This mutation was identified in a screen of G3 progeny of an ENU-mutagenized male mouse for developmental and/or functional CD8+ T cell abnormalities. It comprises an A-to-T transversion at nucleotide position 1791 of the gene (Genbank Accession NM_175362.1) that is predicted to result in replacement of leucine by glutamine at amino acid position 525 of the 1159-amino acid protein (L525Q). Western blot analysis detects no CARD11 protein from the mutant allele in the spleen or lymph nodes, and thymic expression is reduced. (J:139069)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
7
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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