title: Novel Alternative Splice Variants of Mouse Cdk5rap2.
abstract: Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by a pronounced reduction of brain volume and intellectual disability. A current model for the microcephaly phenotype invokes a stem cell proliferation and differentiation defect, which has moved the disease into the spotlight of stem cell biology and neurodevelopmental science. Homozygous mutations of the Cyclin-dependent kinase-5 regulatory subunit-associated protein 2 gene CDK5RAP2 are one genetic cause of MCPH. To further characterize the pathomechanism underlying MCPH, we generated a conditional Cdk5rap2 LoxP/hCMV Cre mutant mouse. Further analysis, initiated on account of a lack of a microcephaly phenotype in these mutant mice, revealed the presence of previously unknown splice variants of the Cdk5rap2 gene that are at least in part accountable for the lack of microcephaly in the mice.
authors: Institute of Cell Biology and Neurobiology, Charité -Universitätsmedizin Berlin, Berlin, Germany; Department of Pediatric Neurology, Charité -Universitätsmedizin Berlin, Berlin, Germany.
authors: Nadine
authors: N
authors: Kraemer
authors: Institute of Cell Biology and Neurobiology, Charité -Universitätsmedizin Berlin, Berlin, Germany; Department of Pediatric Neurology, Charité -Universitätsmedizin Berlin, Berlin, Germany.
authors: Lina
authors: L
authors: Issa-Jahns
authors: Institute of Cell Biology and Neurobiology, Charité -Universitätsmedizin Berlin, Berlin, Germany; Department of Pediatric Neurology, Charité -Universitätsmedizin Berlin, Berlin, Germany.
authors: Gerda
authors: G
authors: Neubert
authors: Institute of Cell Biology and Neurobiology, Charité -Universitätsmedizin Berlin, Berlin, Germany; Department of Pediatric Neurology, Charité -Universitätsmedizin Berlin, Berlin, Germany.
authors: Ethiraj
authors: E
authors: Ravindran
authors: Centre for Neuroscience, Indian Institute of Science, Bangalore, India.
authors: Shyamala
authors: S
authors: Mani
authors: Institute of Cell Biology and Neurobiology, Charité -Universitätsmedizin Berlin, Berlin, Germany.
authors: Olaf
authors: O
authors: Ninnemann
authors: Institute of Cell Biology and Neurobiology, Charité -Universitätsmedizin Berlin, Berlin, Germany; Department of Pediatric Neurology, Charité -Universitätsmedizin Berlin, Berlin, Germany; Sozialpädiatrisches Zentrum (SPZ), Charité -Universitätsmedizin Berlin, Berlin, Germany.
authors: Angela M
authors: AM
authors: Kaindl
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000254:growth & development; D018797:Cell Cycle Proteins / Q000235:genetics*; D049109:Cell Proliferation; D020022:Genetic Predisposition to Disease; D006801:Humans; D008279:Magnetic Resonance Imaging; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D008831:Microcephaly / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D058953:Neural Stem Cells / Q000502:physiology; D020033:Protein Isoforms / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: C549613:Cdk5rap2 protein, mouse; D018797:Cell Cycle Proteins; D009419:Nerve Tissue Proteins; D020033:Protein Isoforms