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Phenotypes Associated with This Genotype
Genotype
MGI:2663596
Allelic
Composition
Epas1tm1Pec/Epas1tm1Pec
Genetic
Background
involves: 129/Sv * Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Epas1tm1Pec mutation (0 available); any Epas1 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• newborn homozygotes die within 2-3 hours of life due to severe respiratory failure (J:77480)
• newborn homozygotes die within 2-3 hours of life due to severe respiratory failure (J:77480)
• homozygous mutants surviving embryogenesis die at birth (J:83549)
• homozygous mutants surviving embryogenesis die at birth (J:83549)
• at E13.5, half of mutant embryos die of cardiac failure (J:77480)
• at E13.5, half of mutant embryos die of cardiac failure (J:77480)
• half of homozygous mutant embryos die during gestation (J:83549)
• half of homozygous mutant embryos die during gestation (J:83549)

homeostasis/metabolism
• newborn homozygotes display cyanosis (J:77480)
• newborn homozygotes display cyanosis (J:77480)

respiratory system
• at E18.5, a small deficit in vascularization of saccular septa is observed, as determined by the number of vessels/sacculus (J:77480)
• unlike in newborn wild-type mice where capillaries are juxtaposed to the lumen in ~95% of terminal sacs, mutant capillaries lay more distant from the lumen in ~30% of terminal sacs (J:77480)
• however, basement membrane formation of microvessels in the septa is normal and branching of large pulmonary vessels is unaffected (J:77480)
• at E18.5, a small deficit in vascularization of saccular septa is observed, as determined by the number of vessels/sacculus (J:77480)
• unlike in newborn wild-type mice where capillaries are juxtaposed to the lumen in ~95% of terminal sacs, mutant capillaries lay more distant from the lumen in ~30% of terminal sacs (J:77480)
• however, basement membrane formation of microvessels in the septa is normal and branching of large pulmonary vessels is unaffected (J:77480)
• at birth, thinning of the alveolar septa is impaired due to defective epithelial differentiation (J:77480)
• unlike in wild-type lungs, immature PAS+ (glycogen-rich) epithelial cells fail to progressively disappear after E18.5 (J:77480)
• at >E16.5, pulmonary VEGF protein levels increased by ~4-fold in wild-type fetuses, but only minimally in mutant fetuses (J:77480)
• in mutant neonates, pulmonary VEGF transcript levels are reduced by ~30% in type II pneumocytes (J:77480)
• at birth, thinning of the alveolar septa is impaired due to defective epithelial differentiation (J:77480)
• unlike in wild-type lungs, immature PAS+ (glycogen-rich) epithelial cells fail to progressively disappear after E18.5 (J:77480)
• at >E16.5, pulmonary VEGF protein levels increased by ~4-fold in wild-type fetuses, but only minimally in mutant fetuses (J:77480)
• in mutant neonates, pulmonary VEGF transcript levels are reduced by ~30% in type II pneumocytes (J:77480)
• epithelial cell differentiation is impaired; abundant immature PAS+ (glycogen-rich) epithelial cells are shown to persist after E18.5, unlike in wild-type lungs (J:77480)
• however, no differences in epithelial cell proliferation or apoptosis are observed (J:77480)
• epithelial cell differentiation is impaired; abundant immature PAS+ (glycogen-rich) epithelial cells are shown to persist after E18.5, unlike in wild-type lungs (J:77480)
• however, no differences in epithelial cell proliferation or apoptosis are observed (J:77480)
• lamellar bodies persist in the alveolar lumen and fail to form myelin structures and a surfactant layer, unlike in wild-type lungs where surfactant lamellar bodies are found inside type II pneumocytes (J:77480)
• lamellar bodies persist in the alveolar lumen and fail to form myelin structures and a surfactant layer, unlike in wild-type lungs where surfactant lamellar bodies are found inside type II pneumocytes (J:77480)
• in newborn homozygotes, the number of surfactant protein-B (SP-B) and SP-D positive type II pneumocytes is decreased relative to that in wild-type controls (J:77480)
• in newborn homozygotes, the number of surfactant protein-B (SP-B) and SP-D positive type II pneumocytes is decreased relative to that in wild-type controls (J:77480)
• a significantly increased alveolar septal thickness is noted at E18.5 and at birth (J:77480)
• a significantly increased alveolar septal thickness is noted at E18.5 and at birth (J:77480)
• newborn homozygotes breath irregularly and display gasping and signs of retraction (J:77480)
• not due to growth retardation, respiratory muscle dysfunction, lung hypoplasia, impaired fluid clearance, hypoxic stress or other organ defects (J:77480)
• newborn homozygotes breath irregularly and display gasping and signs of retraction (J:77480)
• not due to growth retardation, respiratory muscle dysfunction, lung hypoplasia, impaired fluid clearance, hypoxic stress or other organ defects (J:77480)
• newborn homozygotes display severe respiratory failure due to extensive lung collapse (J:77480)
• newborn homozygotes display severe respiratory failure due to extensive lung collapse (J:77480)
• newborn homozygotes produce less surfactant phospholipids and less SP-A, SP-B and SP-D than wild-type controls (J:77480)
• newborn homozygotes produce less surfactant phospholipids and less SP-A, SP-B and SP-D than wild-type controls (J:77480)
• lung aeration (percentage of total surface filled with air) fails to increase after birth (J:77480)
• lung aeration (percentage of total surface filled with air) fails to increase after birth (J:77480)

cardiovascular system
• at E18.5, a small deficit in vascularization of saccular septa is observed, as determined by the number of vessels/sacculus (J:77480)
• unlike in newborn wild-type mice where capillaries are juxtaposed to the lumen in ~95% of terminal sacs, mutant capillaries lay more distant from the lumen in ~30% of terminal sacs (J:77480)
• however, basement membrane formation of microvessels in the septa is normal and branching of large pulmonary vessels is unaffected (J:77480)
• at E18.5, a small deficit in vascularization of saccular septa is observed, as determined by the number of vessels/sacculus (J:77480)
• unlike in newborn wild-type mice where capillaries are juxtaposed to the lumen in ~95% of terminal sacs, mutant capillaries lay more distant from the lumen in ~30% of terminal sacs (J:77480)
• however, basement membrane formation of microvessels in the septa is normal and branching of large pulmonary vessels is unaffected (J:77480)
• at E18.5, pulmonary angiogenesis is impaired as capillaries in the saccular septa fail to remodel properly (J:77480)
• at E18.5, pulmonary angiogenesis is impaired as capillaries in the saccular septa fail to remodel properly (J:77480)

Mouse Models of Human Disease
OMIM ID Ref(s)
Respiratory Distress Syndrome in Premature Infants 267450 J:77480


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory