| First Author | Robledo RF | Year | 2012 |
| Journal | Genesis | Volume | 50 |
| Issue | 12 | Pages | 882-91 |
| PubMed ID | 22926980 | Mgi Jnum | J:191889 |
| Mgi Id | MGI:5463527 | Doi | 10.1002/dvg.22342 |
| Citation | Robledo RF, et al. (2012) Strain-specific hyperkyphosis and megaesophagus in Add1 null mice. Genesis 50(12):882-91 |
| abstractText | The three adducin proteins (alpha, beta, and gamma) share extensive sequence, structural, and functional homology. Heterodimers of alpha- and beta-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 alpha-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 50:882-891, 2012. (c) 2012 Wiley Periodicals, Inc. |
