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中文
在内皮2号染色体上插入了一个由loxP位点引导的STOP cassette，带有5'端的puromycin抗性基因 cassette。同时，内源性exon 3经过改造，第58位的C突变为T，导致了酪氨酸变为异亮氨酸的p.T58I变异，这种变异与诺兰综合症(Noonan syndrome)患者相关。(来源：J:296368)
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
