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| Nomenclature |
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Symbol:
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Cdh23v-2J
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Name:
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cadherin 23 (otocadherin);
waltzer 2 Jackson
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MGI ID: |
MGI:2154548 |
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Synonyms: |
Cdh23v-2J |
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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/6J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: A G-to-A transition at the first nucleotide of intron 32 alters the wild-type donor splice site. RT-PCR analysis demonstrated that aberrant transcripts were produced from this allele, and all of these were predicted to introduce a premature stop codon. (J:66698)
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Inheritance: | |
Recessive |
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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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| References |
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Original: |
J:66698
Di Palma F et al.,
"Mutations in cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for usher syndrome type 1D"
Nat Genet 2001 Jan;27(1):103-7
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All: |
18 reference(s)
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Analysis Tools
