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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
abnormal skin morphology Rnf135em1(IMPC)Tcp HOM Late adult 0.00
abnormal sternum morphology Rnf135em1(IMPC)Tcp HOM Late adult 0.00
abnormal stomach morphology Rnf135em1(IMPC)Tcp HOM Early adult 0.00
cataract Rnf135em1(IMPC)Tcp HOM Late adult 7.30×10-05
decreased grip strength Rnf135em1(IMPC)Tcp HOM Late adult 1.22×10-06
abnormal stomach morphology Rnf135em1(IMPC)Tcp HOM Late adult 0.00
small ovary Rnf135em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes 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
decreased exploration in new environment Rnf135em1(IMPC)Tcp HOM Late adult 1.97×10-07

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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 Whole Body Dorso Ventral

10 Images

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Histopathology

Images

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

13 Images

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X-ray

XRay Images Skull Lateral Orientation

10 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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Histopathology

Images

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

5 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
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
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
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cataract, Cryptorchidism OMIM:274205
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Pyloric stenosis, Abnormal intestine morphology ORPHA:2978
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Satoyoshi Syndrome
Genu varum, Tapered finger, Abnormality of the humerus, Abnormality of the ovary, Abnormality of ... ORPHA:3130
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... ORPHA:168563
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Absence of pubertal development, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... OMIM:614841
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Perrault Syndrome 4
Cognitive impairment, Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficien... OMIM:615300
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Gastric adenocarcinoma, Fundic gland polyposis, Melena OMIM:619182
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... OMIM:612310
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... OMIM:612964
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Camptodactyly, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Delayed pub... ORPHA:432
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Satoyoshi Syndrome
Osteolytic defects of the phalanges of the hand, Genu valgum, Short metacarpal, Malabsorption, Br... OMIM:600705
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Absence Deformity Of Leg-Cataract Syndrome
Anal atresia, Lower limb undergrowth, Cataract, Abnormality of femur morphology, Abnormal epiphys... ORPHA:2310
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619834
Serrated Polyposis Syndrome
Gastric diverticulum, Pancreatic adenocarcinoma, Colorectal polyposis, Prostate cancer, Neoplasm ... ORPHA:157798
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Genu valgum, Hypoplasia of penis, Anal atresia, Cataract, Hypospadias, Cryptorchidism, Aplasia/Hy... ORPHA:1381
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Aniridia, A... OMIM:194072
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Azoospermia, Abnormal rib morphology, Cleft palate, Hypoplasia of the uterus OMIM:601076
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Colorectal Cancer
Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma OMIM:114500
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Cataract, Abnormality of the ovary, Hypogonadism ORPHA:1875
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Primary am... OMIM:609441
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... OMIM:617690
Seckel Syndrome 7
Central hypothyroidism, Abnormal carpal morphology, Short middle phalanx of the 5th finger, Hip d... OMIM:614851
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Abnormal stomach morphology, Testicular seminoma, Corneal opacity, Cryptorchidism ORPHA:281090
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Cataract, Elevated circulating follicle stimulating... OMIM:240950
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Esophageal neoplasm, Vaginal neoplasm, Cataract, Uterine leiomyoma, Barre... ORPHA:523
Premature Ovarian Failure 10
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... OMIM:612885
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Arachnodactyly, Decreased serum estradiol, Secondary am... ORPHA:243
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormality of the ovary, Brachydactyly, Hypoplasia of the ut... ORPHA:247768
Hypogonadotropic Hypogonadism 25 With Anosmia
