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Valine codon 66 (GTG) wast targeted for change to a methionine codon (ATG)(c.196G>A, p.V66M) with an sgRNA and an ssODN template (GAGCTGCTGGAGCAAATATTTTTCTGACAGCCCTTTTCTTTGCAGGTGACACTTGAGAAGATGCTTGGCATCACAGCCCAGAACAGCAGCGGGCTAACCTGTGACCCTGGCACAGGCCATG) using CRISPR/Cas9 technology. The mutation mimics the p.V65M mutation found in some patients presenting with microcephaly or cortical malformations. (J:285212)
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
