| Primary Identifier | MGI:1857029 | Allele Type | Spontaneous |
| Gene | Rasa3 | Inheritance Mode | Recessive |
| Strain of Origin | BALB/cBy | Is Recombinase | false |
| Is Wild Type | false |
| description | Homozygous mutant mice are severely affected at birth, pale with intradermal petechiae and bruises and internal hemorrhaging. About 40% survive and enter a spontaneous remission period free from all overt signs of the disease (J:10670). At about 28 days of age a second crisis period occurs and most mutant mice are dead by 50 days of age. The disease is thought to be due to anti-platelet antibody. Splenectomy cures the mutant mice and the phenotype can be transferred by bone marrow or spleen hematopoietic cells (J:10670). The gene shows an unusual expression pattern; the phenotype is only expressed when homozygous mutant pups are carried in a mother carrying at least one wild-type (+) allele at the scat locus (J:14198). |
| molecularNote | A spontaneous mutation created a G-to-T transversion in exon 5 that results in the amino acid substitution of glycine with valine at position 125 (p.G125V). Western blot analysis confirmed normal expression levels but mislocalization to the cytocol in reticulocytes. |
