Human Disease and Mouse Model Detail

Human Disease

Term: Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins;
OMIM ID: 265380

Synonyms

Acdmpv; Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and Other Congenital Anomalies; Pulmonary Hypertension, Familial Persistent, of the Newborn

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...

Nos3

NOS3

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Cps1	CPS1
Foxf1	FOXF1

...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
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Nos3^tm1Unc/Nos3^tm1Unc		B6.129P2-Nos3^tm1Unc/J	J:98913

¹Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.

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