Col8a2^tm1.1Asj
Targeted Allele Detail

Summary

• Symbol: Col8a2^tm1.1Asj
• Name: collagen, type VIII, alpha 2; targeted mutation 1.1, Albert S Jun
• MGI ID: MGI:5305275
• Synonyms: Col8a2^Q455K
• Gene: Col8a2 Location: Chr4:126180587-126208123 bp, + strand Genetic Position: Chr4, 60.29 cM
• Alliance: Col8a2^tm1.1Asj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:179022
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Col8a2 Mutation: 19 strains or lines available

References

• 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)