Phenotypes Associated with This Genotype

Genotype
MGI:6150918

• Allelic Composition: Daam1^tm1.1Tpy/Daam1^tm1.1Tpy; Nkx2-5^tm1(cre)Rjs/Nkx2-5⁺
• Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd

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

cardiovascular system

cardiovascular system phenotype ( J:228507 )

N • pulmonary artery and aorta in E16.5 embryos

abnormal myocardial trabeculae morphology ( J:228507 )

• in E16.5 embryos

• thicker ventricular trabecular zones, extending into lumen

• inconsistent size of right ventricular trabeculae

• irregular spacing of right ventricular trabeculae

• disorganized left ventricular trabeculae

• left ventricular trabeculae occupy much of ventricular lumen

thin ventricle myocardium compact layer ( J:228507 )

• in E16.5 embryos

abnormal heart left ventricle morphology ( J:228507 )

• in E16.5 embryos

• disorganized

• occupy much of lumen

• thicker trabecular zones

• thinner compact zones

abnormal heart right ventricle morphology ( J:228507 )

• in E16.5 embryos

• free wall does not extend as close to heart apex of 8-months old mice as in control mice

• base closer to tricuspid valve than in controls

• base not aligned with base of left ventricle

• thicker trabecular zones

• thinner compact zones

• inconsistent size of trabeculae

• irregular spacing of trabeculae

abnormal diastolic filling velocity ( J:228507 )

• mean E/A ratio (flow velocity across mitral valve early in diastole divided by that late in diastole) in left ventricle of 2-months old mice is less than 1 in 8-months old mice, compared to greater than 1 in control mice

decreased right ventricle systolic pressure ( J:228507 )

• in 8-months old mice

• lower acceleration of pulmonary artery (PA) flow, indicating reduced RV contraction force

• reduced fractional shortening

abnormal pulmonary pressure ( J:228507 )

• lower acceleration of pulmonary artery (PA) flow in 8-months old mice

muscle

abnormal myocardial trabeculae morphology ( J:228507 )

• in E16.5 embryos

• thicker ventricular trabecular zones, extending into lumen

• inconsistent size of right ventricular trabeculae

• irregular spacing of right ventricular trabeculae

• disorganized left ventricular trabeculae

• left ventricular trabeculae occupy much of ventricular lumen

thin ventricle myocardium compact layer ( J:228507 )

• in E16.5 embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
intrinsic cardiomyopathy		DOID:0060036		J:228507