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Gene: Usp50 MGI:1922333

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Gene Summary

Name:
ubiquitin specific peptidase 50
Synonyms:
1700086G18Rik,  4930511O11Rik

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
irregularly shaped pupil Usp50tm1(KOMP)Vlcg HET Early adult 1.70×10-05
decreased prepulse inhibition Usp50tm1(KOMP)Vlcg HET Early adult 6.51×10-05
preweaning lethality, complete penetrance Usp50tm1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Usp50 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 Usp50 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Facial Spasm
Anisocoria OMIM:134300
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Coats Disease
Leukocoria OMIM:300216
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Alexander Disease
Microcoria OMIM:203450
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Proteus-Like Syndrome
Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis ORPHA:2969
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Duane Retraction Syndrome
Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret... ORPHA:233
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity ORPHA:1764
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Miller Fisher Syndrome
Anisocoria, Mydriasis ORPHA:98919
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Abnormal pupil morphology ORPHA:90658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane OMIM:613150
Iatrogenic Botulism
Mydriasis ORPHA:254509
Wound Botulism
Mydriasis ORPHA:178475
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Inhalational Botulism
Mydriasis ORPHA:254504
Congenital Fibrosis Of Extraocular Muscles
Anisocoria, Abnormal pupil shape, Cataract ORPHA:45358
Nephronophthisis 11
Anisocoria OMIM:613550
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Botulism
Mydriasis ORPHA:1267
Trichinellosis
Anisocoria, Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology ORPHA:863
Revesz Syndrome
Megalocornea, Leukocoria OMIM:268130
Foodborne Botulism
Mydriasis ORPHA:228371
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... OMIM:267750
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Lenti... ORPHA:534
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria OMIM:615510
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Scalp-Ear-Nipple Syndrome
Anisocoria, Cataract, Iris coloboma, Developmental cataract OMIM:181270
Retinoblastoma
Hypopyon, Heterochromia iridis, Leukocoria, Uveitis ORPHA:790
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Charcot-Marie-Tooth Disease Type 4C
Anisocoria ORPHA:99949
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Serotonin Syndrome
Mydriasis ORPHA:43116
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria OMIM:618653
Superficial Siderosis
Anisocoria ORPHA:247245
Retinoblastoma
Leukocoria OMIM:180200
Cutis Marmorata Telangiectatica Congenita
Leukocoria ORPHA:1556
Pituitary Apoplexy
Mydriasis ORPHA:95613
Arachnoid Cyst
Mydriasis ORPHA:2356
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Osteopetrosis, Autosomal Recessive 5
Mydriasis OMIM:259720
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Iris coloboma, Rieger anomaly OMIM:194190
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Mowat-Wilson Syndrome
Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma OMIM:235730
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Ax... ORPHA:261552
Witteveen-Kolk Syndrome
Anisocoria, Cataract, Iris coloboma OMIM:613406
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Cocaine Intoxication
Mydriasis ORPHA:90068
Sponastrime Dysplasia
Microcoria, Cataract, Congenital aphakia ORPHA:93357
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology ORPHA:286
Scorpion Envenomation
Mydriasis ORPHA:466677
Plague
Conjunctival hyperemia, Mydriasis ORPHA:707

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 Usp50

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 Usp50.

No publications found that use IMPC mice or data for Usp50.

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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
Usp50tm114861(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Usp50tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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