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EN
ENU-induced T to A transversion at base pair 58,833,698 (GRCm38) on chromosome 1, or base pair 38,471 in the GenBank genomic region NC_000067 encoding caspase-8. The mutation corresponds to residue 1,125 in the mRNA sequence NM_009812, within 7 of 9 exons. The mutation results in a histidine to glutamine substitution at position 244 (H244Q) in the caspase-8 protein (isoform 1). (J:272851)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
