Using a gRNA (GCTCTTGCTACACGTGCTACNGG) and ssODN templates (accagcagctatgcacctagcagcagcagcaacctcagctgtggtggtggcagGcagcgccTCCagTacgtgtagcaagagcagctttgactacacacatgacatggaggccgcacacatggcagcc) with CRISPR/Cas9 technology, an extra guanine was inserted at coding nucleotide position 2129 (NM_001093775.1:c.2129dup) in exon 15, resulting in an amino acid change and frameshift with a premature stop codon (p.(Ser710Argfs*5)). This mutation is similar to that seen in a patient with Autism Spectrum Disorder (ASD). Additional mutations that affect the new reading frame (but not the original) were created to prevent homozygous mutation. Immunofluorescence analysis of neocortices from E14 homozygous mice indicated the absence of protein expression. Protein expression in heterozygous mice is reduced by 25% and no truncated protein expression is detected. (J:101977, J:321206)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
Insertion, Nucleotide substitutions
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1
1
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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