Col8a2^Aca23
Chemically induced Allele Detail

Summary

• Symbol: Col8a2^Aca23
• Name: collagen, type VIII, alpha 2; ACMaster abnormality 23
• MGI ID: MGI:4438451
• Synonyms: Aca23, ColVIIIa2^G257D
• Gene: Col8a2 Location: Chr4:126180613-126208123 bp, + strand Genetic Position: Chr4, 60.29 cM
• Alliance: Col8a2^Aca23 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induces a G to A transition that results in the amino acid substitution of aspartic acid for glycine at position 257 (G257D). (J:158259)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

6 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:158259 Puk O, et al., Reduced corneal thickness and enlarged anterior chamber in a novel ColVIIIa2G257D mutant mouse. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5653-61
• All: 3 reference(s)