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... OMIM:618841
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Amed Syndrome, Digenic
Adrenal hypoplasia, Bone marrow hypocellularity, Long thumb, Hypoplasia of the uterus OMIM:619151
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... ORPHA:90796
Martsolf Syndrome 2
Camptodactyly of finger, Camptodactyly, Developmental cataract, Overlapping toe, Cataract, Hypogo... OMIM:619420
Popliteal Pterygium Syndrome
Cutaneous finger syndactyly, Bifid scrotum, Hypoplasia of the vagina, Bifid uvula, Hypoplastic la... OMIM:119500
Esophageal Ring, Lower
Hiatus hernia, Dysphagia OMIM:133240
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Hypergonadotropic Hypogonadism-Cataract Syndrome
Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin... ORPHA:2410
Estrogen Resistance Syndrome
Hyperinsulinemia, Delayed epiphyseal ossification, Enlarged polycystic ovaries, Absence of second... ORPHA:785
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
46,Xy Sex Reversal 4
High palate, Sex reversal, Hypoplastic labia majora, Anal atresia, Agonadism, Hypergonadotropic h... OMIM:154230
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl... ORPHA:1856
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:66628
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Anal atresia, Anteriorly placed anus, Iris coloboma, Peters anomaly, Catara... OMIM:309801
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Delayed puberty, Polycystic ovaries,... OMIM:615363
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Frasier Syndrome
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... ORPHA:347
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... ORPHA:263665
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Primary amenorrhea, Abnormal internal genitalia, Aplasia of the uterus,... OMIM:273250
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, Perineal hypospadias, True hermaphroditism... OMIM:278850
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes me... ORPHA:3085
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Ab... ORPHA:2725
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Intestinal obstruction, Gastrointestina... ORPHA:543
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of the thumb, Cutaneous finger syndactyly, Hip dysplasia, Pyloric stenosis, ... OMIM:618419
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Splenomegaly, Gastric varix OMIM:613490
Meckel Syndrome 12
Bifid uvula, Antecubital pterygium, Vaginal atresia, Rocker bottom foot, Hypoplasia of the uterus OMIM:616258
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Spo... ORPHA:1876
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus OMIM:277000
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Short 4th metacarpal, Hallux valgus, Ambiguo... ORPHA:1772
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... ORPHA:2235
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Microgastria-Limb Reduction Defect Syndrome
Phocomelia, Ectrodactyly, Absent hand, Esophageal atresia, Abnormality of the humerus, Abnormal m... ORPHA:2538
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Tracheoesophageal fistula, Cataract, Furrowed tongue, Corneal dystrophy, Abnor... ORPHA:1839
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, High palate, Premature ovarian insufficiency, Microcornea, Increased circ... OMIM:110100
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Triphalangeal thumb, Primary gonadal insufficiency, Impotence, Decreased serum estradiol, Aplasia... ORPHA:2232
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Bardet-Biedl Syndrome
Finger syndactyly, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Cryptorchidism, Po... ORPHA:110
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Multiple gastric pol... ORPHA:2494
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... ORPHA:99429
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Developmental Malformations-Deafness-Dystonia Syndrome
Achalasia, Femoral retroversion, Macroglossia, Cataract, Dysphagia, Mental deterioration, Hypopla... ORPHA:79107
Galactokinase Deficiency
Hyperinsulinemia, Premature ovarian insufficiency, Psychomotor deterioration, Hepatosplenomegaly,... ORPHA:79237
Congenital Tufting Enteropathy
Elevated fecal osmolality, Corneal erosion, Abnormal large intestinal mucosa morphology, Villous ... ORPHA:92050
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Finger syndactyly, Tibial torsion, Hip dislocation, Clinodactyly of the 5... ORPHA:3320
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
High palate, Decreased response to growth hormone stimulation test, Clinodactyly, Delayed puberty... OMIM:615866
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Cataract, Hypogonadism, Cryptorchidism ORPHA:363741
Scleroderma
Osteolytic defects of the phalanges of the hand, Finger swelling, Gastroesophageal reflux, Abnorm... ORPHA:801
Microphthalmia With Brain And Digit Anomalies
High palate, Finger syndactyly, Microcornea, Postaxial foot polydactyly, Iris coloboma, Cataract,... ORPHA:139471
Zellweger Syndrome
Brushfield spots, High palate, Posterior embryotoxon, Cognitive impairment, Malabsorption, Pylori... ORPHA:912
Mietens Syndrome
Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Hypoplasia of the rad... ORPHA:2557
Dystonia, Juvenile-Onset
Achalasia, Femoral retroversion, Pseudobulbar paralysis, Cataract, Dysphagia, Cleft palate, Hypop... OMIM:607371
Ulnar-Mammary Syndrome
Camptodactyly of finger, Decreased fertility, Abnormal finger morphology, Ectopic anus, Abnormali... ORPHA:3138
Hepatoportal Sclerosis
Cognitive impairment, Hypersplenism, Hepatocellular carcinoma, Gastrointestinal hemorrhage, Gastr... ORPHA:64743
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Anal atresia, Microcornea, Aplasia/Hypoplasia involving the pelvis, Iris coloboma, ... ORPHA:3301
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Aplasia of th... OMIM:602450
Aniridia-Absent Patella Syndrome
Cataract, Aplasia/Hypoplasia of the patella, Aniridia, Cryptorchidism ORPHA:1069
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Female hypogonadism, Hypothyroidism, Asplenia, Atrophic gastritis, Decreased circulating aldoster... OMIM:240300
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Humeroradial synostosis, Vesicovaginal fistula, Adrenal insufficiency, Decre... OMIM:201750
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Esophageal neoplasm, Neoplasm of... ORPHA:44890
Congenital Bile Acid Synthesis Defect Type 4
Memory impairment, Hypogonadism, Type II diabetes mellitus, Cataract, Mental deterioration, Hemat... ORPHA:79095
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, High palate, Small hand, Pyloric stenosis, Bifid uvula, Clinodactyly, Maturit... ORPHA:96184
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Jejunal atresia, Syndactyly, Astigmatism, Hypospadias, Ileal atresia, G... OMIM:618820
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Clinodactyly, Radial deviation of finger OMIM:188025
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Congenital hip dislocation, Pyloric stenosis, Short 5th finger, Rocker bottom foot OMIM:133705
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Cryptorchidism ORPHA:2617
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Achalasia, Hypo... ORPHA:1018
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Colon... OMIM:174900
Ulnar-Mammary Syndrome
Short 5th finger, Postaxial hand polydactyly, Imperforate hymen, Shawl scrotum, Short 4th toe, Bi... OMIM:181450
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Pyloric stenosis, Camptodactyly, Avascular necrosis of the capital femoral epiph... OMIM:614262
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Microphthalmia, Syndromic 9
Bicornuate uterus, Multilobulated spleen, Cryptorchidism, Hypoplastic spleen, Hypoplasia of the u... OMIM:601186
Wagro Syndrome
Aggressive behavior, Decreased testicular size, Emotional lability, Hypoplastic female external g... OMIM:612469
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Streak ovary,... ORPHA:572333
Phocomelia, Schinzel Type
Foot oligodactyly, Humeroradial synostosis, High, narrow palate, Hypoplasia of the radius, Radial... ORPHA:2879
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Alg9-Cdg
Gastroesophageal reflux, Villous atrophy, Short long bone, Bicornuate uterus, Bifid uvula, Irrita... ORPHA:79328
Isolated Ectopia Lentis
Cognitive impairment, Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L... ORPHA:220460
Systemic Sclerosis
Osteolytic defects of the phalanges of the hand, Finger swelling, Gastroesophageal reflux, Gastro... ORPHA:90291
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Bilateral cryptorchidism ORPHA:314575
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hip dysplasia, Pyloric stenosis, Tapered finger, Clinodactyly of the 5th finger OMIM:617219
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Cervical ribs, Phocomelia, He... OMIM:274000
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenor... OMIM:158330
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Short ribs, Missing ribs, Absent external genitalia, Anal atresia, Aplasia of t... OMIM:271520
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Bilateral cryptorchidism, Developmental cataract, Cataract, Meckel diverticulum OMIM:616395
Peters Plus Syndrome
Intestinal fistula, Short toe, Toe syndactyly, Anterior hypopituitarism, Anterior chamber synechi... ORPHA:709
Norrie Disease
Aggressive behavior, Leukocoria, Hypoplasia of the iris, Dementia, Buphthalmos, Shallow anterior ... OMIM:310600
Myhre Syndrome
Precocious puberty, Hypogonadism, Large iliac wing, External genital hypoplasia, Bifid uvula, Sub... ORPHA:2588
Aniridia And Absent Patella
Cataract, Aplasia/Hypoplasia of the patella, Aniridia OMIM:106220
Leopard Syndrome 1
Aplasia of the ovary, Missing ribs, Hypoplasia of the ovary, Delayed puberty, Hypospadias, Crypto... OMIM:151100
