title: Generation of mice with a conditional allele for G6pc.
abstract: Glucose-6-phosphatase-alpha (G6Pase-alpha or G6PC) catalyzes the hydrolysis of glucose-6-phosphate to glucose and is a key enzyme in interprandial glucose homeostasis. Mutations in the human G6PC gene, expressed primarily in the liver, kidney, and intestine, cause glycogen storage disease Type Ia (GSD-Ia), an autosomal recessive disorder characterized by a disturbed glucose homeostasis. For better understanding of the roles of G6Pase-alpha in different tissues and in pathological conditions, we have generated mice harboring a conditional null allele for G6pc by flanking Exon 3 of the G6pc gene with loxP sites. We confirmed the null phenotype by using the EIIa-Cre transgenic approach to generate mice lacking Exon 3 of the G6pc gene. The resulting homozygous Cre-recombined null mice manifest a phenotype mimicking G6Pase-alpha-deficient mice and human GSD-Ia patients. This G6pc conditional null allele will be valuable to examine the consequence of tissue-specific G6Pase-alpha deficiency and the mechanisms of long-term complications in GSD-Ia.
authors: Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
authors: Wen-Tao
authors: WT
authors: Peng
authors: Chi-Jiunn
authors: CJ
authors: Pan
authors: Eric J
authors: EJ
authors: Lee
authors: Heiner
authors: H
authors: Westphal
authors: Janice Y
authors: JY
authors: Chou
mesh_terms: D000483:Alleles; D000818:Animals; D001786:Blood Glucose; D002784:Cholesterol / Q000097:blood; D017931:DNA Primers / Q000235:genetics; D004195:Disease Models, Animal; D040461:Gene Components; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006706:Homeostasis / Q000235:genetics*; D019344:Lactic Acid / Q000097:blood; D051379:Mice; D008822:Mice, Transgenic; D010641:Phenotype; D016133:Polymerase Chain Reaction; D014280:Triglycerides / Q000097:blood; D014527:Uric Acid / Q000097:blood
chemical_list: D001786:Blood Glucose; D017931:DNA Primers; D014280:Triglycerides; D014527:Uric Acid; D019344:Lactic Acid; D002784:Cholesterol; D005952:Glucose-6-Phosphatase