impaired basement membrane formation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description defect in the development of the extracellular supportive tissue closely adjacent to the basal surface of the epithelium of muscle cells, fat cells and Schwann cells, which is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components (Mammalian Phenotype Ontology, MP_0003044)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003044
Similar Terms
Downloads & Tools

Genes

10 gene mutations causing the impaired basement membrane formation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADM adrenomedullin
FKTN fukutin
FLRT3 fibronectin leucine rich transmembrane protein 3
HSPG2 heparan sulfate proteoglycan 2
ITGB8 integrin, beta 8
LAMA4 laminin, alpha 4
LAMA5 laminin, alpha 5
P4HA1 prolyl 4-hydroxylase, alpha polypeptide I
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)