Phenotypes Associated with This Genotype

Genotype
MGI:5695318

• Allelic Composition: Dchs1^tm1.2Irv/Dchs1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

cardiovascular system

abnormal mitral valve morphology ( J:225789 )

• changes in mitral-valve shape are seen at E15.5-E17.5, but not at E11.5-E13.5, with changes in valve length and width at E17.

abnormal mitral valve cusp morphology ( J:225789 )

• myxomatous degeneration with increased proteoglycan accumulation in both mitral leaflets

thick mitral valve cusps ( J:225789 )

• prominent posterior leaflet thickening with increases in valve volume in adults

mitral valve prolapse ( J:225789 )

• mitral valve prolapse with pronounced involvement of the posterior leaflet, which is elongated and shifts the leaflet coaptation anteriorly

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mitral valve prolapse		DOID:988	OMIM:157700 OMIM:607829 OMIM:610840	J:225789