
Absent vas deferens, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral rena... ORPHA:411709
Bladder Exstrophy And Epispadias Complex
Epispadias, Bifid clitoris, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe ... OMIM:600057
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Precocious puberty, Hypogonadism, Cryptorchidism ORPHA:3306
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Abnormal renal morphology, Biliary tract abnormality, Decreased number... OMIM:137920
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ambiguous genitalia, Unilateral renal agenesis, Micropenis, Crossed fused renal ectopia OMIM:618142
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Hydronephrosis, Unilateral renal agenesis,... OMIM:609757
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Cirrhosis, Hepatomegaly, Unilateral renal agenesis, Pancytopenia, Proximal tubulop... OMIM:614576
47,Xyy Syndrome
Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating gonadotropin level, ... ORPHA:8
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... OMIM:158330
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ... OMIM:617641
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Unilateral renal agenesis, Cryptorchidism OMIM:618494
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Horseshoe kidney, Unilateral renal agenesis, Endometriosis OMIM:613680
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis, Coloboma OMIM:120400
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Fraser Syndrome 2
Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Hypoplasia of the th... OMIM:617666
Microphthalmia, Isolated 4
Coloboma, Absent testis OMIM:613094
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Renal phosphate wasting, Pancytopenia, Cholestasis, Abnorma... ORPHA:562
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Unilateral renal agenesis, Vesicoureteral reflux, Cryptorchidism, Micropeni... OMIM:619951
Ehlers-Danlos Syndrome, Classic-Like, 1
Vesicoureteral reflux, Unilateral renal agenesis, Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t... ORPHA:3109
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Unilateral renal agenesis, Neutropenia OMIM:614900
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal ... OMIM:613092
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Fragile X Syndrome
Macroorchidism ORPHA:908
Polyembryoma
Isosexual precocious puberty, Macroorchidism, Abnormal peritoneum morphology ORPHA:180229
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux... ORPHA:2237
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Emanuel Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal hypoplasia, Cryptorchidism, ... OMIM:609029
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Lymphopenia, Cryptorchidism,... OMIM:616541
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Hypospadias, Endometriosis, Recurrent urina... ORPHA:363444
Isolated Follicle Stimulating Hormone Deficiency
Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D... ORPHA:52901
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Iris coloboma OMIM:618874
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal... ORPHA:261318
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro... ORPHA:91349
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus, Renal agenesis,... ORPHA:2578
Branchiootorenal Syndrome 1
Euthyroid goiter, Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal ... OMIM:113650
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Takenouchi-Kosaki Syndrome
Optic atrophy, Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Hydronephr... OMIM:616737
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hydronephrosis, Nodular ... OMIM:620454
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Aniridia ORPHA:1064
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ... OMIM:614527
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Hypogonadism, Cryptorchidism, Micropenis ORPHA:96170
Houge-Janssens Syndrome 2
Unilateral renal agenesis OMIM:616362
Fanconi Anemia, Complementation Group N
Aplastic anemia, Ectopic kidney, Unilateral renal agenesis, Acute myeloid leukemia, Pelvic kidney... OMIM:610832
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism OMIM:618188
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Renal agenesis, Unilateral renal agenesis, Rectovaginal fistula OMIM:608980
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Fliedner-Zweier Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:620511
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral agenesis, Ureteral dysgenesis OMIM:274265
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Aniridia, Asplenia OMIM:602361
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Anemia, Unilateral renal agenesis, Pancytopenia, Vesicoureteral reflux, Retinal coloboma, Renal h... OMIM:620654
