ENU诱变产生了在第112位由AAC变为GAC的核苷酸替换,导致第112位氨基酸从色氨酸替换为天冬氨酸(N112D)。这个突变发生在辅基结合域,使得杂合子的酶活性降低到野生型的58%(来源:J:45877)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(102/El x C3H/El)F1
Chemically induced
单点
隐性
1
1
4

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

References Literature

Title
PMID
Journal
Year
IF
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