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Title: Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality
Authors: Thiel, Christian ×
Lübke, Torben
Matthijs, Gert
von Figura, Kurt
Körner, Christian #
Issue Date: Aug-2006
Publisher: American Society for Microbiology (ASM)
Series Title: Molecular and Cellular Biology vol:26 issue:15 pages:5615-5620
Abstract: Mutations in the cytosolic enzyme phosphomannomutase 2 (PMM2), which catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate, cause the most common form of congenital disorders of glycosylation, termed CDG-Ia. It is an inherited multisystemic disease with severe neurological impairment. To study the pathophysiology of CDG-Ia and to investigate possible therapeutic approaches, we generated a mouse model for CDG-Ia by targeted disruption of the Pmm2 gene. Heterozygous mutant mice appeared normal in development, gross anatomy, and fertility. In contrast, embryos homozygous for the Pmm2-null allele were recovered in embryonic development at days 2.5 to 3.5. These results indicate that Pmm2 is essential for early development of mice. Mating experiments of heterozygous mice with wild-type mice could further show that transmission of the female Pmm2-null allele is impaired.
URI: 
ISSN: 0270-7306
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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