title: Strain-specific hyperkyphosis and megaesophagus in Add1 null mice.
abstract: The three adducin proteins (α, β, and γ) share extensive sequence, structural, and functional homology. Heterodimers of α- and β-adducin are vital components of the red cell membrane skeleton, which is required to maintain red cell elasticity and structural integrity. In addition to anemia, targeted deletion of the α-adducin gene (Add1) reveals unexpected, strain-dependent non-erythroid phenotypes. On an inbred 129 genetic background, Add1 null mice show abnormal inward curvature of the cervicothoracic spine with complete penetrance. More surprisingly, a subset of 129-Add1 null mice develop severe megaesophagus, while examination of peripheral nerves reveals a reduced number of axons in 129-Add1 null mice at four months of age. These unforeseen phenotypes, described here, reveal new functions for adducin and provide new models of mammalian disease.
authors.forename: Raymond F
authors.initials: RF
authors.lastname: Robledo
authors.forename: Kevin L
authors.initials: KL
authors.lastname: Seburn
authors.forename: Anthony
authors.initials: A
authors.lastname: Nicholson
authors.forename: Luanne L
authors.initials: LL
authors.lastname: Peters
mesh_terms: D000818:Animals; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000378:metabolism; D004931:Esophageal Achalasia / Q000235:genetics* / Q000473:pathology; D017353:Gene Deletion; D007738:Kyphosis / Q000235:genetics* / Q000473:pathology; D051379:Mice; D057507:Mice, 129 Strain; D008810:Mice, Inbred C57BL; D019683:Penetrance; D013045:Species Specificity; D000099291:Adducins
chemical_list: D002148:Calmodulin-Binding Proteins; D003598:Cytoskeletal Proteins; D000099291:Adducins; C581701:Add1 protein, mouse