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| Nomenclature |
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Symbol:
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Cochtm1Mrtn
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Name:
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coagulation factor C homolog (Limulus polyphemus);
targeted mutation 1, Cynthia C Morton
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MGI ID: |
MGI:3814536 |
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Synonyms: |
CochG88E |
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Gene:
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Coch
Location:
Chr12:51593341-51605773 bp, + strand
Genetic Position: Chr12,
22.11 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:140594
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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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. 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
