Publication in detail

Glycobiology 2012 Oct 31. [Epub ahead of print]

A phenotype survey of thirty-six mutant mouse strains with gene targeted defects in glycosyltransferases or glycan-binding proteins.

Orr, SL; Le, D; Long, JM; Sobieszczuk, P; Ma, B; Tian, H; Fang, X; Paulson, JC; Marth, JD; Varki, N

Department of Pathology, University of California, San Diego, La Jolla, CA 92093-0687, USA.

Abstract:
The Consortium for Functional Glycomics (CFG) was a large research initiative providing networking and resources for investigators studying the role of glycans and glycan-binding proteins in health and disease. Starting in 2001, six scientific cores were established to generate data, materials, and new technologies. By the end of funding in 2011, the Mouse Phenotype Core (MPC) submitted data to a website from the phenotype screen of thirty-six mutant mouse strains deficient in a gene for either a glycan-binding protein (GBP) or glycosyltransferase (GT). Each mutant strain was allotted three months for analysis and screened by standard phenotype assays used in the fields of immunology, histology, hematology, coagulation, serum chemistry, metabolism, and behavior. Twenty of the deficient mouse strains had been studied in other laboratories, and additional tests were performed on these strains to confirm previous observations and discover new data. The CFG constructed sixteen new homozygous mutant mouse strains and completed the initial phenotype screen of the majority of these new mutant strains. In total more than three hundred phenotype changes were observed, but considering the over one hundred assays performed on each strain, most of the phenotypes were unchanged. Phenotype differences include abnormal testis morphology in GlcNAcT9 and Siglec-H deficient mice, and lethality in Pomgnt1 deficient mice. The numerous altered phenotypes discovered, along with the consideration of the significant findings of normality, will provide a platform for future characterization to understand of the important role of glycans and GBPs in the mechanisms of health and disease.

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