RGD Reference Report - Ectopic clustering of Cajal-Retzius and subplate cells is an initial pathological feature in Pomgnt2-knockout mice, a model of dystroglycanopathy. - Rat Genome Database
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Ectopic clustering of Cajal-Retzius and subplate cells is an initial pathological feature in Pomgnt2-knockout mice, a model of dystroglycanopathy.

Authors: Nakagawa, N  Yagi, H  Kato, K  Takematsu, H  Oka, S 
Citation: Nakagawa N, etal., Sci Rep. 2015 Jun 10;5:11163. doi: 10.1038/srep11163.
RGD ID: 11532770
Pubmed: (View Article at PubMed) PMID:26060116
DOI: Full-text: DOI:10.1038/srep11163

Aberrant glycosylation of dystroglycan causes congenital muscular dystrophies associated with cobblestone lissencephaly, classified as dystroglycanopathy. However, pathological features in the onset of brain malformations, including the precise timing and primary cause of the pial basement membrane disruption and abnormalities in the migration of pyramidal neurons, remain unexplored. Using the Pomgnt2-knockout (KO) mouse as a dystroglycanopathy model, we show that breaches of the pial basement membrane appeared at embryonic day 11.5, coinciding with the ectopic clustering of Cajal-Retzius cells and subplate neurons and prior to the migration onset of pyramidal neurons. Furthermore, in the Pomgnt2-KO cerebral cortex, preplate splitting failure likely occurred due to the aggregation of Cajal-Retzius and subplate cells, and migrating pyramidal neurons lost polarity and radial orientation. Our findings demonstrate the initial pathological events in dystroglycanopathy mice and contribute to our understanding of how dystroglycan dysfunction affects brain development and progresses to cobblestone lissencephaly.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Pomgnt2  (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-))

Genes (Mus musculus)
Pomgnt2  (protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2)

Genes (Homo sapiens)
POMGNT2  (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-))


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