Log In|Sign Up
中文
CRISPR/cas9基因编辑技术用于在第240位（arginine替换为终止密码子，R240X）创建氨基酸替换。laforin中丧失功能的突变，如R241X（对应于小鼠的R240X），与Lafora病关联，这是一种罕见且进展性肌阵挛性癫痫。来源：(J:335247)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
