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Gene: Rnf135 MGI:1919206

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Gene Summary

Name:
ring finger protein 135
Synonyms:
2410006N06Rik,  U 2-3-0,  MGC13061,  0610037N03Rik

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 ovary Rnf135em1(IMPC)Tcp HOM Late adult 0.00
abnormal stomach morphology Rnf135em1(IMPC)Tcp HOM Late adult 0.00
decreased exploration in new environment Rnf135em1(IMPC)Tcp HOM Late adult 1.97×10-07
abnormal stomach morphology Rnf135em1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Rnf135em1(IMPC)Tcp HOM Late adult 0.00
small uterus Rnf135em1(IMPC)Tcp HOM Late adult 0.00
abnormal skin morphology Rnf135em1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Rnf135em1(IMPC)Tcp HOM Late adult 0.00
decreased grip strength Rnf135em1(IMPC)Tcp HOM Late adult 1.22×10-06
abnormal skin morphology Rnf135em1(IMPC)Tcp HOM Late adult 0.00

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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.

Eye Morphology

Images Ophthalmoscopy

187 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

5 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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Histopathology

Images

10 Images

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Gross Pathology and Tissue Collection

Images

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Electrocardiogram (ECG)

Waveform Image

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Rnf135 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 Rnf135 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism ORPHA:137634

