Col8a2^tm2.1Asj
Targeted Allele Detail

Summary

• Symbol: Col8a2^tm2.1Asj
• Name: collagen, type VIII, alpha 2; targeted mutation 2.1, Albert S Jun
• MGI ID: MGI:5774727
• Synonyms: Col8a2^L450W
• Gene: Col8a2 Location: Chr4:126180587-126208123 bp, + strand Genetic Position: Chr4, 60.29 cM
• Alliance: Col8a2^tm2.1Asj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:214908
• 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 T to G transversion results in the amino acid substitution of leucine to tryptophan at position 446 (L450W). Cre-mediated recombination removed the neomycin resistance cassette. (J:214908)

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:214908 Meng H, et al., L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy. Invest Ophthalmol Vis Sci. 2013 Mar;54(3):1887-97
• All: 2 reference(s)