Strain-specific hyperkyphosis and megaesophagus in Add1 null mice.
Genesis 2012; 50:882-91.
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-dependentnon-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. genesis 1-10, 2012. © 2012 Wiley Periodicals, Inc.
Robledo, Raymond F; Seburn, Kevin L; Nicholson, Anthony; and Peters, Luanne L, "Strain-specific hyperkyphosis and megaesophagus in Add1 null mice." (2012). Faculty Research 2012. 153.