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Cornelia De Lange Syndrome 1
2-3 toe syndactyly, Hypoplastic labia majora, Dislocated radial head, Phocomelia, Cleft palate, S... OMIM:122470
Lumbar Syndrome
Ambiguous genitalia, Ectopic anus, Bifid scrotum, Hypoplastic labia majora, Anal atresia, Hypospa... ORPHA:83628
Metachromatic Leukodystrophy
Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology, Dementia, Emotional l... ORPHA:512
Stromme Syndrome
Jejunal atresia, Microcornea, Intestinal malrotation, Iris coloboma, Peters anomaly, Cataract, Pr... OMIM:243605
Oeis Complex
11 pairs of ribs, Duplicated colon, Absent scrotum, Ambiguous genitalia, female, Vesicovaginal fi... OMIM:258040
Peters-Plus Syndrome
Hypoplastic labia majora, Iris coloboma, Peters anomaly, Square pelvis bone, Cleft palate, Short ... OMIM:261540
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Congenital pyloric atresia, Axillary pterygium, Esophageal atresia OMIM:226730
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:168558
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Postaxial Acrofacial Dysostosis
Midgut malrotation, Hypoplasia of the radius, Pyloric stenosis, Radioulnar synostosis, Supernumer... OMIM:263750
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Maturity-... OMIM:137920
Tetraamelia Syndrome 1
Urethral atresia, Asplenia, Adrenal gland agenesis, Absent external genitalia, Anal atresia, Vagi... OMIM:273395
Schinzel-Giedion Syndrome
Central hypothyroidism, Hypoplastic pubic bone, High palate, Short 1st metacarpal, Aganglionic me... ORPHA:798
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Gastric hypertrophy, Metaca... OMIM:161700
Jacobsen Syndrome
Short toe, Finger syndactyly, Abnormality of the anus, Ectopic anus, Toe syndactyly, Annular panc... ORPHA:2308
Congenital Tracheal Stenosis
Morphological abnormality of the gastrointestinal tract, Abnormal stomach morphology, Anal atresi... ORPHA:141127
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... ORPHA:90794
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hypothyroidism, Asplenia, Hyperthyroidism, Keratoconjunctivitis, Type II diabetes mellit... OMIM:269200
Meckel Syndrome
Pancreatic cysts, Urethral atresia, Ambiguous genitalia, Preaxial hand polydactyly, Aplasia/Hypop... ORPHA:564
Microphthalmia, Syndromic 3
Anterior pituitary hypoplasia, Esophageal atresia, Supernumerary ribs, Missing ribs, Cataract, Hy... OMIM:206900
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... OMIM:276820
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Phakodonesis, High palate, Anterior synechiae of the anterior chamber, Short finger, Bifid uvula,... OMIM:601552
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Genu valgum, Cleft soft palate, Decreased testicular size, Intestinal malrotation, Hypoplasia of ... OMIM:619321
Cutis Laxa, Autosomal Recessive, Type Iiib
Developmental glaucoma, Pyloric stenosis, Hip dislocation, Cataract, Cryptorchidism OMIM:614438
Limb-Mammary Syndrome
Aplasia of the ovary, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th fi... ORPHA:69085
Smith-Lemli-Opitz Syndrome
Hip subluxation, 2-3 toe syndactyly, Ambiguous genitalia, Precocious puberty, Epiphyseal stipplin... OMIM:270400
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Apert Syndrome
Broad distal phalanx of the thumb, Broad distal hallux, Preaxial hand polydactyly, Narrow palate,... OMIM:101200
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Hydrocele testis, Anteriorly displaced urethral meatus OMIM:266810
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
1P36 Deletion Syndrome
Camptodactyly of finger, Hypothyroidism, Abnormality of the anus, Ocular albinism, Abnormal intes... ORPHA:1606
Chronic Granulomatous Disease
Malabsorption, Pyloric stenosis, Tracheoesophageal fistula, Mediastinal lymphadenopathy, Splenome... ORPHA:379
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Smith-Lemli-Opitz Syndrome
2-3 toe syndactyly, Ambiguous genitalia, Bifid tongue, Hip dislocation, Iris coloboma, Postaxial ... ORPHA:818
Craniorachischisis
Bifid sternum, Anal atresia ORPHA:63260
Agammaglobulinemia, X-Linked
Conjunctivitis, Prostatitis, Hepatocellular carcinoma, Epididymitis, Lymph node hypoplasia OMIM:300755
Townes-Brocks Syndrome
Hypothyroidism, Toe syndactyly, Iris coloboma, Absent toe, Abnormal rib morphology, Abnormal vagi... ORPHA:857
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Bifid uterus, Anal atresia OMIM:617466
Jacobsen Syndrome
Annular pancreas, Pyloric stenosis, Missing ribs, Clinodactyly of the 5th finger, Labial hypoplas... OMIM:147791
Esophageal Atresia
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... ORPHA:1199
Townes-Brocks Syndrome 1
2-3 toe syndactyly, Hypothyroidism, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsa... OMIM:107480
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Polydactyly, Hypothyroidism, Premature thelarche, Tapered finger, Hallux valgus, Cleft soft palat... ORPHA:268261
