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An ENU induced mutation that was shown to express 50% of normal levels of the encoded enzyme in heterozygous mice. This mutation has been shown to be a T to A transversion at nucleotide position 982 in exon 6. This results in a tyrosine to asparginine substitution at amino acid residue 327. (J:126359)
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
