banner
Genes Phenotypes Help, News, Blog

Gene: Ush2a MGI:1341292

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
usherin
Synonyms:
MUSH2A,  A930011D15Rik,  Ushrn,  Ush2a,  LOC269160,  A930037M10Rik,  LOC381317

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Ush2a 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 predicted to be associated to Ush2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Stargardt Disease
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... ORPHA:827
Usher Syndrome, Type Iia
Rod-cone dystrophy, Congenital sensorineural hearing impairment OMIM:276901
Optic Atrophy 8
Sensorineural hearing impairment, Abnormality of pattern visual evoked potentials, Optic atrophy,... OMIM:616648
Canavan Disease
Abnormality of visual evoked potentials, Hearing impairment, Optic atrophy, Abnormality of retina... ORPHA:141
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Bone spicul... OMIM:618195
Retinitis Pigmentosa 39
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613809
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer ... ORPHA:1215
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Neuronal loss in central nervous system, ... OMIM:256600
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormality of visual e... OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of somatosenso... ORPHA:320401
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Mild neurosensory hearing impairment, Optic atrophy, Decreased motor nerve conduction velocity, T... OMIM:601152
Peroxisomal Acyl-Coa Oxidase Deficiency
Low-set ears, Abnormality of visual evoked potentials, Sensorineural hearing impairment, Optic at... ORPHA:2971
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Rod-cone dystrophy, Macrotia, Undetectable visual evoked potentials, Patchy atrophy of the retina... ORPHA:436245
Krabbe Disease
Optic atrophy, Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve... OMIM:245200
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Postlingual sensorineural hearing impairment, Sensorineural hearing impairm... ORPHA:52368
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Oculocutaneous Albinism Type 1
Depigmented fundus, Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of the c... ORPHA:352731
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Undetectable visual evoked potentials, Sensorineural hearing impairment, Optic atrophy, Progressi... OMIM:601338
Pelizaeus-Merzbacher Disease
Cerebral cortical atrophy, Abnormality of visual evoked potentials, Hearing impairment, Optic atr... ORPHA:702
Mepan Syndrome
Cerebellar atrophy, Cerebral atrophy, Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormality of visual evok... ORPHA:1933
Peho Syndrome
Neuronal loss in central nervous system, Undetectable visual evoked potentials, Cerebellar atroph... OMIM:260565
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Brain atrophy, Optic atrophy, Abnormality of visual evoked potentials, Cerebral atrophy, Cerebell... OMIM:616875
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Sensorineural hearing impairment, Undetectable visual evoked potentials, Retinal dystrophy, Low-s... ORPHA:423479
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Diffuse cerebellar atrophy, Cerebral atro... ORPHA:480898
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Cerebellar atrophy, Optic disc pallor, Abnorm... ORPHA:485421
Xq12-Q13.3 Duplication Syndrome
Anterior creases of earlobe, Optic disc pallor, Cleft earlobe, Abnormality of visual evoked poten... ORPHA:314389
Micro Syndrome
Macrotia, Cerebral cortical atrophy, Optic atrophy, Abnormality of retinal pigmentation, Low-set,... ORPHA:2510
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, Cerebral atrophy OMIM:609304
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action potentials, Ab... OMIM:229300
Late Infantile Neuronal Ceroid Lipofuscinosis
Corpus callosum atrophy, Retinal degeneration, Cerebral atrophy, Cerebellar atrophy, Abnormality ... ORPHA:168491
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Bila... ORPHA:309256
Infantile Neuroaxonal Dystrophy
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormal autonomic nervous system phys... ORPHA:35069
Oculocutaneous Albinism Type 1A
Abnormal optic nerve morphology, Hypoplasia of the fovea, Abnormality of visual evoked potentials... ORPHA:79431
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Bila... ORPHA:309263
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Abnormality of visual evok... OMIM:231550
Retinitis Pigmentosa
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormality of re... ORPHA:791
Infantile Krabbe Disease
Optic atrophy, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Prolonged brainstem... ORPHA:206436
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Abnormality ... ORPHA:206443
Metachromatic Leukodystrophy, Adult Form
Orthostatic hypotension due to autonomic dysfunction, Optic atrophy, Decreased nerve conduction v... ORPHA:309271
Cln5 Disease
Cerebral cortical atrophy, Abnormality of visual evoked potentials, Atrophy/Degeneration affectin... ORPHA:228360
White-Sutton Syndrome
Rod-cone dystrophy, Sensorineural hearing impairment, Optic nerve hypoplasia, Abnormality of the ... OMIM:616364
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials, Brain atrophy OMIM:614457
Mogs-Cdg
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sensorineural heari... ORPHA:79330
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Retinal atrophy, Abnormal auditory evoked potent... OMIM:216400
Cerebrotendinous Xanthomatosis
Global brain atrophy, Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal aud... ORPHA:909
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:133540
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Hermansky-Pudlak Syndrome
Abnormal optic nerve morphology, Abnormality of visual evoked potentials, Ocular albinism ORPHA:79430
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression, Hearing impairment, Otitis media ORPHA:667
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Hearing impairment ORPHA:512
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Pontocerebellar atrophy, Facial palsy ORPHA:258
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Neuronal loss in central nervous system, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical ... OMIM:203700
Usher Syndrome Type 2
Cerebral cortical atrophy, Sensorineural hearing impairment, Subcortical cerebral atrophy, Abnorm... ORPHA:231178

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 Ush2a

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 Ush2a.

No publications found that use IMPC mice or data for Ush2a.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Ush2atm40469(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ush2atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ush2atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter