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中文
这种自然存在的特定菌株等位基因是minor allele，它对应于rs30712233编码SNP的A变异和rs49812611剪接区域SNP的C变异。在DBA/2J、C3H/HeJ和BALB/cByJ等品种中能找到。这两个变异在对照的C57BL/6J中是G和T，而在AKR/J和129S1/SvImJ等其他品种中也是如此。G>A变异（c.1976C>T）导致了密码子659由Thr变为Ile（p.T659I），而T>C的剪接变异在第9个碱基的第19个内含子（c.1875+9A>G）会破坏剪接，通过激活一个4NT的潜在剪接起始点，导致插入和产生早停密码子，造成框架移位。信息来源：J:154116, J:339644
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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References Literature
Title
PMID
Journal
Year
IF
