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Human Disease and Mouse Model Detail
Human Disease

Term: Surfactant Metabolism Dysfunction, Pulmonary, 3; SMDP3
OMIM ID: 610921

Synonyms Interstitial Lung Disease Due to Abca3 Deficiency; Pulmonary Alveolar Proteinosis, Congenital, 3
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...
Abca3 ABCA3
  mousehuman...both mouse and human orthologous genes.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Abca3tm1Frm/Abca3tm1Frm   involves: 129S/SvEv J:120296
Abca3tm1Holz/Abca3tm1Holz   involves: 129S6/SvEvTac * C57BL/6 J:122736
Abca3tm1Nina/Abca3tm1Nina   involves: 129P2/OlaHsd * C57BL/6J J:121155

1Human genes are associated with this disease. Mouse model genotypes 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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory