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Molecular and Cellular Biology, August 2006, p. 5615-5620, Vol. 26, No. 15
0270-7306/06/$08.00+0     doi:10.1128/MCB.02391-05
Copyright © 2006, American Society for Microbiology. All Rights Reserved.

Targeted Disruption of the Mouse Phosphomannomutase 2 Gene Causes Early Embryonic Lethality

Christian Thiel,1* Torben Lübke,2 Gert Matthijs,3 Kurt von Figura,2 and Christian Körner1

Universitaetskinderklinik Heidelberg, Abteilung I, Friedrich Karls Universitaet Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg, Germany,1 Institut fuer Biochemie II, Georg-August-Universitaet Goettingen, Heinrich-Dueker-Weg 12, D-37073 Gottingen, Germany,2 University of Leuven, Center for Human Genetics, Herestraat 49, B-3000 Leuven, Belgium3

Received 15 December 2005/ Returned for modification 13 February 2006/ Accepted 2 March 2006

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.

* Corresponding author. Mailing address: Universitaetskinderklinik und Poliklinik, Abteilung Kinderheilkunde I, Im Neuenheimer Feld 153, D-69120 Heidelberg, Germany. Phone: 49(0)6221-564817. Fax: 49(0)6221-565565. E-mail: Christian.Thiel{at}med.uni-heidelberg.de.

Molecular and Cellular Biology, August 2006, p. 5615-5620, Vol. 26, No. 15
0270-7306/06/$08.00+0     doi:10.1128/MCB.02391-05
Copyright © 2006, American Society for Microbiology. All Rights Reserved.



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