Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 Ush2a by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Usher Syndrome, Type Iia | Congenital sensorineural hearing impairment, Rod-cone dystrophy | OMIM:276901 | |
Retinitis Pigmentosa 39 | Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy | OMIM:613809 | |
Retinitis Pigmentosa | Optic atrophy, Conductive hearing impairment, Attenuation of retinal blood vessels, Abnormality o... | ORPHA:791 | |
Usher Syndrome Type 2 | Abnormality of the inner ear, Subcortical cerebral atrophy, Cerebral cortical atrophy, Sensorineu... | ORPHA:231178 |
The table below shows human diseases predicted to be associated to Ush2a by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Usher Syndrome, Type Iia | Congenital sensorineural hearing impairment, Rod-cone dystrophy | OMIM:276901 | |
Retinitis Pigmentosa 39 | Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy | OMIM:613809 | |
Retinitis Pigmentosa | Optic atrophy, Conductive hearing impairment, Attenuation of retinal blood vessels, Abnormality o... | ORPHA:791 | |
Usher Syndrome Type 2 | Abnormality of the inner ear, Subcortical cerebral atrophy, Cerebral cortical atrophy, Sensorineu... | ORPHA:231178 |
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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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