CRISPR/Cas9技术删除了8个碱基(5693-5697,CCACC,和5699-5701,CTC),在C端产生了一个frameshift,并随后是一个终止密码子,跟着26个潜在的新氨基酸。在T1898处的截断移除了通道辅助亚基calmodulin的结合位点,该亚基调节持久的钠电流。该基因最终外显子的蛋白质截断变异在多种自闭症谱系障碍关联突变中普遍存在(来源:J:311772)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6J x SJL/J)F1
Endonuclease-mediated
基因内删除
--
1
21
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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