Col4a1^ENU6005
Chemically induced Allele Detail

Summary

• Symbol: Col4a1^ENU6005
• Name: collagen, type IV, alpha 1; ENU mutation 6005
• MGI ID: MGI:4822157
• Gene: Col4a1 Location: Chr8:11248423-11362826 bp, - strand Genetic Position: Chr8, 5.53 cM
• Alliance: Col4a1^ENU6005 page

Mutation origin

• Strain of Origin: C3H/HeJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: Male mice were exposed to three doses of 100mg/kg body weight of ENU. This resulted in a G to A nucleotide substitution at position 3670 (NCBI accession # NM_009931) and a glycine to aspartic acid substitution at amino acid residue 1180. (J:163225)
• Inheritance: Dominant

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Col4a1 Mutation: 78 strains or lines available

References

• Original: J:163225 Favor J, et al., Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification ofthe first two Col4a2 mutant alleles. Genetics. 2007 Feb;175(2):725-36
• All: 2 reference(s)