Ush1c^tm1.1Ugds
Targeted Allele Detail

Summary

• Symbol: Ush1c^tm1.1Ugds
• Name: USH1 protein network component harmonin; targeted mutation 1.1, Unite de Genetique des Deficits Sensoriels
• MGI ID: MGI:3757683
• Synonyms: HMN ex1del
• Gene: Ush1c Location: Chr7:45844774-45887927 bp, - strand Genetic Position: Chr7, 29.66 cM, cytoband B3
• Alliance: Ush1c^tm1.1Ugds page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:135991
• Parent Cell Line: CK35 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 1 was replaced with a floxed neo cassette, exon 1 and an additional loxP site downstream of exon 1. Cre mediated recombination was used to remove exon 1. The absence of transcript was confirmed by RT-PCR analysis on inner ear and brain extracts. (J:135991)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:

1 assay results

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ush1c Mutation: 50 strains or lines available

References

• Original: J:135991 Lefevre G, et al., A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. Development. 2008 Apr;135(8):1427-37
• All: 7 reference(s)