All Phenotypes Dzip1<em1Sasl> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Dzip1^em1Sasl
endonuclease-mediated mutation 1, Susan Slaugenhaupt
MGI:6718494

Summary

1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Dzip1^em1Sasl/Dzip1⁺	C57BL/6J-Dzip1^em1Sasl	MGI:6718509

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dzip1^em1Sasl mutation (0 available); any Dzip1 mutation (37 available)

♀	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

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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