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在第五外显子14bp前的第四内含子处，经ENU诱变产生了A到A的转换。进行了补救实验来确定受影响的基因。虽然通过RT-PCR可检测到转录本，但产生的蛋白质在睾丸、脾、胰腺和心脏中的酶活性不到野生型的1%。(来源：J:125094)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
