Phenotypes associated with this allele

• Allele Symbol: Epas1^tm1Rus
• Allele Name: targeted mutation 1, David W Russell
• Allele ID: MGI:1861921
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Epas1^tm1Rus/Epas1^tm1Rus	either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6)	MGI:3620526

Genotype
MGI:3620526

hm1

• Allelic Composition: Epas1^tm1Rus/Epas1^tm1Rus
• Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:50964 )

• no homozygotes are obtained by E16.5; embryos surviving between E12.5 and E15.5 appear grossly normal with no overt morphological defects

• administration of catecholamine precursor DOPS to pregnant females prevents midgestational lethality in ~40% of mutant embryos, whereas L-DOPA fails to do so

• rescued pups are carried to term, but appear runted, fail to suckle, and die within 24 hr after birth

embryonic lethality during organogenesis, incomplete penetrance ( J:50964 )

• starting at E12.5, homozygous mutant embryos are obtained at a progressively declining Mendelian frequency

cardiovascular system

visceral vascular congestion ( J:50964 )

• dead homozygotes exhibit congestion of blood in the liver and cardiac outflow tracts

• however, no morphological defects are noted in the heart, liver, or placenta at E11.5 or E15.5

liver vascular congestion ( J:50964 )

• dead homozygotes exhibit congestion of blood in the liver

heart vascular congestion ( J:50964 )

• dead homozygotes exhibit congestion of blood in the cardiac outflow tracts

decreased heart rate ( J:50964 )

• at E12.5, homozygotes exhibit significant bradycardia (average heart rate 26.9 +/- 8.0 beats per minute) relative to wild-type embryos (36.0 +/- 6.6 beats per minute)

congestive heart failure ( J:50964 )

homeostasis/metabolism

decreased circulating noradrenaline level ( J:50964 )

• at E12.5, homozygotes exhibit significantly reduced noradrenaline levels (3.21 +/- 0.76 ng/mg protein) relative to wild-type embryos (5.42 +/- 2.15 ng/mg protein)

liver/biliary system

liver vascular congestion ( J:50964 )

• dead homozygotes exhibit congestion of blood in the liver