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CRISPR/cas9 endonuclease-mediated genome editing is used to create an amino acid substitution at position 240 (arginine to termination codon, R240X). Loss of function mutations in laforin, such as R241X (corresponding to mouse R240X), are associated with Lafora disease, a rare and severe form of progressive myoclonus epilepsy. (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：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
