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Phenotypes Associated with This Genotype
Genotype
MGI:3620526
Allelic
Composition
Epas1tm1Rus/Epas1tm1Rus
Genetic
Background
either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Epas1tm1Rus mutation (1 available); any Epas1 mutation (64 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
• starting at E12.5, homozygous mutant embryos are obtained at a progressively declining Mendelian frequency

cardiovascular system
• 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
• dead homozygotes exhibit congestion of blood in the liver
• dead homozygotes exhibit congestion of blood in the cardiac outflow tracts
• 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)

homeostasis/metabolism
• 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
• dead homozygotes exhibit congestion of blood in the liver


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory