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| Nomenclature |
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Symbol:
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Ush1cdfcr-2J
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Name:
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Usher syndrome 1C;
deaf circler 2 Jackson
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MGI ID: |
MGI:2651859 |
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Gene:
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Ush1c
Location:
Chr7:46195350-46238503 bp, - strand
Genetic Position: Chr7,
29.66 cM, cytoband B3
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Mutation
origin |
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Strain of Origin:
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B6;129S4-Add2tm1Llp
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Intragenic deletion |
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Mutation details: The dfcr-2J mutation has been identified as the deletion of a single base pair, the fourth nucleotide in the inner ear-specific exon C of the 28-exon Ush1c gene. This shifts the translational reading frame shift so that 38 incorrect amino acids are incorporated before a premature stop codon is encountered. (J:85400)
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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:85400
Johnson KR et al.,
"Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene."
Hum Mol Genet 2003 Dec 1;12(23):3075-86
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All: |
2 reference(s)
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Analysis Tools
