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An ENU-induced A to G transition at base pair 79163319 (v38) on chromosome 15, or base pair 1172 in the GenBank genomic region NC_000081 encoding Sox10. The mutation corresponds to residue 685 in the NM_011437.1 mRNA sequence in exon 2 of 4 total exons. The mutation results in a glutamic acid (E) to glycine (G) substitution at residue 133. (J:200817)
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
