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| Nomenclature |
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Symbol:
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Cdh23Jera
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Name:
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cadherin 23 (otocadherin);
jera
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MGI ID: |
MGI:5140884 |
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Synonyms: |
Cdh23V2360E |
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Gene:
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Cdh23
Location:
Chr10:60302748-60696490 bp, - strand
Genetic Position: Chr10,
30.11 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: ENU induced a T to A missense mutation at nucleotide 7097 resulting in a valine to glutamic acid substitution at amino acid 2360. This mutation falls within a highly conserved calcium binding motif in extracellular domain 22. Immunofluorescence analysis is lost from both inner and outer hair cells by P30 in homozygous mice. (J:174130)
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Inheritance: | |
Semidominant |
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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 Cdh23 Mutation:
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58 strains or lines available |
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| References |
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Original: |
J:174130
Manji SS et al.,
"An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice."
Am J Pathol 2011 Aug;179(2):903-14
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All: |
1 reference(s)
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Analysis Tools
