Phenotypes Associated with This Genotype

Genotype
MGI:2665413

• Allelic Composition: Zfpm2^tm1Sho/Zfpm2^tm1Sho
• Genetic Background: involves: 129S1/Sv

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

Abnormal lung development in the Zfpm2^tm1Sho/Zfpm2^tm1Sho mouse

muscle

thin ventricle myocardium compact layer ( J:62879 )

• at E13.5-E15.0, mutant embryos display thinning of the compact ventricular myocardium, similar to a "papyraceous phenotype"

ventricular myocardium compact layer hypoplasia ( J:62879 )

• a striking ventricular compact layer hypoplasia is observed

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:62879 )

• mutant embryos die at midgestation between E12.5 and E15.5; some are found dead by E13.5

• at E14.5, approximately 50% of mutant embryos are necrotic and undergoing resorption

cardiovascular system

supravalvar pulmonary trunk stenosis ( J:62879 )

• a severely obstructed pulmonary trunk (stenosis) is observed at E12.5

thin ventricle myocardium compact layer ( J:62879 )

• at E13.5-E15.0, mutant embryos display thinning of the compact ventricular myocardium, similar to a "papyraceous phenotype"

ventricular myocardium compact layer hypoplasia ( J:62879 )

• a striking ventricular compact layer hypoplasia is observed

abnormal cardiac epithelial to mesenchymal transition ( J:62879 )

• an early developmental block prevents epithelial-to-mesenchymal transition of "transforming" epicardial cells and subsequent formation of coronary vascular plexus within the subepicardial space

absent coronary vessels ( J:62879 )

• coronary vasculature is absent, despite formation of an intact epicardial layer and expression of epicardium-specific genes

overriding aortic valve ( J:62879 )

• an overriding aorta is detected at E13.5-E15.0

common atrioventricular valve ( J:62879 )

• a common atrioventricular valve is situated between the left and right ventricles

abnormal heart atrium morphology ( J:62879 )

• at E13.5, mutant atria are thinner than normal and only a few trabeculae are observed

atrial septal defect ( J:62879 )

• atrial septal defects are detected at E13.5-E15.5

dilated heart atrium ( J:62879 )

• at E13.5, mutant atria are significantly dilated

ventricular septal defect ( J:62879 )

• a subaortic ventricular septal defect is noted at E13.5-E15.0, as part of a complete common atrioventricular canal

globular heart ( J:62879 )

• by 13.5, mutant hearts are rounder than normal, as sharp ventricular apicies are absent

heart right ventricle outflow tract stenosis ( J:62879 )

• subpulmonic stenosis is detected at E13.5-E15.0

thin ventricular wall ( J:62879 )

hemorrhage ( J:62879 )

• at E13.5, mutant embryos often display peripheral hemorrhage

• however, no bleeding is noted around the heart

decreased heart rate ( J:62879 )

• by E13.5, pulsation is weaker and slower, and blood cells remain within the heart even after contraction

congestive heart failure ( J:62879 )

• at E13.5, mutant embryos display an overall appearance consistent with heart failure

respiratory system

abnormal lung development ( J:62879 , J:100119 )

• underdevelopment of lungs is observed at E13.5-E15, secondary to heart failure (J:62879)

• branching in unaffected lobes appears delayed by 6 - 12 hours in homozygous lung culture explants; however, all mutant lungs do develop the normal branching pattern after 5 days in culture (J:100119)

absent right lung accessory lobe ( J:100119 )

• the right lung accessory lobe fails to develop

pulmonary hypoplasia ( J:62879 , J:100119 )

• at E12, prior to onset of diaphragm function, mutant lungs are smaller and lack development of an accessory lobe (J:100119)

homeostasis/metabolism

hydrops fetalis ( J:62879 )

• at E13.5, mutant embryos are edematous

liver/biliary system

small liver ( J:62879 )

• a smaller liver size is observed at E13.5-E15.5, secondary to heart failure

integument

pallor ( J:62879 )

• at E13.5, mutant embryos are pale

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tetralogy of Fallot		DOID:6419	OMIM:187500	J:62879 , J:78688