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Using CRISPR/Cas9 technology with sgRNA and ssODN donor template, a c.991C>A mutation was created that results in the amino acid substitution of glutamine with lysine at position 331 (p.Q331K). This mutation mimics the same mutation in human amyotrophic lateral sclerosis (ALS) patients. The mutation is located in the low complexity domain (LCD) of the encoded peptide. (J:265666)
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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References Literature
Title
PMID
Journal
Year
IF
