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Trpc1M2Btlr
Chemically induced Allele Detail
Summary
Symbol: Trpc1M2Btlr
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: Trpc1M2Btlr 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 detailsENU-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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  41 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory