这个来自项目Smg9-6001-MP6R的等位基因是在Jackson实验室通过注入Cas9 RNA和指导序列TCTACGGGATAGAGCGGCGG产生的,导致第2外显子从7号染色体正链大约位置24,403,446bp处发生2个碱基的删除(GG)和10个碱基的插入(CTGGGTTCTA)。这个变异预测会导致15号残基后的氨基酸序列变化以及随后的88个氨基酸早期截断。定量实时PCR确认了转录表达的严重减少。(来源:J:188991, J:231968)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NJ
Endonuclease-mediated
插入,基因内删除
不确定
1
2
1

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
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