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中文
在exon 19内的AGT到GCC的核苷酸替换导致了第743位氨基酸由Alanine变为Serine（S743A）。通过Flp介导的重组，去除了下游插入的loxP-和FRT标记的诺卡因抗性基因组。这产生了能抑制溶酶体酶活性的突变。小鼠在血浆中表达正常蛋白水平，但对Plm显色底物S2251无活性，尽管能形成二聚体Plm（来源：J:210802）。
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
