absent alveolar lamellar bodies Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant (Mammalian Phenotype Ontology, MP_0010814)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010814
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Genes

6 gene mutations causing the absent alveolar lamellar bodies phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
NOS3 nitric oxide synthase 3 (endothelial cell)
SFTPB surfactant protein B