Trpc1M2Btlr
Chemically induced Allele Detail
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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
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Alliance: |
Trpc1M2Btlr page
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Strain of Origin: |
C57BL/6J
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Project Collection: |
Beutler Mutagenetix
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Allele Type: |
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Chemically induced (ENU) (Not Specified) |
Mutation: |
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Single point mutation
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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)
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Inheritance: |
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Semidominant |
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Trpc1 Mutation: |
41 strains or lines available
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https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3869
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Original: |
J:272025 Zhang Z, et al., Mutagenetix entry for Enlarged. MGI Direct Data Submission. 2019; |
All: |
1 reference(s) |
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