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EN
ENU-induced A to G transition at base pair 98,242,714 (v38) on chromosome 12, or base pair 16,750 in the GenBank genomic region NC_000078 encoding Galc. The mutation corresponds to residue 810 in the NM_008079 mRNA sequence in exon 7 of 17 total exons. The mutation results in an aspartic acid to glycine substitution at position 227 (D227G) in the GALC protein. (J:274842)
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
