| Primary Identifier | MGI:6195494 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Tbc1d24 |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR-Cas9 technology generated a 2 base pair deletion (c.969_970delCT) in the alternatively-spliced micro-exon 4 (equivalent to micro-exon 3 in human) resulting in a substitution of threonine for serine at residue 324 followed by a translation frameshift resulting in a premature translation stop codon three codons downstream (S324Tfs*3). This is one of the pathogenic variants associated with early infantile epileptic encephalopathy. |
