title: Cleft Palate, Moderate Lung Developmental Retardation and Early Postnatal Lethality in Mice Deficient in the Kir7.1 Inwardly Rectifying K+ Channel.
abstract: Kir7.1 is an inwardly rectifying K+ channel of the Kir superfamily encoded by the kcnj13 gene. Kir7.1 is present in epithelial tissues where it colocalizes with the Na+/K+-pump probably serving to recycle K+ taken up by the pump. Human mutations affecting Kir7.1 are associated with retinal degeneration diseases. We generated a mouse lacking Kir7.1 by ablation of the Kcnj13 gene. Homozygous mutant null mice die hours after birth and show cleft palate and moderate retardation in lung development. Kir7.1 is expressed in the epithelium covering the palatal processes at the time at which palate sealing takes place and our results suggest it might play an essential role in late palatogenesis. Our work also reveals a second unexpected role in the development and the physiology of the respiratory system, where Kir7.1 is expressed in epithelial cells all along the respiratory tree.
authors.affiliation: Centro de Estudios Científicos (CECs), Valdivia, Chile.
authors.forename: Sandra
authors.initials: S
authors.lastname: Villanueva
authors.affiliation: Centro de Estudios Científicos (CECs), Valdivia, Chile; Doctorado en Ciencias Veterinarias de la Universidad Austral de Chile, Valdivia, Chile.
authors.forename: Johanna
authors.initials: J
authors.lastname: Burgos
authors.affiliation: Centro de Estudios Científicos (CECs), Valdivia, Chile.
authors.forename: Karen I
authors.initials: KI
authors.lastname: López-Cayuqueo
authors.affiliation: Regeneron Pharmaceuticals, Inc., Tarrytown, New York, United States of America.
authors.forename: Ka-Man Venus
authors.initials: KM
authors.lastname: Lai
authors.affiliation: Regeneron Pharmaceuticals, Inc., Tarrytown, New York, United States of America.
authors.forename: David M
authors.initials: DM
authors.lastname: Valenzuela
authors.affiliation: Centro de Estudios Científicos (CECs), Valdivia, Chile.
authors.forename: L Pablo
authors.initials: LP
authors.lastname: Cid
authors.affiliation: Centro de Estudios Científicos (CECs), Valdivia, Chile.
authors.forename: Francisco V
authors.initials: FV
authors.lastname: Sepúlveda
mesh_terms: D000818:Animals; D000831:Animals, Newborn; D001835:Body Weight; D002972:Cleft Palate / Q000196:embryology / Q000473:pathology*; D047108:Embryonic Development; D004848:Epithelium / Q000378:metabolism / Q000473:pathology; D008168:Lung / Q000002:abnormalities / Q000196:embryology / Q000254:growth & development* / Q000473:pathology*; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D024661:Potassium Channels, Inwardly Rectifying / Q000172:deficiency* / Q000378:metabolism; D016019:Survival Analysis
chemical_list: C489477:Kir7.1 channel; D024661:Potassium Channels, Inwardly Rectifying