Trpc1^M2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Trpc1^M2Btlr
• Name: transient receptor potential cation channel, subfamily C, member 1; mutation 2, Bruce Beutler
• MGI ID: MGI:6283673
• Synonyms: Enlarged
• Gene: Trpc1 Location: Chr9:95587135-95632428 bp, - strand Genetic Position: Chr9, 50.2 cM, cytoband E4
• Alliance: Trpc1^M2Btlr 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 G transition at base pair 95,721,471 (v38) on chromosome 9, or base pair 28,917 in the GenBank genomic region NC_000075 within the splice acceptor site of intron 6 (2-base pairs from exon 7 [out of 13 total exons]). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in exon 7. The resulting transcript would have a 14-base pair deletion of exon 7, causing an in-frame deletion of four amino acids beginning after amino acid 336 of the protein, which is normally 809 amino acids long. An alternative cryptic site in exon 7 may also be used (not shown), causing a 56-base pair deletion of exon 7. The use of this cryptic site would cause an in-frame deletion of 18 amino acids beginning after amino acid 336 of the protein. (J:272025)
• Inheritance: Semidominant

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 Trpc1 Mutation: 39 strains or lines available

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3869

References

• Original: J:272025 Zhang Z, et al., Mutagenetix entry for Enlarged. MGI Direct Data Submission. 2019
• All: 1 reference(s)