Phenotypes associated with this allele

• Allele Symbol: Epas1^tm1.1Mcs
• Allele Name: targeted mutation 1.1, M Celeste Simon
• Allele ID: MGI:3710344
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Epas1^tm1.1Mcs/Epas1^tm1.1Mcs	involves: 129X1/SvJ * FVB/N	MGI:3710345
ht2	Epas1^tm1.1Mcs/Epas1^+	involves: 129X1/SvJ * C57BL/6 * CBA	MGI:6724165
cn3	Epas1^tm1Mcs/Epas1^tm1.1Mcs Tg(CAG-cre/Esr1*)5Amc/0	involves: 129X1/SvJ * C57BL/6 * CBA	MGI:6724166
cn4	Epas1^tm1Mcs/Epas1^tm1.1Mcs Ndor1^Tg(UBC-cre/ERT2)1Ejb/0	involves: 129X1/SvJ * FVB/N	MGI:3710346

Genotype
MGI:3710345

hm1

• Allelic Composition: Epas1^tm1.1Mcs/Epas1^tm1.1Mcs
• Genetic Background: involves: 129X1/SvJ * FVB/N

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

mortality/aging

prenatal lethality, complete penetrance ( J:119731 )

• no homozygous offspring are produced, but normal percentage is detected at E13.5 from Epas1^tm1Mcs /Epas1^tm1.1Mcs intercrosses

Genotype
MGI:6724165

ht2

• Allelic Composition: Epas1^tm1.1Mcs/Epas1⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * CBA

cardiovascular system

abnormal type I cell of carotid body physiology ( J:302384 )

• intermediately impaired responsiveness to hypoxia

homeostasis/metabolism

abnormal physiological response to hypoxia ( J:302384 )

• small decreased hypoxic ventilatory response in tamoxifen-treated mice exposed to hypoxic conditions despite normal hematocrit

nervous system

abnormal type I cell of carotid body physiology ( J:302384 )

• intermediately impaired responsiveness to hypoxia

Genotype
MGI:6724166

cn3

• Allelic Composition: Epas1^tm1Mcs/Epas1^tm1.1Mcs; Tg(CAG-cre/Esr1*)5Amc/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * CBA

cardiovascular system

cardiovascular system phenotype ( J:302384 )

N • tamoxifen-treated mice exhibit normal carotid body morphology

heart left ventricle hypertrophy ( J:302384 )

• likely secondary to anemia in tamoxifen-treated

abnormal type I cell of carotid body physiology ( J:302384 )

• impaired responsiveness to hypoxia with reduced secretory rate in tamoxifen-treated mice

• lower shifted quantal charge and reduced mean charge per event in tamoxifen-treated mice exposed to mild stimuli

• reduced increase in NADH and mitochondrial function induced by hypoxia in tamoxifen-treated mice

• however, tamoxifen-treated mice exhibit normal hypercapnia and depolarization with high extracellular potassium ion, and normal secretion induced by CO2 and high potassium ion

hematopoietic system

anemia ( J:302384 )

• in tamoxifen-treated mice

decreased hematocrit ( J:302384 )

• in tamoxifen-treated mice

homeostasis/metabolism

abnormal physiological response to hypoxia ( J:302384 )

• decreased hypoxic ventilatory response in tamoxifen-treated mice exposed to hypoxic conditions

• however, response to hypercapnia is normal and tamoxifen-treated mice exhibit a small transient hyperventilatory response at the onset of exposure to hypoxia

growth/size/body

heart left ventricle hypertrophy ( J:302384 )

• likely secondary to anemia in tamoxifen-treated

muscle

heart left ventricle hypertrophy ( J:302384 )

• likely secondary to anemia in tamoxifen-treated

nervous system

abnormal type I cell of carotid body physiology ( J:302384 )

• impaired responsiveness to hypoxia with reduced secretory rate in tamoxifen-treated mice

• lower shifted quantal charge and reduced mean charge per event in tamoxifen-treated mice exposed to mild stimuli

• reduced increase in NADH and mitochondrial function induced by hypoxia in tamoxifen-treated mice

• however, tamoxifen-treated mice exhibit normal hypercapnia and depolarization with high extracellular potassium ion, and normal secretion induced by CO2 and high potassium ion

Genotype
MGI:3710346

cn4

• Allelic Composition: Epas1^tm1Mcs/Epas1^tm1.1Mcs; Ndor1^{Tg(UBC-cre/ERT2)1Ejb}/0
• Genetic Background: involves: 129X1/SvJ * FVB/N

hematopoietic system

enlarged spleen ( J:119731 )

• spleens are enlarged relative to controls (0.5% spleen weight to body weight vs. ~0.4% in controls)

anemia ( J:119731 )

• occurs after postnatal cre induction

abnormal proerythroblast morphology ( J:119731 )

• erythroid progenitors from bone marrow form ~50% fewer erythroid burst-forming units (BFU-E) and colony-forming units (CFU-E) in culture than control cells, whereas erythroid progenitors from the spleen form more BFU-E and CFU-E

• there are fewer CD71+ immature erythroid progenitors in the bone marrow, and a higher percentage of CD71+ /Ter119+ double positive cells in the spleen

decreased erythrocyte cell number ( J:119731 )

• with acute deletion of Epas1 at 6-8 weeks induced by tamoxifen administration, animals have decreased red blood cell numbers relative to controls

decreased hematocrit ( J:119731 )

• with acute deletion of Epas1 at 6-8 weeks induced by tamoxifen administration, animals have decreased hematocrit relative to controls

decreased hemoglobin content ( J:119731 )

• with acute deletion of Epas1 at 6-8 weeks induced by tamoxifen administration, animals have decreased hemoglobin levels relative to controls

reticulocytopenia ( J:119731 )

• numbers are decreased compared to controls

abnormal hematopoietic system physiology ( J:119731 )

• mice show weak induction of erythropoietin after phenylhydrazine treatment

immune system

enlarged spleen ( J:119731 )

• spleens are enlarged relative to controls (0.5% spleen weight to body weight vs. ~0.4% in controls)

growth/size/body

enlarged spleen ( J:119731 )

• spleens are enlarged relative to controls (0.5% spleen weight to body weight vs. ~0.4% in controls)