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EN
ENU-induced T to C transition at base pair 75,864,357 (v38) on chromosome 15, or base pair 2,217 in the GenBank genomic region NC_000081 encoding Gsdmd. The mutation corresponds to residue 483 in the NM_026960 mRNA sequence in exon 3 of 11 total exons. The mutation results in a serine (S) to proline (P) substitution at residue 112 (S112P) in the GSDMD protein. (J:267555)
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
