CRISPR/Cas9技术产生了一个位于2173位的C到T变异,导致了氨基酸725(R725)的arginine变为X(R725X)。这种变异与在视网膜发育异常(cryptophthalmos)患者中观察到的R736X(c.2206C>T)变异相匹配。(来源:J:279933)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Endonuclease-mediated
单点
--
1
7
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
No Data Found!
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