Phenotypes Associated with This Genotype

Genotype
MGI:6718509

• Allelic Composition: Dzip1^em1Sasl/Dzip1⁺
• Genetic Background: C57BL/6J-Dzip1^em1Sasl

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

cardiovascular system

abnormal mitral valve morphology ( J:291454 )

• adult mice exhibit myxomatous mitral valves

• reduced cilia length in valve mesenchyme

mitral valve prolapse ( J:291454 )

increased cardiac stroke volume ( J:291454 )

• moderate increase in end-diastolic volume

• however, ventricular contractile function is normal

cellular

abnormal motile cilium morphology ( J:291454 )

• reduced cilia length in valve mesenchyme

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mitral valve prolapse		DOID:988	OMIM:157700 OMIM:607829 OMIM:610840	J:291454