About   Help   FAQ
Cochtm1Mrtn
Targeted Allele Detail
Nomenclature
Symbol: Cochtm1Mrtn
Name: coagulation factor C homolog (Limulus polyphemus); 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
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
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. 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)
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
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:  7 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/23/2015
MGI 5.22
The Jackson Laboratory