The torpid mutation, identified in an ENU mutagenesis screen for mutants with altered responses to Toll-like receptor (TLR) ligands, corresponds to an A-to-T transversion in the acceptor splice site of intron 6 (AG -> TG) (position 11943 in Genbank genomic region NC_000075). The gene has 7 exons, of which only the last three are translated. The presence of an in-frame stop codon in intron 6 causes premature termination of the protein after the anomalous addition of 3 amino acids, encoded by 9 intronic nucleotides, in place of the six C-terminal amino acids encoded by exon 7.

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
2
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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top