CRISPR/Cas9技术通过sgRNAs(针对TATGTCTCTATGCAGATGCA和ACACTGACAGCCAGCTCTTT)和ssODN模板,成功在exon 5中实现了TACTAC到TTCTTC的变异,导致了酪氨酸( Tyr)变为苯丙氨酸( Phe)的替换,位置是137和138(等位基因p.Y112_Y113delinsFF)。此外,还插入了一个额外的T,形成了一个移码和早停密码子(p.Gly145Leufs*18)。参考文献:J:303558

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6J x CBA/J)F2
Endonuclease-mediated
Insertion, Nucleotide substitutions
--
1
--
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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