title: The induction of tail malformations in trisomy 16 mouse fetuses heterozygous for the curly tail recessive gene.
abstract: The mouse mutant curly tail is thought to be inherited as an autosomal recessive (ct/ct) with incomplete penetrance so that approximately 60% of ct/ct individuals exhibit the curly tail (CT) phenotype. By outcrossing ct/ct with mouse stock carrying specific heterozygous combinations of Robertsonian (Rb) chromosomes, trisomy 16 (Ts16) and Ts19 mouse fetuses (and their chromosomally balanced littermates) were derived which were heterozygous for the ct gene. All of the Ts16 (ct/Rb;Rb) fetuses, studied between days 14-19 gestation had tail malformations, 86% of which were tail flexion defects (TFD) apparently very similar to the curly tail phenotype. Neither Ts19 nor any of the chromosomally balanced (ct/Rb) littermates from both experimental crosses showed any type of tail or other spinal malformation. At the 27-29 somite stage of development, Ts16 (ct/Rb;Rb) fetuses did not show any significant delay in the closure of the posterior neuropore (PNP) compared with their littermate controls, suggesting that the tail malformation observed in Ts16 (ct/Rb;Rb) occur as a result of mechanisms which differ significantly from those thought to be responsible to causing the curly tail malformation.
authors.affiliation: Paediatric Research Unit, Prince Philip Research Laboratories, United Medical School, Guy's Hospital, London, UK.
authors.forename: J A
authors.initials: JA
authors.lastname: Crolla
authors.forename: S K
authors.initials: SK
authors.lastname: Lakeman
authors.forename: M J
authors.initials: MJ
authors.lastname: Seller
mesh_terms: D000818:Animals; D003433:Crosses, Genetic; D005260:Female; D005808:Genes, Recessive; D008297:Male; D051379:Mice; D009154:Mutation; D010641:Phenotype; D013623:Tail / Q000196:embryology* / Q000254:growth & development; D014314:Trisomy