Mondini Dysplasia In The ENU-Mutagenised Miniature Pig As An Animal Model

Mondini dysplasia is a most common congenital inner ear malformation,characterized by cochlear deformity and often associated with enlarged vestibularaqueduct. In Mondini deformity, also known as type II incomplete partition, the cochleaconsists of only one and a half turns, of which the basal cochlear turn appears normalwhile the middle and apical turns coalesce to form a cystic apex. The interscalar septumand osseous spiral lamina are absent. The modiolus is present only at the level of thebasal turn. Yet, the genes involved in this disease remain unidentified. Nor does themechanism of deafness in Mondini patients has been well elucidated. Thus it isextremely significant to establish an animal model to solve those problems.The miniature pigs, as a domesticated eutherian large mammal animal model, hasevolved similarly with human beings and represents a taxon with diverse selectedphenotypes. We constructed an albino bama miniature swine deafnesspedigrees by ENU-induced mutagenesis. Through a comparative analysis ofmorphology and auditory function of inner ear, the following important results hasbeen found:1. The albino and profound sensorineural hearing loss are highly associated.2. Imageology and Gross morphology research shows that the deafness bama miniaturepigs developed coclear malformation, characterized by Mondini dysplasia in humanbeings.3. It is the first time to report a Mondini dysplasia miniature pig model.4. Theprimary genetic analysis excluded the Mift gene from causative genes.We are convinced that with further researches performed with this animal modelsuch as genetic analysis, we will be able to identify the causative genes andreveal the molecular pathogenesis of Mondini dysplasia.