ENU-induced T to C transition at base pair 111,322,748 (v38) on chromosome 8, or base pair 15,709 in the GenBank genomic region NC_000074. The mutation corresponds to residue 1,126 in the mRNA sequence NM_001310613 within exon 5 of 11 total exons. The mutation results in a serine to proline substitution at position 248 (S248P) in the MLKL protein. (J:272831)

Basic Information

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