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Targeted Allele Detail
Symbol: Cochtm1Mrtn
Name: cochlin; targeted mutation 1, Cynthia C Morton
MGI ID: MGI:3814536
Synonyms: CochG88E
Gene: Coch  Location: Chr12:51593341-51605773 bp, + strand  Genetic Position: Chr12, 22.11 cM
Germline Transmission:  Earliest citation of germline transmission: J:140594
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
Mutation detailsA 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)
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 Coch Mutation:  17 strains or lines available
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)

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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 6.03
The Jackson Laboratory