This mutation was identified in a screen of G3 progeny of ENU mutagenized male mice for altered responses to toll-like receptor (TLR) ligands. The mutation is a T to A transversion in the acceptor splice site of intron 4 (TTGCAG --> TAGCAG), at nucleotide position 13346 of the genomic sequence (Genbank accession NC_000084). Three differently spliced transcripts have been observed in the mutant mice, one of which is similar in size to the wild type mRNA. One of the aberrant splicing events skips exon 5 and causes a frame shift. The second abnormal splicing event joins exon 3 to exon 6 in-frame, skipping exons 4 and 5.

Basic Information

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