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Spontaneous Allele Detail
Symbol: Ush1cdfcr-2J
Name: USH1 protein network component harmonin; deaf circler 2 Jackson
MGI ID: MGI:2651859
Gene: Ush1c  Location: Chr7:45844774-45887927 bp, - strand  Genetic Position: Chr7, 29.66 cM, cytoband B3
Strain of Origin:  B6;129S4-Add2tm1Llp
Allele Type:    Spontaneous (Modified isoform(s))
Mutation:    Intragenic deletion
Mutation detailsThe 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)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ush1c Mutation:  32 strains or lines available
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
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.17
The Jackson Laboratory