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
46,Xy Sex Reversal 10
Gonadal dysgenesis, Perineal hypospadias, Hypospadias, Ovotestis, Bifid scrotum, Decreased testic... OMIM:616425
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Megaloblastic anemia, Reduced number of intrahepatic bile ducts, Methy... ORPHA:79284
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Elevated ci... OMIM:618419
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Retinal detachment, Pelvic kidney, Renal cyst, Hydronephr... ORPHA:464311
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca OMIM:615709
Renal Coloboma Syndrome
Optic nerve dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Retinal coloboma, Ren... ORPHA:1475
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp... ORPHA:2470
Mirage Syndrome
Anemia, Hypospadias, Recurrent urinary tract infections, Microphallus, Hypergonadotropic hypogona... OMIM:617053
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Unilateral renal agenesis, Decreased growth hormone responses to growth hormone-re... OMIM:101800
Fanconi Anemia, Complementation Group L
Anemia, Unilateral renal agenesis, Aplasia of the uterus, Bone marrow hypocellularity, Renal hypo... OMIM:614083
Cockayne Syndrome Type 3
Hepatomegaly, Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Retinal atrophy, Retina... ORPHA:90324
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Anterior pituitary hypo... ORPHA:464306
Shashi-Pena Syndrome
Unilateral renal agenesis OMIM:617190
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Unilateral renal agenesis, Hypospadias, Abnormal o... ORPHA:95699
Microphthalmia, Syndromic 9
Renal malrotation, Multilobulated spleen, Pelvic kidney, Bicornuate uterus, Renal hypoplasia, Hyp... OMIM:601186
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Bifid scrotum, Splenomegaly, Small scrotum, Septate vagina, Hepatic st... OMIM:270400
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis OMIM:619227
Cockayne Syndrome
Optic atrophy, Hepatomegaly, Urinary incontinence, Unilateral renal agenesis, Neurogenic bladder,... ORPHA:191
Penoscrotal Transposition
Penoscrotal transposition, Hypospadias, Abnormal external genitalia, Abnormality of the ureter, R... ORPHA:2842
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal renal collecting system morphology, Hypospadias, Unilateral renal agenesis, Optic nerve ... ORPHA:468631
Aromatase Deficiency
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female... ORPHA:91
Neurofaciodigitorenal Syndrome
Cryptorchidism, Unilateral renal agenesis ORPHA:2673
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, B lymphocytopenia, Optic nerve hypoplasia, Recurrent urinary tract inf... ORPHA:221139
Neurooculorenal Syndrome
Unilateral renal agenesis, Bilateral renal agenesis, Stage 2 chronic kidney disease, Hyperechogen... OMIM:620305
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hypospadias, Enuresis, Abnormal optic disc morphology, Aplasia/hypopla... ORPHA:96121
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Thyroid hypoplasia, Prolonged neonatal jaundice, Goiter, Increased circ... ORPHA:90674
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Hypospadias, Unilateral renal agenesis, Abnormality of the lymphatic system, Incre... ORPHA:487796
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Cryptorchidism, Unilateral renal agenesis OMIM:620024
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Unilateral renal agenesis, Bilateral renal agenesis, Cryptorchidism, Supernumerary n... OMIM:619194
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Ambiguous... ORPHA:261534
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Hypospadias, Br... ORPHA:268261
Leopard Syndrome 1
Unilateral renal agenesis, Hypospadias, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Apla... OMIM:151100
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Splenic cyst, Abnormal peritoneum morphology, ... ORPHA:400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretina... OMIM:120200
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Proboscis Lateralis
Cyclopia, External genital hypoplasia, Unilateral renal agenesis, Optic nerve hypoplasia, Uretera... ORPHA:141099
Stormorken Syndrome
Anemia, Hematuria, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina ORPHA:457284
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Bifid uterus, Renal duplicatio... ORPHA:83628
Digeorge Syndrome
Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Renal dysplasia, Hypoplas... OMIM:188400
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Absent vas deferens, Jaundice, Abnormality of endocrine pancreas physiology,... ORPHA:93111
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Breast aplasia, Renal hypoplasia, Renal insufficiency, Pyelonephritis,... OMIM:181270
