Arginine codon 1684 (CGT) was changed to histidine (CAT) (c.5051G>A, p.R1684H) using an sgRNA (targeting CCCACCGTTCTGGGAGCTACCGC) and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human c.5054G>A p.R1684H mutation associated with autism. (J:334099)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Applicable
Endonuclease-mediated
Single point
--
1
7
1

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

References Literature

Title
PMID
Journal
Year
IF
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