Phenotypes Associated with This Genotype

Genotype
MGI:3620558

• Allelic Composition: Zfpm2^tm1Jml/Zfpm2^tm1Jml
• Genetic Background: involves: 129X1/SvJ

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:63121 )

• die between E13 and E14

cardiovascular system

abnormal heart development ( J:63121 )

abnormal heart atrium morphology ( J:63121 )

dilated heart atrium ( J:63121 )

complete atrioventricular septal defect ( J:63121 )

• large atrioventricular canal-type atrial septal defect

abnormal heart valve morphology ( J:63121 )

tricuspid valve atresia ( J:63121 )

common atrioventricular valve ( J:63121 )

• display a single, poorly formed, L-sided common atrioventricular valve that connects both atria to the left ventricle

abnormal heart ventricle morphology ( J:63121 )

thin left ventricle myocardium compact layer ( J:63121 )

• the compact zone of the left ventricle myocardium is thinner

ventricular septal defect ( J:63121 )

abnormal heart right ventricle morphology ( J:63121 )

• smaller size of the right ventricle cavity

abnormal heart ventricle outflow tract morphology ( J:63121 )

• pulmonic outflow tract is longer, hyperplastic, and narrowed

• position of the aortic outflow tract is abnormal, with a longer length and unusual shape behind the right ventricle

abnormal aortic valve morphology ( J:63121 )

• rightward displacement of the aortic valve

abnormal pulmonary valve morphology ( J:63121 )

• pulmonary valve is longer, hyperplastic, and thickened

pulmonary valve hyperplasia ( J:63121 )

thick pulmonary valve ( J:63121 )

• thickened pulmonic valve

heart right ventricle outflow tract stenosis ( J:63121 )

• narrowing of the pulmonic outflow tract

pericardial edema ( J:63121 )

congestive heart failure ( J:63121 )

homeostasis/metabolism

pericardial edema ( J:63121 )

skin edema ( J:63121 )

• subcutaneous edema

integument

skin edema ( J:63121 )

• subcutaneous edema

muscle

thin left ventricle myocardium compact layer ( J:63121 )

• the compact zone of the left ventricle myocardium is thinner

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tricuspid atresia		DOID:0080169	OMIM:605067	J:63121