Human Disease and Mouse Model Detail

Human Disease

Term: Surfactant Metabolism Dysfunction, Pulmonary, 1; SMDP1
OMIM ID: 265120

Synonyms

Interstitial Lung Disease Due to Surfactant Protein B Deficiency; Interstitial Lung Disease, Nonspecific, Due to Surfactant Protein B Deficiency; Pulmonary Alveolar Proteinosis, Congenital, 1

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...

Csf2	CSF2
Csf2rb	CSF2RB

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

Sftpb

SFTPB

...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
Csf2^tm1Ard/Csf2^tm1Ard		involves: 129P2/OlaHsd * C57BL/6	J:18747
Csf2^tm1Mlg/Csf2^tm1Mlg		involves: 129S2/SvPas	J:17978
Csf2rb^tm1Mur/Csf2rb^tm1Mur		involves: 129P2/OlaHsd	J:24122
Csf2rb^tm1Mur/Csf2rb^tm1Mur		involves: 129P2/OlaHsd * C57BL/6	J:35829

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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