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Targeted Allele Detail
Symbol: Col8a2tm1.1Asj
Name: collagen, type VIII, alpha 2; targeted mutation 1.1, Albert S Jun
MGI ID: MGI:5305275
Synonyms: Col8a2Q455K
Gene: Col8a2  Location: Chr4:126286793-126314330 bp, + strand  Genetic Position: Chr4, 60.29 cM
Germline Transmission:  Earliest citation of germline transmission: J:179022
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsA floxed pgk-neo cassette upstream of exon 4 and a C to A mutation in exon 4 resulting in a glutamine to lysine substitution at amino acid position 455 (Q455K), were introduced via homologous recombination. Cre mediated recombination removed the neo cassette. (J:179022)
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Col8a2 Mutation:  6 strains or lines available
Original:  J:179022 Jun AS, et al., An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis. Hum Mol Genet. 2012 Jan 15;21(2):384-93
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.03
The Jackson Laboratory