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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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, Abnormality of visual evoked potentials, Ap... ORPHA:827
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration, Abnormal flash visual evoked pote... OMIM:618195
Usher Syndrome, Type Iia
Rod-cone dystrophy, Congenital sensorineural hearing impairment OMIM:276901
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment, Abnormal audit... OMIM:616648
Canavan Disease
Hearing impairment, Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evo... ORPHA:141
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, Abnormality of visual evoked potentials, Sensorineural hearing impair... ORPHA:1215
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Decreased nerve co... OMIM:256600
Krabbe Disease
Hearing impairment, Decreased nerve conduction velocity, Diffuse cerebral atrophy, Neurodegenerat... OMIM:245200
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Hearing impairment,... OMIM:601455
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Tinnitus, Abnormality of visual evoked potentials, Mild neurosensory hearing impairment, Decrease... OMIM:601152
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Abnormality of visual evoked potentials, Abnormal... ORPHA:320401
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Low-set ears, Rod-cone dystrophy, Macrotia, Patchy atrophy of the retinal pigment epithelium, Att... ORPHA:436245
Peroxisomal Acyl-Coa Oxidase Deficiency
Sensorineural hearing impairment, Abnormality of visual evoked potentials, Optic atrophy, Low-set... ORPHA:2971
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Vestibular dysfunction, Caudate atrophy, Global b... ORPHA:52368
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Optic nerve misrouting, Abnormality of visual evoked potentials, Depigme... ORPHA:352731
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Sensorineural hearing impairment, Progressive sensorineural hearing impairment, Optic atrophy, He... OMIM:601338
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Cerebral cortical atrophy, Optic atrophy, Hearing impair... ORPHA:702
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebral atrophy, Cerebellar atrophy, Optic atrophy, Abnormality of visual evoked potentials, Cor... OMIM:616875
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Sensorineural hearing impairment, Decreased nerve conduc... ORPHA:1933
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor, Anterior creases of earlobe, Cleft ea... ORPHA:314389
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Cerebral atrophy, Abnormality of visual evoked potentials, Corpus callosum atrophy, Abnormal pinn... ORPHA:480898
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Low-set ears, Sensorineural hearing impairment, Optic disc pallor, Macular coloboma, Retinal dyst... ORPHA:423479
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity,... ORPHA:485421
Peho Syndrome
Neuronal loss in central nervous system, Cerebellar atrophy, Optic atrophy, Undetectable visual e... OMIM:260565
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Low-... ORPHA:2510
Developmental And Epileptic Encephalopathy 3
Cerebral atrophy, Abnormality of visual evoked potentials OMIM:609304
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Retinal degeneration, Abnormal amplitude of flash visual ev... ORPHA:168491
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Optic atrophy, Abnormality of visual evoked pot... OMIM:229300
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Abnormal autonomic nervous syst... OMIM:231550
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Abnormality of visual evoked potentials, Abnormal autonomic nervous system ph... ORPHA:35069
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Bilateral sensorineural hearing impairment, Optic atroph... ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Bilateral sensorineural hearing impairment, Optic atroph... ORPHA:309263
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... ORPHA:79431
Retinitis Pigmentosa
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Conductive hearing impairm... ORPHA:791
Warburg Micro Syndrome 2
Global brain atrophy, Asymmetry of the ears, Macrotia, Optic atrophy, Undetectable visual evoked ... OMIM:614225
Infantile Krabbe Disease
Cherry red spot of the macula, Abnormality of visual evoked potentials, Decreased nerve conductio... ORPHA:206436
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Prolonged brainstem auditory evoked potentials, Decrease... ORPHA:206443
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Bilateral sensorine... ORPHA:309271
Cln5 Disease
Cerebellar atrophy, Atrophy/Degeneration affecting the central nervous system, Abnormality of vis... ORPHA:228360
White-Sutton Syndrome
Abnormality of the outer ear, Cerebral atrophy, Low-set ears, Sensorineural hearing impairment, A... OMIM:616364
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials, Brain atrophy OMIM:614457
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic atrophy, Abnormality... ORPHA:79330
Cockayne Syndrome A
Cerebral atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Sensorineural hear... OMIM:216400
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Cerebellar atrophy, Global brain atrophy, Optic n... ORPHA:909
Cockayne Syndrome B
Cerebral atrophy, Abnormality of visual evoked potentials, Sensorineural hearing impairment, Decr... OMIM:133540
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Neuronal loss in central nervous system, Cerebellar atrophy, Abnormality of visual evoked potenti... OMIM:203700
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Ocular albinism, Abnormality of the optic nerve ORPHA:79430
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression, Otitis media, Hearing impairment ORPHA:667
Metachromatic Leukodystrophy
Hearing impairment, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:512
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Facial palsy, Abnormality of visual evoked potentials ORPHA:258
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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