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中文
总结三体性甲状腺功能低下症感光形式，是将exon 22的一部分和exon 23全部替换为一段人类cDNA片段，其中带有arginine到tryptophan的错义突变。对睾丸总RNA的Northern blot分析显示了突变转录本的过表达。由于缺乏能检测杂合蛋白的抗体，无法进行蛋白质水平分析。(来源：J:48256)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