The table below shows human diseases predicted to be associated to Rnf135 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Gastric Cancer
Stomach cancer OMIM:613659
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Satoyoshi Syndrome
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas... ORPHA:3130
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... OMIM:612964
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Serrated Polyposis Syndrome
Ovarian neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis, Pros... ORPHA:157798
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Abnormal rib morphology, Cleft palate, Hypoplasia of the uterus OMIM:601076
Amed Syndrome, Digenic
Adrenal hypoplasia, Bone marrow hypocellularity, Attention deficit hyperactivity disorder, Hypopl... OMIM:619151
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge... OMIM:614851
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... OMIM:600705
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Testicular seminoma, Hypogonadism, Attention deficit hyperactivity d... ORPHA:281090
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Emotional la... ORPHA:179494
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Cleft p... ORPHA:247768
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, High palate, Anal atresia, Hypergonadotropic hypogo... OMIM:154230
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Frasier Syndrome
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... ORPHA:347
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Burkitt Lymphoma
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality ... ORPHA:543
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Popliteal Pterygium Syndrome
Bifid scrotum, Cutaneous finger syndactyly, Bifid uvula, Cleft palate, Hypoplasia of the vagina, ... OMIM:119500
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Accessory spleen, Bifid distal phalanx of toe, Anal atresia, Clitoral hypopla... OMIM:618419
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, Intestinal malrotation, Apla... ORPHA:2538
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... ORPHA:2235
Meckel Syndrome 12
Rocker bottom foot, Bifid uvula, Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... ORPHA:99429
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Short 4th metacarpal, H... ORPHA:1772
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,... ORPHA:3464
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... ORPHA:2494
Microcephaly 20, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Tibial torsion, Finger syndactyly, Aplasia/Hypop... ORPHA:3320
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Decreased response to growth hormone stimulation test, High palate, Short distal... OMIM:615866
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Ulnar-Mammary Syndrome
Delayed puberty, Abnormal metacarpal morphology, Hypoplasia of penis, Abnormal morphology of the ... ORPHA:3138
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Gener... OMIM:602450
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Hepatocellular carcinoma, Esophageal varix, Cognitive... ORPHA:64743
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Anal atresia, Chordee, Cleft palate, Colonic atresi... OMIM:309801
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, High palate, Female infertility, Amenorrhea, Increased circulati... OMIM:110100
Fg Syndrome 3
Broad thumb, Pyloric stenosis, Cryptorchidism, Broad hallux OMIM:300406
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, High palate, Precocious puberty, Pyloric stenosis, Clinodac... ORPHA:96184
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Rocker bottom foot, Decreased circulating androstenedione concentration, Clitoral hypertrophy, De... OMIM:201750
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Rocker bottom foot, Short 5th finger, Pyloric stenosis, Congenital hip dislocation OMIM:133705
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Radial deviation of finger, Clinodactyly OMIM:188025
Bardet-Biedl Syndrome
Hypoplasia of penis, Hypoplasia of the ovary, Abnormality of the endocrine system, Cognitive impa... ORPHA:110
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Camptodac... OMIM:614262
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Genitourinary And/Or Brain Malformation Syndrome
Ileal atresia, Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, C... OMIM:618820
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Trisomy 18P
High, narrow palate, Abnormal finger morphology, Bilateral cryptorchidism, Pyloric stenosis, Atte... ORPHA:1715
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix, Clubbing, Splenomegaly OMIM:620367
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Ulnar-Mammary Syndrome
Delayed puberty, Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd ... OMIM:181450
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... ORPHA:572333
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen... OMIM:158330
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Clinodactyly of the 5th finger, Tapered finger, Hip dysplasia OMIM:617219
Microphthalmia, Syndromic 9
Multilobulated spleen, Bicornuate uterus, Hypoplastic spleen, Cryptorchidism, Hypoplasia of the u... OMIM:601186
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, High, ... ORPHA:2879
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Bilateral cryptorchidism ORPHA:314575
Alg9-Cdg
Narrow greater sciatic notch, Irritability, Gastroesophageal reflux, Hitchhiker thumb, Hypoplasia... ORPHA:79328
Systemic Sclerosis
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Osteolytic defects of the... ORPHA:90291
Leopard Syndrome 1
Delayed puberty, Hypospadias, Hypoplasia of the ovary, Delayed menarche, Missing ribs, Cleft pala... OMIM:151100
Metachromatic Leukodystrophy
Abnormal stomach morphology, Emotional lability, Abnormal duodenum morphology, Dementia, Neoplasm... ORPHA:512
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Thin ribs, Short ribs, Aplasia of the uterus, Missing ribs, Anal atresia, ... OMIM:271520
Oeis Complex
Epispadias, Ambiguous genitalia, male, 11 pairs of ribs, Rectovaginal fistula, Vesicovaginal fist... OMIM:258040
Lumbar Syndrome
Hypospadias, Ectopic anus, Bifid scrotum, Anal atresia, Bifid uterus, Ambiguous genitalia, Crypto... ORPHA:83628
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Supernumerary nipple, Midgut malrotation, Conge... OMIM:263750
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... OMIM:137920
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Femoral bowing, Aplasia of the uterus, Broad thumb, Bilateral radial aplasia... OMIM:274000
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang... OMIM:161700
Opitz-Kaveggia Syndrome
