Analysis Tools
mortality/aging
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• die by E10.5
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nervous system
embryo
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Allele Symbol Allele Name Allele ID |
Crebbptm1Dli targeted mutation 1, David Livingston MGI:1926888 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die by E10.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• severe splenomegaly in 73% of 12-18 month old mice but not in young mice
(J:60630)
• spleen contains an excess of myeloid and erythroid cells
(J:60630)
• mild but significant splenomegaly in 3-4 and 9-12 month old mutants
(J:191503)
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• craniofacial abnormalities
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• hematologic neoplasia in animals 1 year or older, which include histiocytic sarcomas, a tumor of hematopoietic origin, and myelogenous and lymphocytic leukemias
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• myelogenous and lymphocytic leukemias
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• severe splenomegaly in 73% of 12-18 month old mice but not in young mice
(J:60630)
• spleen contains an excess of myeloid and erythroid cells
(J:60630)
• mild but significant splenomegaly in 3-4 and 9-12 month old mutants
(J:191503)
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• abundance of all hematopoietic cells types is significantly diminished in mice with splenomegaly
(J:60630)
• increase in myeloid cells in mice with splenomegaly
(J:60630)
• 2 of 14 mice at 3-4 months of age have small clusters of immature cells in the center of the marrow space, indicative of very early stages of myelodysplastic hematopoiesis
(J:191503)
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• mutants show an increase in Annexin V+ cells in the lineage-depleted (Lin-) fraction of the marrow enriched for stem and progenitor cells, indicating an increase in apoptosis in marrow progenitors
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• in mice with splenomegaly
(J:60630)
• mutants have fewer total colony-forming cells in the marrow than wild-type mice, most notably the granulocytic and monocytic colony-forming cells
(J:191503)
• 9-12 month old mutants show a decrease in common myeloid progenitors
(J:191503)
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• in mice with splenomegaly
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• bone marrow is more cellular than in wild type mice when corrected for body weight at 3-4 and 9-12 months of age
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• more than 50% of 9-12 month old mutants exhibit either increased numbers of megakaryocytes or abnormal forms such as hyperlobulated cells or naked nuclei
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• approximate 2-fold fewer long-term hematopoietic stem cells per femur at 9-12 months of age
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• 22% of 9-12 month old mutants show leukocytes with a pseudo Pelger-Huet anomaly
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• 55% of 9-12 month old mutants show hypersegemented granulocytes
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• at 9-12 months of age
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• lymphoid cell compartment is smaller at 9-12 months of age
• however, leukocyte, erythrocyte and platelet numbers are normal
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• in mice with splenomegaly
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• in mice with splenomegaly
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• severe splenomegaly in 73% of 12-18 month old mice but not in young mice
(J:60630)
• spleen contains an excess of myeloid and erythroid cells
(J:60630)
• mild but significant splenomegaly in 3-4 and 9-12 month old mutants
(J:191503)
|
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• 22% of 9-12 month old mutants show leukocytes with a pseudo Pelger-Huet anomaly
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• 55% of 9-12 month old mutants show hypersegemented granulocytes
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• at 9-12 months of age
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• lymphoid cell compartment is smaller at 9-12 months of age
• however, leukocyte, erythrocyte and platelet numbers are normal
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• in mice with splenomegaly
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• in mice with splenomegaly
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• mutants treated with a 10-Gy split-dose total body irradiation die before wild-type mice do and none survive compared to 1/3 of wild-type mice that survive, indicating increased hypersensitivity to ionizing radiation
• a lower percentage of mutants treated with a split-dose of 11 Gy total body irradiation followed by a bone marrow graft survive compared to wild-type mice treated in the same way
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| acute myeloid leukemia | DOID:9119 |
OMIM:601626 |
J:60630 | |
| myelodysplastic syndrome | DOID:0050908 |
OMIM:614286 |
J:191503 | |
| Rubinstein-Taybi syndrome | DOID:1933 |
OMIM:180849 OMIM:610543 OMIM:613684 |
J:60630 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• unexpectedly, compound heterozygotes die in utero
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• compound heterozygotes are smaller than control embryos
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• compound heterozygotes exhibit a severe open neural tube defect similar to that observed in Ep300tm1Dli or Crebbptm1Dli homozygous mutants
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• compound heterozygotes are smaller than control embryos
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• compound heterozygotes exhibit a severe open neural tube defect similar to that observed in Ep300tm1Dli or Crebbptm1Dli homozygous mutants
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• compound heterozygotes exhibit extensive exencephaly
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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 04/30/2024 MGI 6.23 |
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