All Phenotypes Crebbp<tm1Dli> MGI Mouse

growth/size/body

decreased body weight ( J:191503 )

postnatal growth retardation ( J:60630 )

enlarged spleen ( J:60630 , J:191503 )

• 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)

craniofacial

abnormal craniofacial morphology ( J:60630 )

• craniofacial abnormalities

neoplasm

increased hemolymphoid system tumor incidence ( J:60630 )

• hematologic neoplasia in animals 1 year or older, which include histiocytic sarcomas, a tumor of hematopoietic origin, and myelogenous and lymphocytic leukemias

increased leukemia incidence ( J:60630 )

• myelogenous and lymphocytic leukemias

increased histiocytic sarcoma incidence ( J:60630 )

hematopoietic system

enlarged spleen ( J:60630 , J:191503 )

• 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)

abnormal definitive hematopoiesis ( J:60630 , J:191503 )

• 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)

abnormal common myeloid progenitor cell morphology ( J:191503 )

• 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

decreased common myeloid progenitor cell number ( J:60630 , J:191503 )

• 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)

extramedullary hematopoiesis ( J:60630 )

• in mice with splenomegaly

increased bone marrow cell number ( J:191503 )

• bone marrow is more cellular than in wild type mice when corrected for body weight at 3-4 and 9-12 months of age

abnormal megakaryocyte morphology ( J:191503 )

• 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

increased megakaryocyte cell number ( J:191503 )

decreased hematopoietic stem cell number ( J:191503 )

• approximate 2-fold fewer long-term hematopoietic stem cells per femur at 9-12 months of age

abnormal leukocyte morphology ( J:191503 )

• 22% of 9-12 month old mutants show leukocytes with a pseudo Pelger-Huet anomaly

abnormal granulocyte morphology ( J:191503 )

• 55% of 9-12 month old mutants show hypersegemented granulocytes

increased granulocyte number ( J:191503 )

• at 9-12 months of age

decreased lymphocyte cell number ( J:191503 )

• lymphoid cell compartment is smaller at 9-12 months of age

• however, leukocyte, erythrocyte and platelet numbers are normal

decreased B cell number ( J:60630 )

• in mice with splenomegaly

absent pre-B cells ( J:60630 )

• in mice with splenomegaly

immune system

enlarged spleen ( J:60630 , J:191503 )

• 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)

abnormal leukocyte morphology ( J:191503 )

• 22% of 9-12 month old mutants show leukocytes with a pseudo Pelger-Huet anomaly

abnormal granulocyte morphology ( J:191503 )

• 55% of 9-12 month old mutants show hypersegemented granulocytes

increased granulocyte number ( J:191503 )

• at 9-12 months of age

decreased lymphocyte cell number ( J:191503 )

• lymphoid cell compartment is smaller at 9-12 months of age

• however, leukocyte, erythrocyte and platelet numbers are normal

decreased B cell number ( J:60630 )

• in mice with splenomegaly

absent pre-B cells ( J:60630 )

• in mice with splenomegaly

cellular

increased cellular sensitivity to gamma-irradiation ( J:191503 )

• 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

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

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Contributing Projects: 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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