| Primary Identifier | MGI:6741516 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence, Null/knockout | Gene | Myt1l |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | 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. |