Narrow palate, Radial deviation of finger, Anal stenosis, Hypospadias, Prominent fingertip pads, ... OMIM:305450
Schinzel-Giedion Syndrome
Annular pancreas, Aganglionic megacolon, Hypospadias, Hypoplastic pubic bone, Tibial bowing, Macr... ORPHA:798
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Fanconi Anemia, Complementation Group L
Esophageal atresia, Aplasia of the uterus, Tracheoesophageal fistula, Anal atresia, Attention def... OMIM:614083
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Genu valgum, Cleft soft palate, Hypoplasia of the ovary, Intestinal malrotation, Decreased testic... OMIM:619321
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... ORPHA:141127
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Peters-Plus Syndrome
Bilobate gallbladder, Square pelvis bone, Clinodactyly of the 5th finger, Hypospadias, Proximal p... OMIM:261540
Apert Syndrome
Narrow palate, Esophageal atresia, Delayed epiphyseal ossification, Finger syndactyly, Ectopic an... OMIM:101200
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Dislocated radial head, Malrotation of colon, Hypoplasia of the radi... OMIM:122470
Peters Plus Syndrome
Clinodactyly of the 5th finger, Hypospadias, Anterior hypopituitarism, Anal atresia, Clitoral hyp... ORPHA:709
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Hypoplasia of the vagina, Prima... ORPHA:3109
Limb-Mammary Syndrome
Cleft hard palate, Clinodactyly of the 5th finger, Breast aplasia, Aplasia of the uterus, Oligoda... ORPHA:69085
Reynolds Syndrome
Abnormal gastric mucosa morphology, Dysphagia, Xerostomia, Gastroesophageal reflux ORPHA:779
Esophageal Atresia
Gastrointestinal carcinoma, Maternal diabetes, Anorectal anomaly, Gastroesophageal reflux, Abnorm... ORPHA:1199
Townes-Brocks Syndrome 2
Anal atresia, Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Craniorachischisis
Anal atresia, Bifid sternum ORPHA:63260
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Bifid uterus, Cleft palate, Cleft soft palate ORPHA:2736
Jacobsen Syndrome
Pyloric stenosis, Annular pancreas, Duodenal atresia, Finger syndactyly, Ectopic anus, Missing ri... ORPHA:2308
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Prostatitis, Lymph node hypoplasia, Epididymitis OMIM:300755
Townes-Brocks Syndrome 1
Clinodactyly of the 5th toe, Bifid scrotum, Tracheoesophageal fistula, Broad thumb, Aplasia/Hypop... OMIM:107480
Hardikar Syndrome
Hematemesis, Irritability, Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal v... OMIM:301068
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Chronic Granulomatous Disease
Pyloric stenosis, Mediastinal lymphadenopathy, Splenomegaly, Tracheoesophageal fistula ORPHA:379
Coffin-Lowry Syndrome
Narrow palate, Rectal prolapse, Bifid sternum, Hyperextensibility of the finger joints, Narrow il... OMIM:303600
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno... OMIM:146255
Meckel Syndrome 14
Aplasia of the uterus, Postaxial hand polydactyly, Bowing of the long bones, Postaxial polydactyl... OMIM:619879
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Cleft palate... ORPHA:2237
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Hypoplasia of penis, Abnormal intestine morphology... ORPHA:1606
Yunis-Varon Syndrome
Rocker bottom foot, Clitoral hypertrophy, Abnormal finger morphology, Short ribs, Glossoptosis, A... ORPHA:3472
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the panc... ORPHA:93111
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Clitoral hypertrophy, Enlarged labia minora, Fibular aplasia, Maternal ... ORPHA:3404
Cornelia De Lange Syndrome
Delayed puberty, Proximal placement of thumb, Hypoplasia of penis, Oligodactyly, Intestinal malro... ORPHA:199
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Upper limb undergrowth, Aplasia of the uterus, High palate, Unicornuate ut... OMIM:614527
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, High palate, Bifid uterus, Syndactyly, Unilateral brachydactyly, Abnormal r... ORPHA:1521
Wolf-Hirschhorn Syndrome
Hypospadias, Gastroesophageal reflux, Short hallux, Accessory spleen, Aplasia of the uterus, Spli... OMIM:194190
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Accessory spleen, 2-3 toe syndactyly, Aplasia of the uterus, Bifid scrot... OMIM:618280
Coffin-Siris Syndrome 1
Duodenal ulcer, Clitoral hypertrophy, Sandal gap, Dislocated radial head, Aplasia of the uterus, ... OMIM:135900
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Aplasia of the vagina, Aplasia of the uterus, Postaxial polydacty... ORPHA:457284
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Anal stenosis, Bifid penis, Abnormality of the gastrointes... ORPHA:322
Viss Syndrome
Rocker bottom foot, Intestinal malrotation, Arachnodactyly, Malposition of the stomach, Bifid uvu... OMIM:619472
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia ORPHA:79403
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Upper limb undergrowth, Access... OMIM:236680
Yunis-Varon Syndrome
Flat acetabular roof, Absent thumb, Short distal phalanx of finger, Clinodactyly, Aplastic clavic... OMIM:216340
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, High ... ORPHA:284339
Williams Syndrome
Hypoplasia of penis, Tracheoesophageal fistula, Adducted thumb, Depression, Colonic diverticula, ... ORPHA:904
Okamoto Syndrome
Polydactyly, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, Intestinal... ORPHA:2729
Neu-Laxova Syndrome 1
Rocker bottom foot, Radial deviation of finger, Finger syndactyly, Calcaneovalgus deformity, Camp... OMIM:256520
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Pallister-Killian Syndrome
Aplasia of the uterus, Intestinal malrotation, Bifid uvula, Small scrotum, Hip dislocation, Aplas... OMIM:601803
Loeys-Dietz Syndrome
High palate, Camptodactyly of finger, Arachnodactyly, Bifid uvula, Uterine rupture ORPHA:60030
Ehlers-Danlos Syndrome, Vascular Type
Osteolytic defects of the phalanges of the hand, Cervical insufficiency, Metacarpophalangeal join... OMIM:130050
Microphthalmia, Syndromic 1
Rectal prolapse, Radial deviation of finger, Aganglionic megacolon, Hypospadias, High, narrow pal... OMIM:309800
Norrie Disease
Delayed puberty, Irritability, Erectile dysfunction, Uterine rupture, Cryptorchidism, Attention d... ORPHA:649
Vascular Ehlers-Danlos Syndrome
Gastrointestinal infarctions, High, narrow palate, Hypospadias, Uterine rupture, Abnormal intesti... ORPHA:286
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism ORPHA:137634

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 Rnf135

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 Rnf135.

No publications found that use IMPC mice or data for Rnf135.

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
Rnf135em1(IMPC)Tcp Exon Deletion Mice, Tissue
Rnf135tm17(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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