Log In|Sign Up
EN
CRISPR/cas9 endonuclease-mediated genome editing was used to create an amino acid substitution at position 148 (aspartic acid to asparagine, D148N). Loss of function mutations in malin, such as D146N (corresponding to mouse D148N), are associated with Lafora disease, a rare and severe form of progressive myoclonus epilepsy. (J:101977)
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
