使用sgRNAs针对序列`GTTCAGTGTACTTCAGTTGGNGG`和`TTCAGTGTACTTCAGTTGGTNGG`,以及SSODN模板`GGCCAGGTCCCGGTGCACGTAGTTCATGTTGGCCAGGTACTTCATGCCGGATGCGATACCCTGCAGCATGCCCACTAGCTGAAGTACACTGAACTCACCATCCTTCTCCTGCAGAGATAGGCCCTCAGTGCTGACCGG`,通过CRISPR/Cas9技术,第13外显子的arginine(AGG)位置被替换为glutamine(CAG),产生了p.R722Q的变异。这种人类等位变异p.R721Q与年龄相关性皮质性白内障有关(文献来源:J:312486)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Applicable
Endonuclease-mediated
核苷酸替换
--
1
7
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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