在exon 5的第187位,苯丙氨酸的密码子(TTT)被替换成了甘氨酸(GGC),这导致了一个名为p.F187G的突变。通过sgRNA(靶向ACTCCTGATGGATGCGCTTA)和ssODN模板,应用了CRISPR/Cas9技术。这个改变使得编码的肽失去催化活性,不再具备RNA甲基化功能。(引用:J:314427)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6J x DBA/2J)F1/J
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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