Fanconi Anemia, Complementation Group L
Absent thumb, Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Aplasia of the uterus,... OMIM:614083
Yunis-Varon Syndrome
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... ORPHA:3472
Hardikar Syndrome
Cleft soft palate, Hypersplenism, Esophageal varix, Hepatosplenomegaly, Intestinal malrotation, C... OMIM:301068
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Lethal Omphalocele-Cleft Palate Syndrome
Cleft palate, Bifid uterus, Bifid uvula, Cleft soft palate ORPHA:2736
Wolf-Hirschhorn Syndrome
Precocious puberty, Hip dislocation, Metatarsus adductus, Iris coloboma, Short hallux, Cleft pala... OMIM:194190
Coffin-Lowry Syndrome
Coxa valga, Tapered finger, Short metacarpal, Hyperextensibility of the finger joints, Narrow pal... OMIM:303600
Cornelia De Lange Syndrome
Toe syndactyly, Hip dislocation, Hypoplastic labia majora, Primary amenorrhea, Cleft palate, Shor... ORPHA:199
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... OMIM:221900
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Hypoparathyroidism, Primary amenorrhea, Septate vagina, Aplasia of the vag... OMIM:146255
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ambiguous genitalia, Preaxial hand polydactyly, Bifid tongue, Short foot, Ectopic anus, Short rib... ORPHA:93271
Meckel Syndrome 14
Ambiguous genitalia, Postaxial foot polydactyly, Syndactyly, Aplasia of the uterus, Postaxial han... OMIM:619879
Norrie Disease
Abnormal pupil morphology, Self-injurious behavior, Anxiety, Hypoplasia of the iris, Anterior cha... ORPHA:649
Coffin-Siris Syndrome 1
Coxa valga, Dislocated radial head, Cleft palate, Aplasia/Hypoplasia of the patella, Gastric ulce... OMIM:135900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Septate vagina, Vaginal atresia, Parathyroid hypoplasia, Aplasia of the uterus, Diabetes mellitus... ORPHA:2237
Chromosome 17Q12 Deletion Syndrome
Unicornuate uterus, Aplasia of the vagina, Upper limb undergrowth, High palate, Short foot, Aplas... OMIM:614527
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Intestinal atresia, Congenital pyloric atresia, Pterygium ORPHA:79403
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology,... ORPHA:93111
Knobloch Syndrome
Pyloric stenosis, Cataract, Lymphangioma, Ectopia lentis ORPHA:1571
Ulbright-Hodes Syndrome
Short sternum, Abnormal external genitalia, High palate, Humeroradial synostosis, Short ribs, Sho... ORPHA:3404
Williams Syndrome
Peptic ulcer, Hypothyroidism, Precocious puberty, Colonic diverticula, Hallux valgus, Functional ... ORPHA:904
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
High palate, Unilateral brachydactyly, Supernumerary nipple, Syndactyly, Bifid uterus, Abnormal r... ORPHA:1521
Yunis-Varon Syndrome
Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe syndactyly, Irritability, Hip di... OMIM:216340
Microphthalmia, Syndromic 1
Aggressive behavior, High palate, High, narrow palate, Aganglionic megacolon, Pyloric stenosis, C... OMIM:309800
Exstrophy-Epispadias Complex
Female sexual dysfunction, Absent penis, Abnormality of the gastrointestinal tract, Bifid scrotum... ORPHA:322
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Broad hallux, Aplasia of the uterus, Aplasia of th... ORPHA:457284
Okamoto Syndrome
Polydactyly, Gastroesophageal reflux, Exaggerated median tongue furrow, Hip dysplasia, Intestinal... ORPHA:2729
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Viss Syndrome
Hypothyroidism, Bifid tongue, Cleft soft palate, Bifid uvula, Hip dislocation, Submucous cleft so... OMIM:619472
Cardiac-Urogenital Syndrome
2-3 toe syndactyly, Ambiguous genitalia, Bifid scrotum, Intestinal malrotation, Unilateral crypto... OMIM:618280
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Clinodactyly, Camptodactyly, Pterygium, Calcaneovalgus deformi... OMIM:256520
Hydrolethalus Syndrome 1
Upper limb undergrowth, Preaxial hand polydactyly, Proximal tibial hypoplasia, Duplication of pha... OMIM:236680
Pontocerebellar Hypoplasia Type 7
Ambiguous genitalia, High palate, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysg... ORPHA:284339
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia, Abnormality of the urethra ORPHA:158684
Ehlers-Danlos Syndrome, Vascular Type
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Cervical insufficiency, Fin... OMIM:130050
Pallister-Killian Syndrome
Short phalanx of finger, Bifid uvula, Hip dislocation, Supernumerary nipple, Hypoplastic labia ma... OMIM:601803
Loeys-Dietz Syndrome
Camptodactyly of finger, High palate, Bifid uvula, Uterine rupture, Arachnodactyly ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Cognitive impairment, Uterine prolapse, Uterine rupture, Congenital hi... 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.

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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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