Phenotypes Associated with This Genotype

Genotype
MGI:3589477

• Allelic Composition: Zfpm2^lil/Zfpm2^lil
• Genetic Background: involves: A/J

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

Abnormal pulmonary and diaphragmatic development in the Zfpm2^lil/Zfpm2^lil mouse

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:100119 )

• progressive loss of embryos is seen from E13.5 to E15.5; number surviving to birth is less than 5% of expected value

• 1 viable embryo was found on E18.5, while some mice were found dead after birth

respiratory system

absent right lung accessory lobe ( J:100119 )

abnormal right lung middle lobe morphology ( J:100119 )

• underdevelopment of the anterior portion of the right lung middle lobe

pulmonary hypoplasia ( J:100119 )

• bilateral pulmonary hypoplasia including absence of an accessory lobe on the right side and underdevelopment of the anterior right middle lobe is seen

cardiovascular system

thin myocardium compact layer ( J:100119 )

• thinning of the outer compact layer at E15.5

thin myocardium ( J:100119 )

• at E15.5, the myocardium is poorly developed with thinning of the outer compact layer

increased atrioventricular cushion size ( J:100119 )

• at E15.5 the endocardial cushions are enlarged and abnormally developed

abnormal coronary vessel morphology ( J:100119 )

• decreased vascularization of the myocardium is found at E15.

double outlet right ventricle ( J:100119 )

• seen at E15.5

increased heart atrium size ( J:100119 )

• enlarged atria are seen in homozygotes that survive to birth

ostium primum atrial septal defect ( J:100119 )

• ostium primum atrial septal defects are seen in homozygotes that survive to birth

complete atrioventricular septal defect ( J:100119 )

• at E15.5 some embryos still have a complete atrioventricular canal

ventricular septal defect ( J:100119 )

• atrioventricular canal type ventricular septal defects are seen in homozygotes that survive to birth

muscle

thin myocardium compact layer ( J:100119 )

• thinning of the outer compact layer at E15.5

thin myocardium ( J:100119 )

• at E15.5, the myocardium is poorly developed with thinning of the outer compact layer

abnormal diaphragm morphology ( J:100119 )

• the diaphragm is intact but muscularization is absent in the dorsal regions with the few myotubes that are present radiating in a dorsal-ventral orientation and muscle tissue does not meet the entire surface of the body walls

thin diaphragm muscle ( J:100119 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital diaphragmatic hernia		DOID:3827	OMIM:142340 OMIM:222400 OMIM:610187	J:100119