Familial immotile-cilia syndrome in English springer spaniel dogs

A laboratory-maintained colony of English springer spaniel dogs heterozygous for a putative autosomal recessive immotile-cilia syndrome (ICS) has been studied. Matings between dogs thought to be heterozygous for ICS resulted in 22 pups, five (three males and two females) of which were homozygous for ICS. Four of the five ICS-affected dogs had chronic rhinitis and bronchopneumonia. The other dog had a serious nasal discharge and died at 10 days. Four dogs had situs inversus totalis (kartagener syndrome), and the two males of reproductive age were azoospermic. In the two ICS dogs studied for ciliary function, in vivo mucociliary clearance was absent, and in vitro ciliary beat was rarely observed and of low frequency. Scanning and transmission electron microscopy disclosed the same lesions in respiratory cilia from all dogs with ICS, including random orientation and partial outer dynein arm deficiency. Four of five dogs with ICS had dilated lateral ventricles. One female pup with neonatal rhinitis and bronchopneumonia, situs solitus, and dilated lateral ventricles was presumed to be homozygous for ICS, but died without functional or structural confirmation of defective respiratory cilia. An autosomal recessive mode of inheritance for the ciliary defects and respiratory signs of ICS in these dogs is proposed.