Ush1c^tm1.1Mull
Targeted Allele Detail

Summary

• Symbol: Ush1c^tm1.1Mull
• Name: USH1 protein network component harmonin; targeted mutation 1.1, Ulrich Mueller
• MGI ID: MGI:4436726
• Synonyms: harmonin-PDZ2^AAA
• Gene: Ush1c Location: Chr7:45844774-45887927 bp, - strand Genetic Position: Chr7, 29.66 cM, cytoband B3
• Alliance: Ush1c^tm1.1Mull page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:157359
• Parent Cell Line: CCE/EK.CCE (ES Cell)
• Strain of Origin: 129S/SvEv-Gpi1^c

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A GLG motif was mutated to AAA in the PDZ2 domain, within exon 8, in addition an FRT flanked neo cassette was inserted in intron 6 by homologous recombination. The neo cassette was removed by flp mediated recombination. This mutation is predicted to disrupt protein interactions with CDH23. Whole mount analysis revealed mislocalization of the mutant protein (widely distributed) in cochlear stereocilia from homozygous mice. (J:157359)

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:157359 Grillet N, et al., Harmonin mutations cause mechanotransduction defects in cochlear hair cells. Neuron. 2009 May 14;62(3):375-87
• All: 3 reference(s)