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中文
在exon 2的第143位，甲硫氨酸( Methionine, Met)的密码子从ATG被替换成了缬氨酸(Glutamic Acid, Val)，这个变异用的是sgRNA(靶向序列：TTCAATGCTTGAAGACCCTTNGG)和ssODN模板，通过CRISPR/Cas9技术。这个突变等同于人类的p.M144V变异，位于非结构域(intrinsically disordered region, IDR)，与非光敏感性甲状腺肿大症(NP-TTD)关联。(来源：J:338438)
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
