Col4a1^Raw
Chemically induced Allele Detail

Summary

• Symbol: Col4a1^Raw
• Name: collagen, type IV, alpha 1; retinal arteriolar wiring
• MGI ID: MGI:2178446
• Synonyms: Gena257, GENA 257
• Gene: Col4a1 Location: Chr8:11248423-11362826 bp, - strand Genetic Position: Chr8, 5.53 cM
• Alliance: Col4a1^Raw page

Mutation origin

• Strain of Origin: (C3H/HeN x BALB/cAnN)F1

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis resulted in an A>G point mutation in exon 34, resulting in the replacement of a positively charged lysine residue, located at the Yaa position (950), with a negatively charged glutamic acid (p.K950E). As it is located in the first Gly-Xaa-Yaa repeat following a major interruption of the repeats by non-repeat sequence, it may affect the structure at this highly flexible site. (J:102749)

Expression

In Structures Affected by this Mutation:

1 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: 78 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: 4 reference(s)