Ush1c^dfcr-2J
Spontaneous Allele Detail

Summary

• Symbol: Ush1c^dfcr-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: Ush1c^dfcr-2J page

Mutation origin

• Strain of Origin: B6;129S4-Add2^tm1Llp

Mutation description

• 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

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: 50 strains or lines available

References

• 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)