RGD Reference Report - Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. - Rat Genome Database
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Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.

Authors: Brites, Pedro  Motley, Alison M  Gressens, Pierre  Mooyer, Petra A W  Ploegaert, Ingrid  Everts, Vincent  Evrard, Philippe  Carmeliet, Peter  Dewerchin, Mieke  Schoonjans, Luc  Duran, Marinus  Waterham, Hans R  Wanders, Ronald J A  Baes, Myriam 
Citation: Brites P, etal., Hum Mol Genet. 2003 Sep 15;12(18):2255-67. Epub 2003 Jul 15.
RGD ID: 13208515
Pubmed: (View Article at PubMed) PMID:12915479
DOI: Full-text: DOI:10.1093/hmg/ddg236

Rhizomelic chondrodysplasia punctata is a human autosomal recessive disorder characterized by skeletal, eye and brain abnormalities. The disorder is caused by mutations in the PEX7 gene, which encodes the receptor for a class of peroxisomal matrix enzymes. We describe the generation and characterization of a Pex7 mouse knockout (Pex7(-/-)). Pex7(-/-) mice are born severely hypotonic and have a growth impairment. Mortality in Pex7(-/-) mice is highest in the perinatal period although some Pex7(-/-) mice survived beyond 18 months. Biochemically Pex7(-/-) mice display the abnormalities related to a Pex7 deficiency, i.e. a severe depletion of plasmalogens, impaired alpha-oxidation of phytanic acid and impaired beta-oxidation of very-long-chain fatty acids. In the intermediate zone of the developing cerebral cortex Pex7(-/-) mice have an increase in neuronal density. In vivo neuronal birthdating revealed that Pex7(-/-) mice have a delay in neuronal migration. Analysis of bone ossification in newborn Pex7(-/-) mice revealed a defect in ossification of distal bone elements of the limbs as well as parts of the skull and vertebrae. These findings demonstrate that Pex7 knockout mice provide an important model to study the role of peroxisomal functioning in the pathogenesis of the human disorder.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Pex7  (peroxisomal biogenesis factor 7)

Genes (Mus musculus)
Pex7  (peroxisomal biogenesis factor 7)

Genes (Homo sapiens)
PEX7  (peroxisomal biogenesis factor 7)


Additional Information