Phenotypes associated with this allele

• Allele Symbol: Rpl11^tm1.1Srn
• Allele Name: targeted mutation 1.1, Manuel Serrano
• Allele ID: MGI:6510292
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ndor1^Tg(UBC-cre/ERT2)1Ejb/Ndor1^+ Rpl11^tm1.1Srn/Rpl11^tm1.1Srn	involves: 129S6/SvEvTac * C57BL/6NCrl * CD-1	MGI:6510297
cn2	Ndor1^Tg(UBC-cre/ERT2)1Ejb/Ndor1^+ Rpl11^tm1.1Srn/Rpl11^+	involves: 129S6/SvEvTac * C57BL/6NCrl * CD-1	MGI:6510523
cn3	Rpl11^tm1.1Srn/Rpl11^+ Tg(CAG-cre)13Miya/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrl	MGI:6510535

Genotype
MGI:6510297

cn1

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

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

mortality/aging

premature death ( J:292575 )

• mice treated with tamoxifen starting at 1.5 months of age show lethality, with no mice surviving beyond 8 weeks of tamoxifen treatment

digestive/alimentary system

abnormal intestine morphology ( J:292575 )

• tamoxifen-treated mice show intestinal atrophy

hematopoietic system

anemia ( J:292575 )

• at time of death, tamoxifen-treated mice show signs of developing anemia, including a pronounced decrease in bone marrow erythroblasts and an accumulation of hemosiderin in the spleen and iron in the liver

abnormal bone marrow cell morphology/development ( J:292575 )

• tamoxifen-treated mice show bone marrow aplasia

decreased erythroblast number ( J:292575 )

• tamoxifen-treated mice show a decrease in bone marrow erythroblasts at time of death

homeostasis/metabolism

increased liver iron level ( J:292575 )

• tamoxifen-treated mice show an accumulation of iron in the liver at time of death

liver/biliary system

increased liver iron level ( J:292575 )

• tamoxifen-treated mice show an accumulation of iron in the liver at time of death

Genotype
MGI:6510523

cn2

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

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

Genotype
MGI:6510535

cn3

• Allelic Composition: Rpl11^tm1.1Srn/Rpl11⁺; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrl

mortality/aging

prenatal lethality, complete penetrance ( J:292575 )

• no heterozygous pups are obtained indicating prenatal lethality