CRISPR精准编辑产生的突变导致第921位的脯氨酸被替换为亮氨酸(P921L),这在人类中与有中线脑缺陷的患者类似位置的P913L氨基酸替换是等效的。(来源:J:296537)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB/NJ
Endonuclease-mediated
单点
--
1
3
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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