| Primary Identifier | MGI:7574169 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Slc1a4 |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology generated a G to A change at position 978 (c.978G>A) resulting in a glutamate to lysine substitution at amino acid 256 (p.E256K). This corresponds to a disease-associated mutation seen in patients with the rare autosomal recessive neurodevelopmental disorder spastic tetraplegia, thin corpus callosum, and progressive microcephaly. |
