CRISPR对exon 37的靶向编辑会导致一个插入/缺失突变,产生类似人类2608位点的框架移位(R2608fs),进而影响exon 37的框架。这个等位基因无法产生440千道尔顿的同工酶,但表达出一个290千道尔顿的截短多肽,并维持正常水平的220千道尔顿同工酶。(引用:J:277752)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
插入,基因内删除
--
1
3
3

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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