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Allele Symbol Allele Name Allele ID |
Rasa3scat severe combined anemia and thrombocytopenia MGI:1857029 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Background Sensitivity: While some homozygotes survive on the BALB/cBy background, all homozygotes generated on this C57BL/6J congenic background die in utero with severe bleeding and strikingly pale fetal livers at E12.5-E14.4
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 90% of homozygous mice die by 50 days; the mean survival time is 22 days
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• 15% homozygotes are born from heterozgyous intercrosses rather than the expected 25%
(J:14198)
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• 61.2% of mutant mice die by 25 days of age
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• delayed but not blocked with a decrease in hemoglobinization
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• as crisis becomes more severe
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• disorganized demarcation membrane system, hypersegmented nuclei and excess rough endoplasmic reticulum during crisis
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• immature megakaryocytes during crisis
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• CD3e+, CD4+ and CD8+ T cells
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• deep red to purple in color
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• at crisis
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• seen at birth
• 22% of mutant mice develop intracranial bleeding
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• immature megakaryocytes during crisis
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• intercross of surviving homozygotes in the remission stage produced 0 of 18 pups with the mutant phenotype. Pups from homozygous splenectomized females bred to heterozgyous males do not display the mutant phenotype, but 17 of 163 offspring from those pups do, and splenectomized heterozygous females bred to heterozygous males do generate phenotypically mutant offspring at the same ratio as non-splenectomized female heterozygotes. only 3 of 53 pups born to splenectomized homozygous females bred to splenectomized homozygous males display the mutant phenotype, and this lack of phenotype persists in subsequent F2 and F3 generations. However, transplanted hosts of homozygous ovaries bred to heterozgyous males gave 13 affected pups out of 35 indicating that a wild type allele is essential in the mother in order to transmit the mutant phenotype.
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• CD3e+, CD4+ and CD8+ T cells
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• deep red to purple in color
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• at crisis
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• mutant females that survive to sexual maturity will conceive but do not survive pregnancy
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• diminished progression out of G0/G1 into S or G2 at the basophilic and polychromatophilic stages of erythroid development
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• decreased apoptosis is found in the proerythroblastic, polychromatic, and orthochromatic stages of erythroid development in both spleen and bone marrow
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• increased ROS at the proerythroblastic stage assessed in splenocytes, and a trend for increased ROS levels throughout erythroid differentiation and in peripheral reticulocytes
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• as a percentage of body weight the splenic weight in homozygotes between 3-5 weeks of age is more than 4 times that of controls
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• as a percentage of body weight the splenic weight in homozygotes between 3-5 weeks of age is more than 4 times that of controls
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• between 3 to 5 weeks of age, 2800 (+/- 1800)/uL in homozygotes versus 4900 (+/-1200)/uL in controls
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• as a percentage of body weight the splenic weight in homozygotes between 3-5 weeks of age is more than 4 times that of controls
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• between 3 to 5 weeks of age, 3.8 (+/-1.1) x 106 in homozygotes versus 8.8 (+/-0.7) x 106 in controls
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• between 3 to 5 weeks of age, 22.2 (+/-6.9)% in homozygotes versus 41.6 (+/-3.2)% in controls
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• between 3 to 5 weeks of age, 3.3 (+/- .04) g/dL in homozygotes versus 2.3 (+/- 0.2) g/dL in controls
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• between 3 to 5 weeks of age, 5.8 (+/-1.9) g/dL in homozygotes versus 13.9 (+/-1.2) g/dL in controls
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• between 3 to 5 weeks of age, 25.7 (+/-4.2) g/dL in homozygotes versus 33.5 (+/-1.5) g/dL in controls
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• between 3 to 5 weeks of age, 57.8 (+/-4.3)fL in homozygotes versus 47.4 (+/-1.3)% in controls
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• between 3 to 5 weeks of age, 28.0 (+/- 6) % in homozygotes versus 19.7 (+/-2.2) % in controls
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• between 3 to 5 weeks of age 103000 (+/- 106000) platelets per uL in homozygotes versus 595000 (+/- 281000) per uL in controls
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• between 3 to 5 weeks of age, 8.9 (+/-1.3) fL in homozygotes versus 5.2 (+/-.03) fL in controls
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• between 3 to 5 weeks of age, 2800 (+/- 1800)/uL in homozygotes versus 4900 (+/-1200)/uL in controls
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• between 3 to 5 weeks of age, 45.1 (+/-12) % in homozygotes versus 9.5 (+/- 3.6) % in controls
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| aplastic anemia | DOID:12449 |
OMIM:609135 |
J:281271 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• maternal anti-platelet antibody is detected in late pregnancy heterozgyotes, which reacts to a 110 kDa platelet protein from wildtype BALB mice, but this antibody is not essential for pathology since the absence of B and T cells does not prevent the scat phenotype
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit the same phenotype as Rasa3scat homozygotes
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• mice exhibit the same phenotype as Rasa3scat homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit the same phenotype as Rasa3scat homozygotes
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• mice exhibit the same phenotype as Rasa3scat homozygotes
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 06/12/2024 MGI 6.13 |
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