在基因ENSMUST00000106609的第7外显子(AGT)或ENSMUST00000029483的第8外显子,丝氨酸(AGT)被替换成了arginine(CGT),这通过sgRNA(靶向序列:TGGATTGGACTGGAAGTCTCTGG)和CRISPR/Cas9技术用ssODN模板实现。这个突变等同于已知在ALS患者中发现的人类变异(p.S263R)。参考文献:J:338078

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
单点
--
1
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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