Phenotypes Associated with This Genotype

Genotype
MGI:2175147

• Allelic Composition: Nkx2-5^tm1Siz/Nkx2-5^tm1Siz
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:52597 )

• homozygotes die between E9.5 and E11.5

cardiovascular system

abnormal dorsal aorta morphology ( J:52597 )

• at E9.5, homozygotes display a poorly developed dorsal aorta

abnormal intersomitic artery morphology ( J:52597 )

• at E9.5, homozygotes exhibit poorly developed intersomitic arteries

pharyngeal arch artery hypoplasia ( J:52597 )

• at E9.5, homozygotes exhibit poorly developed pharyngeal arch arteries

abnormal vitelline vasculature morphology ( J:52597 )

• at E9.5, mutant yolk sacs contain only large vascular channels with few blood cells

absent vitelline blood vessels ( J:52597 )

• at E9.5, mutant yolk sacs lack large vitelline blood vessels

absent myocardial trabeculae ( J:52597 )

• at E9.5, homozygotes show failure of myocardial trabeculation

abnormal cardiac outflow tract development ( J:52597 )

• at E9.5, homozygotes exhibit a poorly developed, stenotic outflow tract

abnormal heart development ( J:52597 )

• homozygotes display abnormal cardiac development after correct rightward looping of the heart tube

abnormal fetal atrioventricular canal morphology ( J:52597 )

• at E9.5, the mutant AV canal remains wide open as opposed to displaying a narrow luminal diameter; the bulboventricular sulcus fails to form

absent atrioventricular cushions ( J:52597 )

• at E9.5, homozygotes display lack of endocardial cushion formation

common ventricle ( J:52597 )

• at E9.5, homozygotes exhibit a single ventricle that is abruptly connected to an abnormal outflow tract

pericardial effusion ( J:52597 )

• at E10.5, homozygotes display massive pericardial effusion

embryo

embryonic growth retardation ( J:52597 )

• at E10.5, homozygotes exhibit severe growth retardation

abnormal embryonic tissue morphology ( J:52597 )

pharyngeal arch artery hypoplasia ( J:52597 )

• at E9.5, homozygotes exhibit poorly developed pharyngeal arch arteries

abnormal extraembryonic tissue morphology ( J:52597 )

abnormal vitelline vasculature morphology ( J:52597 )

• at E9.5, mutant yolk sacs contain only large vascular channels with few blood cells

absent vitelline blood vessels ( J:52597 )

• at E9.5, mutant yolk sacs lack large vitelline blood vessels

abnormal visceral yolk sac morphology ( J:52597 )

• at E9.5, mutant yolk sacs show abnormal separation of the endodermal and mesodermal layers

excessive folding of visceral yolk sac ( J:52597 )

• at E9.5, mutant yolk sacs exhibit excessive surface folding

pale yolk sac ( J:52597 )

abnormal embryonic hematopoiesis ( J:52597 )

hematopoietic system

abnormal embryonic hematopoiesis ( J:52597 )

anemia ( J:52597 )

• at E9.5, mutant embryos are severely anemic relative to wild-type embryos

growth/size/body

embryonic growth retardation ( J:52597 )

• at E10.5, homozygotes exhibit severe growth retardation

respiratory system

pharynx hypoplasia ( J:69976 )

• at E9.5 and E10.5, homozygotes display a defect in pharynx formation, with fewer endodermal cells detected in the pharyngeal floor and pouches

cellular

decreased cell proliferation ( J:69976 )

• at E8.75, homozygotes exhibit reduced proliferation of pharyngeal endodermal cells relative to wild-type mice

muscle

absent myocardial trabeculae ( J:52597 )

• at E9.5, homozygotes show failure of myocardial trabeculation

craniofacial

pharyngeal arch artery hypoplasia ( J:52597 )

• at E9.5, homozygotes exhibit poorly developed pharyngeal arch arteries

homeostasis/metabolism

pericardial effusion ( J:52597 )

• at E10.5, homozygotes display massive pericardial effusion