Phenotypes Associated with This Genotype

Genotype
MGI:6236251

• Allelic Composition: Rbpj^tm1Kyo/Rbpj⁺
• Genetic Background: involves: 129S2/SvPas * CD-1

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

cardiovascular system

abnormal aortic valve morphology ( J:187551 )

• collagen distribution is extended all over the valve area in mice fed a hypercholesterolemic diet supplemented with vitamin D (HCVD), indicating aortic valve fibrosis

calcified aortic valve cusp ( J:187551 )

• mice fed the HCVD diet exhibit extensive aortic valve leaflet calcification and develop calcific aortic disease after 16 weeks on this diet

thick aortic valve cusps ( J:187551 )

• mice exhibit increased leaflet thickness at 16 weeks on the HCVD diet

cardiac fibrosis ( J:187551 )

• mice fed the HCVD diet develop aortic valve fibrosis

decreased cardiac muscle contractility ( J:187551 )

• mice exhibit lower fractional shortening and ejection fraction after 4 months on the HCVD diet than wild-type mice on the same diet

abnormal heart echocardiography feature ( J:187551 )

• after 4 months of a hypercholesterolemic diet supplemented with vitamin D (HCVD), mice exhibit a higher aortic valve maximum velocity measured by echocardiography and higher transvalvular maximum velocity measured by continuous-wave Doppler imaging and lower ejection fraction velocity ratio values than controls

aortic valve inflammation ( J:187551 )

• mice fed the HCVD diet exhibit increased aortic valve inflammation, showing increased macrophage infiltration in the leaflets

immune system

aortic valve inflammation ( J:187551 )

• mice fed the HCVD diet exhibit increased aortic valve inflammation, showing increased macrophage infiltration in the leaflets

muscle

decreased cardiac muscle contractility ( J:187551 )

• mice exhibit lower fractional shortening and ejection fraction after 4 months on the HCVD diet than wild-type mice on the same diet

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aortic valve disease		DOID:62		J:187551