This mutation was identified in an ENU mutagenesis screen. It constitutes a T-to-G transversion in intron 12 that results in altered mRNA splicing. Homozygous mutant mice express two processed transcripts, the normal, wild-type mRNA and a second lacking exon 12 and having a premature stop codon in exon 13. T cells of mutant mice express reduced levels of SLP76/LCP2.

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6JSfdAnu
Chemically induced
Single point
Recessive
1
1
2

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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