| Primary Identifier | MGI:7571247 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Slc38a8 |
| Strain of Origin | (C57BL/6 x CBA)F2 | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology using sgRNA 5â-CAATACTACCTGTGGCCCC-3â generated a stop codon at proline 196 (p.196Pro*) in exon 4, which is equivalent to human p.199Pro*. This mutation closely resembles one of the first familial mutations reported in oveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis (FHONDA syndrome) patients that have a p.Gln200* mutation. |