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Unilateral renal agenesis, Optic disc coloboma ORPHA:261337
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Shawl scrotum, Decreased response to growth hormone stimulation test, Supernumerary nipple, Unila... OMIM:213980
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Retinal nonattachment, Neopla... ORPHA:744
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Tubuloint... OMIM:174000
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism, Unilateral renal hypoplasia OMIM:619950
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, He... ORPHA:1359
Serkal Syndrome
Hypospadias, Renal agenesis, Hypoplasia of the bladder, Abnormal penis morphology, Sex reversal ORPHA:139466
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Thyroid hypoplasia, Unilateral renal agenesis OMIM:308050
Pallister-Hall Syndrome
Ectopic kidney, Thyroid hypoplasia, Small scrotum, Hydrometrocolpos, Hypospadias, Aplasia/Hypopla... ORPHA:672
Vacterl/Vater Association
Abnormality of the gallbladder, Ectopic kidney, Hypospadias, Hypoplasia of penis, Bifid scrotum, ... ORPHA:887
Caudal Regression Syndrome
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Abnormality of the ureter, Renal age... ORPHA:3027
Zttk Syndrome
Optic atrophy, Polyuria, Unilateral renal agenesis, Absent gallbladder, Horseshoe kidney OMIM:617140
Fanconi Anemia, Complementation Group A
Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Abnormal renal morphology, Re... OMIM:227650
Fanconi Anemia, Complementation Group E
Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytopenia, Hypergonad... OMIM:600901
8Q24.3 Microdeletion Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Optic nerve hypoplasia, Pelvic kidney, Vesi... ORPHA:508488
Aspartylglucosaminuria
Hepatomegaly, Splenomegaly, Aspartylglucosaminuria, Macroorchidism ORPHA:93
Pearson Syndrome
Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Pancreatic fibrosis, Hepatic steatosi... ORPHA:699
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus, Unilateral renal agenesis OMIM:154400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Small pituitary... OMIM:619503
Fanconi Anemia, Complementation Group C
Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytopenia, Hypergonad... OMIM:227645
Aspartylglucosaminuria
Hepatomegaly, Vacuolated lymphocytes, Aspartylglucosaminuria, Macroorchidism, Neutropenia OMIM:208400
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Ciliary Dyskinesia, Primary, 53
Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Unilateral renal agenesis, Optic nerve hypoplasia, Absent gallbladder, Horseshoe k... ORPHA:500150
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... OMIM:258040
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Hypospadias, Renal agenesis, Renal dysplasia, Cryptorchidism, Multicys... OMIM:308205
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Pyelonephritis, Unilateral renal agenesis ORPHA:90348
Pierson Syndrome
Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorr... OMIM:609049
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Lymphangioma, D-2-hydroxyglutaric aciduria, Unilateral renal agenesis, Acute myelomonocytic leukemia ORPHA:99646
Tetraamelia Syndrome 1
Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Renal agenesis, Vaginal at... OMIM:273395
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... ORPHA:91495
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Atelis Syndrome 2
Thrombocytopenia, Anemia, Remnants of the hyaloid vascular system OMIM:620185
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Microphthalmia, Syndromic 2
Hypospadias, Retinal detachment, Remnants of the hyaloid vascular system, Septate vagina, Cryptor... OMIM:300166
Acromelic Frontonasal Dysostosis
Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system OMIM:603671
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Norrie Disease
Optic atrophy, Retinal detachment, Remnants of the hyaloid vascular system, Cryptorchidism, Uteri... ORPHA:649
Holoprosencephaly 2
Cyclopia, Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Chorioretinal col... OMIM:157170
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Neuroocular Syndrome
Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma OMIM:619539

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.

There is no histopathology data for Rfk

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 Rfk.

No publications found that use IMPC mice or data for Rfk.

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
Rfktm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rfktm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Rfktm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rfkem1(IMPC)Mbp Exon Deletion Mice, Tissue
Rfktm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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