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中文
在exon 2内的核苷酸替换导致了第124位丝氨酸被苏氨酸(S124T)、第125位苯丙氨酸被亮氨酸(L125F)、第127位赖氨酸被精氨酸(L127R)和第128位甘氨酸被天冬酰胺(N128Q)的氨基酸替换。这些变异阻止了蛋白质的酶切，使其无法形成可溶性形式。用于选择的floxed neo cassette通过Cre介导的重组被移除。(来源：J:171440)
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
