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Gene: Ush2a MGI:1341292

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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

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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, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Usher Syndrome, Type Iia
Congenital sensorineural hearing impairment, Rod-cone dystrophy OMIM:276901
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of pattern vis... OMIM:616648
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Hear... ORPHA:141
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Abnormal re... ORPHA:1215
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode... OMIM:256600
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Sensorineural hearing impairment, Abnormal auditory evok... ORPHA:320401
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Sensorineural hearing impairment, Optic atrophy, Low-set... ORPHA:2971
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Sensorineural... ORPHA:52368
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Attached earlobe, Patchy atrophy of the retinal pigment epithelium, Macrotia, Undetectable visual... ORPHA:436245
Krabbe Disease
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduction vel... OMIM:245200
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Sensorineural hearing impairment, Optic atrophy, Undetectable visual evoked potentials, Progressi... OMIM:601338
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy, Cerebral cortical atrophy, Hearing impair... ORPHA:702
Mepan Syndrome
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials ORPHA:508093
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Abno... OMIM:616875
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm... ORPHA:485421
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormality of visual evok... ORPHA:1933
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormal pinna morphology, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Abnormality ... ORPHA:480898
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Sensorineural hearing impairment, Undetec... ORPHA:423479
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor, Cleft earlobe, Anterior creases of ea... ORPHA:314389
Micro Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Optic atrophy, Retinal co... ORPHA:2510
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, Brain atrophy, Cerebral atrophy OMIM:609304
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Corpus callosum atrophy, Abnormal amplitude of flash visual evoked potentials... ORPHA:168491
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of v... ORPHA:35069
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... OMIM:231550
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural hearing impairment, A... ORPHA:309256
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... ORPHA:79431
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural hearing impairment, A... ORPHA:309263
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Sensorineural hearing ... ORPHA:791
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Cln5 Disease
Cerebellar atrophy, Atrophy/Degeneration affecting the central nervous system, Corpus callosum at... ORPHA:228360
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormality ... ORPHA:206443
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural hearing impairment, A... ORPHA:309271
White-Sutton Syndrome
Posteriorly rotated ears, Optic nerve hypoplasia, Sensorineural hearing impairment, Cerebral atro... OMIM:616364
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials, Brain atrophy OMIM:614457
Mogs-Cdg
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Sensorineural heari... ORPHA:79330
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentia... OMIM:216400
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism ORPHA:79430
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression, Otitis media, Hearing impairment ORPHA:667
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Hearing impairment, Abnormality of visual evoked potentials 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)
Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral atrophy, Abnormality of visual ... OMIM:203700
Usher Syndrome Type 2
Subcortical cerebral atrophy, Abnormality of the inner ear, Cerebral cortical atrophy, Sensorineu... 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.

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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

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