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Spontaneous Allele Detail
Symbol: Ush1cdfcr-2J
Name: Usher syndrome 1C; deaf circler 2 Jackson
MGI ID: MGI:2651859
Gene: Ush1c  Location: Chr7:46195350-46238503 bp, - strand  Genetic Position: Chr7, 29.66 cM, cytoband B3
Strain of Origin:  B6;129S4-Add2tm1Llp
Allele Type:    Spontaneous
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 for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
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:  8 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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
The Jackson Laboratory