Col6a2^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Col6a2^m1Btlr
• Name: collagen, type VI, alpha 2; mutation 1, Bruce Beutler
• MGI ID: MGI:6114017
• Synonyms: piddling
• Gene: Col6a2 Location: Chr10:76431596-76459464 bp, - strand Genetic Position: Chr10, 39.32 cM, cytoband B5-C1
• Alliance: Col6a2^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced G to A transition at base pair 76,608,106 (v38) on chromosome 10, or base pair 15,520 in the GenBank genomic region NC_000076 within the donor splice site of intron 16. The effect of the mutation at the cDNA and protein level has not examined, but the mutation is predicted to result in the use of a cryptic splice site in intron 16. The resulting transcript would have a 57-base pair insertion in intron 16, resulting an in-frame insertion of 19 amino acids after amino acid 480 (in both protein variants). The protein would terminate at the appropriate site. (J:255182)
• Inheritance: Recessive

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Col6a2 Mutation: 46 strains or lines available

References

• Original: J:255182 Turer E, et al., Mutagenetix entry for piddling. MGI Direct Data Submission. 2018
• All: 1 reference(s)