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EN
ENU-induced A to T transversion at base pair 58,603,179 (v38) on chromosome 10, or base pair 72,518 in the GenBank genomic region NC_000076.6. The mutation corresponds to residue 1,289 in the mRNA sequence NM_010100 within exon 12 of 12 total exons. The mutation results in a serine to cysteine substitution at position 344 (S344C) in the EDAR protein. (J:265254)
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
