Phenotypes for Ift88 Nfatc1 MGI:6718510 MGI Mouse

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Phenotypes Associated with This Genotype

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift88^tm1Bky mutation (1 available); any Ift88 mutation (46 available)
Nfatc1^tm1.1(cre)Bz mutation (0 available); any Nfatc1 mutation (50 available)

♀	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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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