Summary | Mutation origin | Mutation description | Phenotypes | Disease models | Find Mice (IMSR) | References

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
Alliance:	Ush1cdfcr-2J page

Strain of Origin:

B6;129S4-Add2tm1Llp

Allele Type:    Spontaneous (Modified isoform(s)) Mutation:    Intragenic deletion   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) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

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:	50 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)