Phenotypes Associated with This Genotype

Genotype
MGI:3575305

• Allelic Composition: Gnas^tm2.1Lsw/Gnas⁺
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

decreased circulating parathyroid hormone level ( J:97229 )

• mice heterozygous for the paternally inherited allele exhibit lower serum parathyroid hormone levels

decreased circulating phosphate level ( J:97229 )

• mice heterozygous for the paternally inherited allele exhibit lower serum phosphorus levels

abnormal response/metabolism to endogenous compounds ( J:97229 )

• mice heterozygous for the paternally inherited allele exhibit increased parathyroid hormone sensitivity

cellular

maternal imprinting ( J:97229 )

• mice heterozygous for the maternally inherited allele exhibit no defects while mice heterozygous for the paternally inherited allele exhibit increased sensitivity to parathyroid hormone, lower serum parathyroid hormone levels, lower serum phosphorus, and increased G_salpha expression in tissues such as proximal tubules where it is normally imprinted