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Card11M2Btlr
Chemically induced Allele Detail
Summary
Symbol: Card11M2Btlr
Name: caspase recruitment domain family, member 11; mutation 2, Bruce Beutler
MGI ID: MGI:5497995
Synonyms: May
Gene: Card11  Location: Chr5:140858745-140986337 bp, - strand  Genetic Position: Chr5, 79.42 cM
Alliance: Card11M2Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThe causative mutation is a C to T transition at base pair 140876495 (v38) on Chromosome 5 in the GenBank genomic region NC_000071 encoding Card11. The mutation corresponds to residue 3367 in the mRNA sequence NM_175362 within exon 23 of 25 total exons. The mutation results in an arginine (R) to premature stop codon substitution at amino acid 1016. (J:198555) Additional incidental mutations were detected in sequencing for the causative mutation, Card11M2Btlr, and may be present in stocks carrying this mutation.
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: 1 strain available      Cell Lines: 0 lines available
Carrying any Card11 Mutation:  59 strains or lines available
Notes
Whole exome HiSeq sequencing of one of the resulting mice, an affected female, identified 26 mutations.
References
Original:  J:198555 Beutler B, Direct data submission for a Card11 allele. MGI Direct Data Submission. 2013;
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