通过CRISPRA/Cas9技术,Fam83h基因中插入了一个带有标记的终止密码子(TGA),取代了位置1186-1188的谷氨酰胺密码子(CAG)。由此产生的FAM83H1-395是人类ADHCAI变异体c.1192C>T(p.Q398*)的缺失部分(来源:J:330612)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
插入
--
1
1
2

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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