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Card11m8Btlr
Chemically induced Allele Detail
Summary
Symbol: Card11m8Btlr
Name: caspase recruitment domain family, member 11; mutation 8, Bruce Beutler
MGI ID: MGI:6305368
Synonyms: unmodulated2
Gene: Card11  Location: Chr5:140858745-140986337 bp, - strand  Genetic Position: Chr5, 79.42 cM
Alliance: Card11m8Btlr 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 detailsG to T (or C>A on the reverse (gene) strand) substitution at base pair 140,883,782 (v38) on chromosome 5, or base pair 116,815 in the GenBank genomic region NC_000071 encodingCard11 within intron 17. The effect 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 splice acceptor site in intron 17. Use of a cryptic site in intron 17 would result in the addition of 10 base pairs to the 5' end of exon 18, leading to a frame-shifted protein product beginning after amino acid 756 of the protein, which is normally 1,154 amino acids in length, and terminating after the inclusion of 44 aberrant amino acids. (J:274940)
Inheritance:    Recessive
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 Card11 Mutation:  59 strains or lines available
Notes
https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=2583
References
Original:  J:274940 Choi JH, et al., Mutagenetix entry for unmodulated2. 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