The causative mutation is a C to T transition at base pair 140876495 (v38) on Chromosome 5 in the GenBank genomic region NC_000071 encoding Card11. The mutation corresponds to residue 3367 in the mRNA sequence NM_175362 within exon 23 of 25 total exons. The mutation results in an arginine (R) to premature stop codon substitution at amino acid 1016. (J:198555) Additional incidental mutations were detected in sequencing for the causative mutation, Card11M2Btlr, and may be present in stocks carrying this mutation.

Basic Information

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

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