biostudies-literatureRobledo RFNHLBI NIH HHSNCI NIH HHS882-91https://www.ebi.ac.uk/biostudies/studies/S-EPMC3534825biostudies-literatureUnknown50(12)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 functiGenesis (New York, N.Y. : 2000)Strain-specific hyperkyphosis and megaesophagus in Add1 null mice.PMC3534825HL075714R01 HL075714P30 CA034196CA34196Nicholson ASeburn KLPeters LLRobledo RFfalseStrain-specific hyperkyphosis and megaesophagus in Add1 null mice.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 functi2012-01-01T00:00:00Z2012 Dec2025-04-27T01:44:52.992Z2019-06-05T18:03:08ZS-EPMC35348252292698010.1002/dvg.22342