{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Robledo RF"],"funding":["NHLBI NIH HHS","NCI NIH HHS"],"pagination":["882-91"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3534825"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["50(12)"],"pubmed_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 functi"],"journal":["Genesis (New York, N.Y. : 2000)"],"pubmed_title":["Strain-specific hyperkyphosis and megaesophagus in Add1 null mice."],"pmcid":["PMC3534825"],"funding_grant_id":["HL075714","R01 HL075714","P30 CA034196","CA34196"],"pubmed_authors":["Nicholson A","Seburn KL","Peters LL","Robledo RF"],"additional_accession":[]},"is_claimable":false,"name":"Strain-specific hyperkyphosis and megaesophagus in Add1 null mice.","description":"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 functi","dates":{"release":"2012-01-01T00:00:00Z","publication":"2012 Dec","modification":"2025-04-27T01:44:52.992Z","creation":"2019-06-05T18:03:08Z"},"accession":"S-EPMC3534825","cross_references":{"pubmed":["22926980"],"doi":["10.1002/dvg.22342"]}}