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Glycine codon 367 (GGG) in exon 10 was changed to arginine (AGG) (c.1099G>A, p.G367R) using an sgRNA (targeting TAATACGACTCACTATAGGG) and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human c.1117G>A (p.G373R) mutation associated with megalencephaly polymicrogyria polydactyly hydrocephalus (MPPH) syndrome. (J:304006)
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
