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中文
在第8外显子的864位谷氨酸(甘氨酸(GAA))被替换为赖氨酸(AAA)，编码为c.2590G>A，p.E864K。同时，8号内含子插入了一个由loxP序列标记的诺卡因抗性基因座。之后，通过Cre介导的重组移除了这个neo cassette。这个变异等同于沃尔夫曼综合症(WS)中人类关联的同源变异。(引用：J:342760)
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
