This mutation was identified in a screen of progeny of ENU mutagenized male mice for immunologic phenotypes. It is a C-to-A transversion in exon 5 (at nucleotide position 938 of cDNA sequence NCBI BC055453) that causes replacement of the neutral amino acid threonine with a charged lysine residue (T227K) in the fourth of six transmembrane domains. (J:100424)

Basic Information

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