Rasa3^scat
Spontaneous Allele Detail

Summary

• Symbol: Rasa3^scat
• Name: RAS p21 protein activator 3; severe combined anemia and thrombocytopenia
• MGI ID: MGI:1857029
• Gene: Rasa3 Location: Chr8:13617218-13727590 bp, - strand Genetic Position: Chr8, 6.29 cM
• Alliance: Rasa3^scat page

Mutation origin

• Strain of Origin: BALB/cBy

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: 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. (J:186485)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Rasa3 Mutation: 62 strains or lines available

Notes

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).

References

• Original: J:10670 Peters LL, et al., Heritable severe combined anemia and thrombocytopenia in the mouse: description of the disease and successful therapy. Blood. 1990 Aug 15;76(4):745-54
• All: 8 reference(s)