References
Query Results -- Details
MGI Accession ID: MGI:3776345
J Number: J:132599
Other Accession IDs:
Title: A genetic interaction between the APP and Dab1 genes influences brain development.
Authors: Pramatarova A; Chen K; Howell BW
Journal: Mol Cell Neurosci
Volume: 37
Issue: 1
Date: 2008 Jan
Year: 2008
Pages: 178-86
Review Status: Peer Reviewed
Abstract:
The Dab1 docking protein is required for the proper organization of brain laminae and for a signal transduction pathway initiated by Reelin binding to the ApoER2 and VLDLR receptors on the cell surface of neurons. Dab1 physically interacts with APP; however, it is not known whether the APP gene influences Dab1 function. Here we demonstrate a genetic interaction between Dab1 and APP. Dab1-hypomorphic animals have neuronal ectopias in the neocortex and reduced cerebellar volume, possibly a consequence of Purkinje cell misplacement. These phenotypes are exacerbated in transgenic animals overexpressing a mutant form of APP, APP(swe), which is characterized by increased processing at the beta-secretase site. The Dab1-hypomorphic phenotype is improved in the cerebellum of animals that are deficient for APP. Together this suggests that APP expression constrains the consequences of Dab1 activity during brain development.
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