Phenotypes Associated with This Genotype

Genotype
MGI:6510523

• Allelic Composition: Ndor1^{Tg(UBC-cre/ERT2)1Ejb}/Ndor1⁺; Rpl11^tm1.1Srn/Rpl11⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCrl * CD-1

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

hematopoietic system

abnormal erythropoiesis ( J:292575 )

• tamoxifen-treated mice show defective erythropoiesis, with bone marrow showing an increase in the percentage of primitive progenitors and proerythroblasts (RI cells) and a decrease in the more matured stages (RIII, RIV, and RV cells)

• fetal livers from tamoxifen-treated pregnant mothers show an increase in the percentage of primitive progenitors and proerythroblasts (RI cells) and a decrease in the more matured stages (RIII, RIV, and RV cells)

• bone marrow of transplanted SCID mice show an increase in the percentage of primitive progenitors and proerythroblasts (RI cells) and a decrease in the more matured stages (RIII, RIV, and RV)

• fetal liver erythroid progenitors from tamoxifen-treated pregnant mothers show lower proliferation (increase in cells in G1 and a tendency of decrease in cells in S phase)

anemia ( J:292575 )

• tamoxifen-treated mice develop anemia

• mice irradiated with a single dose of gamma-radiation and treated with tamoxifen 1 week later develop anemia

abnormal proerythroblast morphology ( J:292575 )

• bone marrow of tamoxifen-treated mice shows an increase in the percentage of primitive progenitors and proerythroblasts (RI cells)

• bone marrow of transplanted SCID mice show an increase in the percentage of primitive progenitors and proerythroblasts (RI cells)

decreased erythroblast number ( J:292575 )

• bone marrow shows a decrease in the number of erythroblasts in tamoxifen-treated mice

• mutant bone marrow transplanted SCID mice show a severe decrease in erythroblasts

• however, the bone marrow is histologically normocellular and has normal ratios of hematopoietic stem cells and progenitor cells

decreased erythrocyte cell number ( J:292575 )

• mice fed a tamoxifen diet starting at 1.5-2 months of age exhibit lower red blood cell levels which becomes more pronounced with age

• mutant bone marrow transplanted SCID mice show reduced red blood cell levels over time

decreased hemoglobin content ( J:292575 )

• mutant bone marrow transplanted SCID mice show decreased hemoglobin levels over time

macrocytosis ( J:292575 )

• tamoxifen-treated mice exhibit macrocytosis which becomes more pronounced with age

homeostasis/metabolism

increased mortality induced by gamma-irradiation ( J:292575 )

• gamma-irradiated mice treated with tamoxifen die earlier than controls

mortality/aging

increased mortality induced by gamma-irradiation ( J:292575 )

• gamma-irradiated mice treated with tamoxifen die earlier than controls

neoplasm

increased incidence of tumors by ionizing radiation induction ( J:292575 )

• gamma-irradiated mice treated with tamoxifen develop lymphomas, particularly in the thymus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Diamond-Blackfan anemia 7		DOID:0111878	OMIM:612562	J:292575