Phenotypes Associated with This Genotype

Genotype
MGI:3710216

• Allelic Composition: Sox9^tm1Gsr/Sox9⁺; Tg(Col2a1-cre)1Bhr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

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

cardiovascular system

abnormal heart valve morphology ( J:121352 )

• 75% of mutants, starting at 3 months of age, show mineral deposits in atrioventricular and outflow tract heart valve leaflets compared to 37.5% of controls

abnormal atrioventricular valve morphology ( J:121352 )

• the atrioventricular valve leaflet area is greater than in controls and is associated with an increase in proteoglycans at the tip of the valve leaflets

calcified mitral valve ( J:121352 )

• adult mitral valves show calcium deposits

abnormal semilunar valve morphology ( J:121352 )

• the outflow tract valve leaflet area is greater than in controls and is associated with an increase in proteoglycans at the tip of the valve leaflets

thick heart valve cusps ( J:121352 )

• from 3 months of age, heart valve leaflets are thickened