Phenotypes Associated with This Genotype

Genotype
MGI:3525158

• Allelic Composition: Nfatc3^tm1Glm/Nfatc3^tm1Glm; Nfatc4^tm1Grc/Nfatc4^tm1Grc
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:70266 )

• 98% of homozygotes had died by E11.5

embryo

abnormal placental labyrinth vasculature morphology ( J:109139 )

• decreased vascularization at E10.5

abnormal vitelline vasculature morphology ( J:70266 )

• lack of organized blood vessels in yolk sac at E9.5

cardiovascular system

abnormal blood vessel morphology ( J:70266 )

• vascular disorganization increased from E9.5 to E10.5

• branches of internal carotids failed to form

• association of smooth muscle to endothelium is defective in both arteries and veins

abnormal intersomitic vessel morphology ( J:70266 )

• poorly formed intersomitic vessels

abnormal placental labyrinth vasculature morphology ( J:109139 )

• decreased vascularization at E10.5

abnormal vitelline vasculature morphology ( J:70266 )

• lack of organized blood vessels in yolk sac at E9.5

abnormal heart morphology ( J:84138 )

• 50% reduction in myocardial proliferation

• abnormal mitochondria in ventricular myocardium

trabecula carnea hypoplasia ( J:84138 )

• ventricular trabeculae were thin at E10.5

enlarged heart ( J:84138 )

• defects in cardiac development at E10.5 included dilated, thin translucent hearts, pericardial effusion and anemia

enlarged pericardium ( J:70266 )

• enlarged pericardial sac by E9.5

muscle

trabecula carnea hypoplasia ( J:84138 )

• ventricular trabeculae were thin at E10.5

nervous system

abnormal sensory neuron innervation pattern ( J:83744 )

• defects in sensory axon projections found in 70% of double mutants

digestive/alimentary system

aganglionic megacolon ( J:109139 )

endocrine/exocrine glands

annular pancreas ( J:109139 )

growth/size/body

enlarged heart ( J:84138 )

• defects in cardiac development at E10.5 included dilated, thin translucent hearts, pericardial effusion and anemia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:109139