Col3a1^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Col3a1^m1Btlr
• Name: collagen, type III, alpha 1; mutation 1, Bruce Beutler
• MGI ID: MGI:6283535
• Synonyms: kraken
• Gene: Col3a1 Location: Chr1:45350698-45388866 bp, + strand Genetic Position: Chr1, 23.67 cM
• Alliance: Col3a1^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 A to T transversion at base pair 45,327,866 (v38) on chromosome 1, or base pair 16,329 in the GenBank genomic region NC_000067 encoding Col3a1 within the donor splice site of intron 10. The effects of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of a cryptic site in exon 10. The resulting transcript would have a 17-base pair deletion of exon 10, which would cause a frame shifted protein product beginning after amino acid 260 of the protein and terminating after the inclusion of 1 aberrant amino acids. (J:271973)
• 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 Col3a1 Mutation: 85 strains or lines available

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=1583

References

• Original: J:271973 SoRelle J, et al., Mutagenetix entry for Kraken. MGI Direct Data Submission. 2019
• All: 1 reference(s)