CDKL5 deficiency is a severe
neurological disorder caused by mutations in the X-linked
Cyclin-Dependent Kinase-Like 5 gene (CDKL5). The predominant human CDKL5 brain
isoform is a 9.7kb transcript comprised of 18 exons with a large 6.6kb 3'-untranslated region (UTR). Mammalian models of
CDKL5 disorder are currently limited to mouse, and little is known about Cdkl5 in other organisms used to model
neurodevelopmental disorders, such as rat. In this study we characterise, both bioinformatically and experimentally, the rat Cdkl5 gene structure and its associated transcript
isoforms. New exonic regions, splice sites and
UTRs are described, confirming the presence of four distinct transcript
isoforms. The predominant
isoform in the brain, which we name rCdkl5_1, is orthologous to the human hCDKL5_1 and mouse mCdkl5_1
isoforms and is the most highly expressed
isoform across all brain regions tested. This updated gene model of Cdkl5 in rat provides a framework for studies into its
protein products and provides a reference for the development of molecular
therapies for testing in rat models of
CDKL5 disorder.