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EN
ENU-induced G to T transversion at base pair 3,745,330 (v38) on chromosome 4, or base pair 67,210 in the GenBank genomic region NC_000070. The mutation corresponds to residue 546 in the mRNA sequence NM_001111096 (variant 1) within exon 5 of 13 total exons as well as residue 483 in the mRNA sequence NM_10747 (variant 2) within exon 5 or 13 total exons. The mutation results in a tryptophan (W) to cysteine (C) substitution at position 99 (W99C) in the protein. (J:236679)
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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References Literature
Title
PMID
Journal
Year
IF
