在exon 28的第1375位,色氨酸的密码子(TGG)被替换成了异亮氨酸(GCA),这导致了p.W1375A的变异。通过sgRNA和ssODN模板,使用了CRISPR/Cas9技术。这种变异削弱了YTH域对m6A的结合能力(来源:J:328765)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6 x DBA/2)F1
Endonuclease-mediated
核苷酸替换
--
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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