Col4a1^Svc
Chemically induced Allele Detail

Summary

• Symbol: Col4a1^Svc
• Name: collagen, type IV, alpha 1; small with vacuolar cataract
• MGI ID: MGI:2178448
• Synonyms: Col4a1^G1064D, Gena291, GENA 291
• Gene: Col4a1 Location: Chr8:11248423-11362826 bp, - strand Genetic Position: Chr8, 5.53 cM
• Alliance: Col4a1^Svc page

Mutation origin

• Strain of Origin: (C3H/HeN x BALB/cAnN)F1
• Project Collection: Harwell ENU Mutagenesis

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis resulted in an G>A point mutation in exon 37 resulting in the substitution of the critical glycine residue with an aspartic acid at position 1064 (p.G1064D). The mutation is predicted to result in severe detrimental effects on collagen triple helix formation and stability. (J:102749)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Col4a1 Mutation: 77 strains or lines available

References

• Original: J:75964 Thaung C, et al., Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum Mol Genet. 2002 Apr 1;11(7):755-67
• All: 8 reference(s)