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第41外显子被替换为一个经过修饰的第41外显子，包含GGG替换为AGC的核苷酸变异，导致第2019位的丝氨酸被甘氨酸替换(苏氨酸到甘氨酸，G2019S)。下游插入了一个克里格里姆(cre)依赖的Neo标记 cassette，通过Cre介导的重组可以去除。这种变异在杂合子中使激酶活性大约增加1.8倍，纯合子中则增加4倍。(来源：J:223350)
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
