| Primary Identifier | MGI:3612274 | Allele Type | Chemically induced (ENU) |
| Gene | Rxra | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| description | The hypomorphic mutant protein retains only 10% of the activity of the wild-type protein in both the retinoic acid and vitamin D signaling pathways, as measured in HEK293 cells harboring a luciferase reporter gene under control of either the retinoic acid responsive element (RARE) or the vitamin D responsive element (VDRE). Real-time PCR shows the mutant mRNA is expressed in homozygous mutant mice at approximately twice the normal rate. J:103186 |
| molecularNote | This mutation, originally identified in an ENU mutagenesis screen by its visible phenotype, is due to an A-to-T transversion in exon 6 resulting in substitution of asparagine for isoleucine at amino acid position 273 of the protein (I273N), which alters the ligand binding and heterodimerization domain. |
