Phenotypes Associated with This Genotype

Genotype
MGI:6718510

• Allelic Composition: Ift88^tm1Bky/Ift88^tm1Bky; Nfatc1^tm1.1(cre)Bz/Nfatc1⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

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

cardiovascular system

abnormal mitral valve morphology ( J:291454 )

• failure of ciliogenesis with lack of axonemes in valve mesenchyme

• adult mice exhibit myxomatous mitral valve disease with loss of normal extracellular matrix distribution

abnormal mitral valve cusp morphology ( J:291454 )

• enlarged at P0

• however, mice exhibit normal proliferation and total number of valve progenitor cells

cellular

abnormal motile cilium morphology ( J:291454 )

• failure of ciliogenesis with lack of axonemes in valve mesenchyme

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mitral valve disease		DOID:61		J:291454