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Phenotypes Associated with This Genotype
Genotype
MGI:2176444
Allelic
Composition
Rxratm1Rev/Rxra+
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rxratm1Rev mutation (1 available); any Rxra mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• one heterozygote shows pulmonary artery stenosis
• 49% show trabecular defects with less organized trabecular arrangement
• intermediate thickness of compact layer compared to homozygotes and wild-type, especially prominent at E13.5 and 14.5
• 15% exhibit conotruncal defects, with severity ranging from absent conotruncal ridges (3%) to a shortened conotruncal septum (7%)
• seen in 5% of heterozygotes
• atrioventricular cushion defects range from absent fusion (3%) and hypoplasia (8%) to abnormalities of mature valvular structures
• 17% show cleft mitral valve
• 2% show mitral valve stenosis
• 8% show tricuspid valve abnormalities
• 86% show papillary muscle defects
• severe thinning of the ventricular wall is seen in both the left (2%) and right (2%) ventricles, but never simultaneously
• thin left ventricle wall is associated with mitral valve stenosis yet a normal right ventricle and semilunar valves
• thin right ventricle is associated with dysmorphic tricuspid valve yet normal left-sided and semilunar structures

muscle
• 49% show trabecular defects with less organized trabecular arrangement
• intermediate thickness of compact layer compared to homozygotes and wild-type, especially prominent at E13.5 and 14.5
• 86% show papillary muscle defects

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/28/2022
MGI 6.20
The Jackson Laboratory