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This mutation, discovered in a screen of the progeny of an ENU mutagenized mouse, has been identified as a G to C transversion at nucleotide 489 of the exonic sequence, in exon 6 of the gene, that results in replacement of the catalytic cysteine at amino acid position 163 by serine (C163S). (J:153800, J:166750)
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
