Human Disease and Mouse Model Detail

Human Disease

Term: Cleft Lip/Palate-Ectodermal Dysplasia Syndrome; CLPED1
OMIM ID: 225060

Synonyms

Ectodermal Dysplasia, Margarita Island Type; Ectodermal Dysplasia, Type 4; ED4; Zlotogora-Ogur Syndrome

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Pvrl1

PVRL1

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background	Ref(s)
No similarity to the expected human disease phenotype was found.¹
NOT	Pvrl1^tm1Ytk/Pvrl1^tm1Ytk Pvrl3^tm1Ytk/Pvrl3⁺		involves: 129X1/SvJ * C57BL/6	J:165548
NOT	Pvrl1^tm1Ytk/Pvrl1⁺ Pvrl3^tm1Ytk/Pvrl3^tm1Ytk		involves: 129X1/SvJ * C57BL/6	J:165548
NOT	Pvrl1^tm1Ytk/Pvrl1^tm1Ytk		involves: 129X1/SvJ * C57BL/6	J:165548

¹One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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