Phenotypes Associated with This Genotype

Genotype
MGI:2176444

• Allelic Composition: Rxra^tm1Rev/Rxra⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

cardiovascular system

pulmonary artery stenosis ( J:35363 )

• one heterozygote shows pulmonary artery stenosis

abnormal myocardium layer morphology ( J:35363 )

abnormal myocardial trabeculae morphology ( J:35363 )

• 49% show trabecular defects with less organized trabecular arrangement

abnormal myocardium compact layer morphology ( J:35363 )

• intermediate thickness of compact layer compared to homozygotes and wild-type, especially prominent at E13.5 and 14.5

abnormal heart development ( J:35363 )

• 15% exhibit conotruncal defects, with severity ranging from absent conotruncal ridges (3%) to a shortened conotruncal septum (7%)

double outlet right ventricle ( J:35363 )

• seen in 5% of heterozygotes

abnormal atrioventricular valve morphology ( J:35363 )

• atrioventricular cushion defects range from absent fusion (3%) and hypoplasia (8%) to abnormalities of mature valvular structures

abnormal mitral valve morphology ( J:35363 )

• 17% show cleft mitral valve

mitral valve stenosis ( J:35363 )

• 2% show mitral valve stenosis

abnormal tricuspid valve morphology ( J:35363 )

• 8% show tricuspid valve abnormalities

abnormal heart ventricle morphology ( J:35363 )

abnormal ventricle papillary muscle morphology ( J:35363 )

• 86% show papillary muscle defects

abnormal interventricular septum morphology ( J:35363 )

thin ventricular wall ( J:35363 )

• severe thinning of the ventricular wall is seen in both the left (2%) and right (2%) ventricles, but never simultaneously

decreased heart left ventricle wall thickness ( J:35363 )

• thin left ventricle wall is associated with mitral valve stenosis yet a normal right ventricle and semilunar va

decreased heart right ventricle wall thickness ( J:35363 )

• thin right ventricle is associated with dysmorphic tricuspid valve yet normal left-sided and semilunar structures

muscle

abnormal myocardium layer morphology ( J:35363 )

abnormal myocardial trabeculae morphology ( J:35363 )

• 49% show trabecular defects with less organized trabecular arrangement

abnormal myocardium compact layer morphology ( J:35363 )

• intermediate thickness of compact layer compared to homozygotes and wild-type, especially prominent at E13.5 and 14.5

abnormal ventricle papillary muscle morphology ( J:35363 )

• 86% show papillary muscle defects

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital heart disease		DOID:1682		J:35363