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中文
PCR突变技术在第10外显子创建了I304N突变，将序列由CTG(Leu) ATT(Ile) CAA(Gln)变为CTT(Leu) AAC(Asn) CAG(Gln)。在第10内含子中插入了loxP-Auto-Cre-NeoR-loxP(ACNF)载体。Northern blot和定量RT-PCR结果显示，突变的mRNA在大脑和睾丸中表达水平与野生型相当，且大小正常。然而，Western blot显示蛋白质含量只有野生型的13-30%。RT-PCR产物的测序确认了这个突变的存在。(来源：J:155593)
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
