Phenotypes associated with this allele

• Allele Symbol: Gnas^tm2.1Lsw
• Allele Name: targeted mutation 2.1, Lee S Weinstein
• Allele ID: MGI:3043369
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gnas^tm2.1Lsw/Gnas^tm2.1Lsw	involves: 129S6/SvEvTac * CD-1 * FVB/N	MGI:3716927
ht2	Gnas^tm2.1Lsw/Gnas^+	involves: 129S6/SvEvTac * Black Swiss	MGI:3575305

Genotype
MGI:3716927

hm1

• Allelic Composition: Gnas^tm2.1Lsw/Gnas^tm2.1Lsw
• Genetic Background: involves: 129S6/SvEvTac * CD-1 * FVB/N

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

cellular

cellular phenotype ( J:89923 )

N • methylation at Gnas is normal

Genotype
MGI:3575305

ht2

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

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