| Primary Identifier | MGI:1861111 | Allele Type | Radiation induced |
| Gene | Nhs | Inheritance Mode | Semidominant |
| Strain of Origin | DBA/2 | Is Recombinase | false |
| Is Wild Type | false |
| description | The X-linked cataract mutation Xcat was found among offspring of an irradiated male in a dominant cataract mutation rate experiment. |
| molecularNote | A 487 kb insertion into the gene between exons 1 and 2 disrupts the expression of a transcript containing exon 1. The insertion appears to be a duplication and translocation of a more proximal region of chromosome X. A transcript is expressed from an alternate promoter of the gene and results in a protein product that lacks cytoplasmic localization signals and is transported to the nucleus. Total transcript levels are also reduced. |
