Phenotypes associated with this allele

• Allele Symbol: Epor^tm1Lizon
• Allele Name: targeted mutation 1, Leonard I Zon
• Allele ID: MGI:1861922
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Epor^tm1Lizon/Epor^tm1Lizon	involves: 129S4/SvJae * C57BL/6	MGI:2673820
cx2	Epor^tm1Lizon/Epor^tm1Lizon Tg(Gata1-Epor)AMym/0	involves: 129S4/SvJae * C57BL/6 * DBA	MGI:3835194

Genotype
MGI:2673820

hm1

• Allelic Composition: Epor^tm1Lizon/Epor^tm1Lizon
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:35594 )

• mice die of anemia between E11.5 and E13

hematopoietic system

hematopoietic system phenotype ( J:35594 )

N • despite disruption of hematopoiesis, nonerythroid progenitors are present in normal numbers, and megakaryocytes, mast cells, macrophages, and granulocytes develop normally

anemia ( J:35594 )

• mice die of anemia between E11.5 and E13

impaired hematopoiesis ( J:35594 )

• while proerythroblasts appear normal only primitive hematopoiesis occurs with no hemoglobinized normoblasts or enucleated red blood cells present unlike in wild-type mice

absent erythroid progenitor cell ( J:35594 )

• no CFU-E or BFU-E colonies form from fetal liver or yolk sac cells cultured with Kitl, Epo, Thpo or Kitl/Epo

• however, BFU-Es form when fetal liver or yolk sac cells are cultured with Kitl/Thpo or IL3/IL11/Thpo

decreased erythrocyte cell number ( J:35594 )

• at E10 to E11.5

liver/biliary system

increased hepatocyte apoptosis ( J:35594 )

small liver ( J:35594 )

• fetal liver is small

liver hypoplasia ( J:35594 )

pale liver ( J:35594 )

• fetal liver is pale

embryo

pale yolk sac ( J:35594 )

• at E10 to E11.5, embryos and yolk sac are pale due to a decrease in size and number of blood island compared to in wild-type mice

nervous system

nervous system phenotype ( J:35594 )

N • despite endogenous expression in the brain, no gross morphological abnormalities are reported in the brain

cellular

increased hepatocyte apoptosis ( J:35594 )

Genotype
MGI:3835194

cx2

• Allelic Composition: Epor^tm1Lizon/Epor^tm1Lizon; Tg(Gata1-Epor)AMym/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:121500 )

• survival is significantly impaired under chronic hypoxia conditions compared to similarly treated wild-type mice

• however, under normoxic conditions mice exhibit normal survival unlike in Epor^tm1Liz homozygotes

cardiovascular system

abnormal lung vasculature morphology ( J:121500 )

• under hypoxic conditions, muscularization of pulmonary small-vessels is accelerated compared to in similarly treated wild-type mice

abnormal physiological neovascularization ( J:82257 )

• in a model of retinopathy of prematurity (ROP), mutants exhibit fewer numbers of vascular tubes that reach into the inner nuclear layer at P17, indicating reduced neovascularization in the retina after hypoxic conditions

abnormal vascular endothelial cell migration ( J:121500 )

• under hypoxic conditions, mobilization of endothelial precursor cells is impaired and fewer CD31+ cells migrate to the pulmonary endothelium than in similarly treated wild-type mice

heart right ventricle hypertrophy ( J:121500 )

• accelerated under hypoxic conditions

abnormal heart right ventricle pressure ( J:121500 )

• under hypoxic conditions, right ventricle systolic pressure is increased compared to in similarly treated wild-type mice

pulmonary hypertension ( J:121500 )

• development of pulmonary hypertension is accelerated under hypoxic conditions as measured by right ventricle systolic pressure and right ventricle hypertrophy compared to in wild-type mice

• however, irradiated mice transplanted with wild-type bone marrow exhibit a partial rescue in the development of pulmonary hypertension

respiratory system

abnormal lung vasculature morphology ( J:121500 )

• under hypoxic conditions, muscularization of pulmonary small-vessels is accelerated compared to in similarly treated wild-type mice

homeostasis/metabolism

abnormal response to injury ( J:121500 )

• survival is significantly impaired under chronic hypoxia conditions compared to similarly treated wild-type mice

• under hypoxic conditions, right ventricle systolic pressure is increased and right ventricle hypertrophy is accelerated compared to in similarly treated wild-type mice

• under hypoxic conditions, muscularization of pulmonary small-vessels is accelerated compared to in similarly treated wild-type mice

• under hypoxic conditions, mobilization of endothelial precursor cells is impaired and fewer CD31+ cells migrate to the pulmonary endothelium than in similarly treated wild-type mice

cellular

abnormal vascular endothelial cell migration ( J:121500 )

• under hypoxic conditions, mobilization of endothelial precursor cells is impaired and fewer CD31+ cells migrate to the pulmonary endothelium than in similarly treated wild-type mice

growth/size/body

heart right ventricle hypertrophy ( J:121500 )

• accelerated under hypoxic conditions

muscle

heart right ventricle hypertrophy ( J:121500 )

• accelerated under hypoxic conditions