Coch^tm1Mrtn
Targeted Allele Detail

Summary

• Symbol: Coch^tm1Mrtn
• Name: cochlin; targeted mutation 1, Cynthia C Morton
• MGI ID: MGI:3814536
• Synonyms: Coch^G88E
• Gene: Coch Location: Chr12:51640156-51652558 bp, + strand Genetic Position: Chr12, 22.11 cM
• Alliance: Coch^tm1Mrtn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:140594
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Humanized sequence, Modified isoform(s))
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A targeting construct consisting of introns 3-8 was constructed with a nucleotide change (A to G) in exon 5 to mutate amino acid 88 from a glycine to a glutamic acid (G88E). A loxP-flanked neomycin resistance cassette was also introduced into intron 5. Founder mice were bred with EIIa-cre mice to excise the selection cassette, leaving behind a single loxP site in intron 5. Expression of the mutant gene was confirmed by RT-PCR and by immunohistochemistry on inner ear sections. (J:140594)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Coch Mutation: 42 strains or lines available

References

• Original: J:140594 Robertson NG, et al., A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction. Hum Mol Genet. 2008 Nov 1;17(21):3426-34
• All: 2 reference(s)