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| Nomenclature |
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Symbol:
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Ush2atm1Tili
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Name:
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Usher syndrome 2A (autosomal recessive, mild);
targeted mutation 1, Tiansen Li
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MGI ID: |
MGI:3702040 |
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Synonyms: |
Ush2a- |
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Gene:
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Ush2a
Location:
Chr1:188262023-188965041 bp, + strand
Genetic Position: Chr1,
92.29 cM
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Retinal degeneration in the Ush2atm1Tili/Ush2atm1Tili mouse
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:118927
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Most of exon 5 was replaced by a neomycin resistance cassette. (J:118927)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Ush2a Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:118927
Liu X et al.,
"Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells."
Proc Natl Acad Sci U S A 2007 Mar 13;104(11):4413-8
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All: |
3 reference(s)
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Analysis Tools
