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CRISPR/Cas9 technology generated an CT to GC change resulting in a threonine to serine substitution at amino acid 186 (p.T186S) in exon 6. Additional silent mutations were introduced to suppress further Cas9 cleavage activity. This variant is a modifier of disease risk in frontotemporal lobar degeneration patients with progranulin mutations and is a protective allele. (J:336032)
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
