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中文
通过同源重组打断外显子5，插入了诺卡因 cassette，导致了4到6号外显子的剪接。这引入了一个早发的终止密码子。纯合突变小鼠在所有组织中均未检测到β-mannosidase活性，杂合子的酶活性大约只有野生型的一半。与野生型相比，突变体的α-mannosidase活性有所增加，特别是在老年时。(来源：J:105427)
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
