Kraemer, Nadine and Issa-Jahns, Lina and Neubert, Gerda and Ravindran, Ethiraj and Mani, Shyamala and Ninnemann, Olaf and Kaindl, Angela M (2015) Novel Alternative Splice Variants of Mouse Cdk5rap2. In: PLOS ONE, 10 (8).
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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.
| Item Type: | Journal Article |
|---|---|
| Publication: | PLOS ONE |
| Publisher: | PUBLIC LIBRARY SCIENCE |
| Additional Information: | Copy right for this article belongs to the PUBLIC LIBRARY SCIENCE, 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA |
| Department/Centre: | Division of Biological Sciences > Centre for Neuroscience |
| Date Deposited: | 24 Sep 2015 07:11 |
| Last Modified: | 24 Sep 2015 07:11 |
| URI: | http://eprints.iisc.ac.in/id/eprint/52442 |
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