Phenotypes Associated with This Genotype

Genotype
MGI:3583677

• Allelic Composition: Gnas^tm4Lsw/Gnas⁺
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss * CD-1

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:99237 )

• when the allele is maternally inherited, about 50% of heterozygotes die before 3 weeks of age, mostly in the first 3 days after birth

homeostasis/metabolism

increased circulating leptin level ( J:99237 )

• when the allele is maternally inherited, serum leptin levels are 3-fold and more than 2-fold higher compared to wild-type and heterozygotes with a paternally inherited allele, respectively

• however, when the allele is paternally inherited, serum leptin levels are still increased compared to wild-type

increased circulating triglyceride level ( J:99237 )

• serum triglyceride levels are increased in heterozygotes with a maternally inherited allele compared to those with a paternally inherited allele

edema ( J:99237 )

• when the allele is maternally inherited, subcutaneous edema is present at birth but resolves by 1-2 days of age

decreased oxygen consumption ( J:99237 )

• when the allele is maternally inherited but not when it is paternally inherited, resting metabolism is significantly lower at 23 and 30 degrees C; however, serum TSH and free thyroxine levels are normal suggesting that thyroid function is not impaired

abnormal glucose homeostasis ( J:99237 )

increased circulating glucose level ( J:99237 )

• serum glucose levels are increased in heterozygotes with a maternally inherited allele compared to those with a paternally inherited allele

increased circulating insulin level ( J:99237 )

• when the allele is paternally inherited, serum insulin but not serum glucose levels are elevated compared to wild-type mice

• serum insulin levels are increased in heterozygotes with a maternally inherited allele compared to levels in heterozygotes with a paternally inherited allele

impaired glucose tolerance ( J:99237 )

• glucose tolerance is impaired in random-fed mice when the allele is maternally or paternally inherited

insulin resistance ( J:99237 )

• insulin resistance is seen when the allele is maternally or paternally inherited, although the insulin resistance is more severe when the allele is maternally inherited

adipose tissue

abnormal adipose tissue morphology ( J:99237 )

• when the allele is maternally inherited, increased lipid accumulation is seen in the white and brown fat

increased brown adipose tissue amount ( J:99237 )

• when the allele is paternally inherited, total body weight is normal but the brown fat weight is increased

increased white adipose tissue amount ( J:99237 )

• when the allele is paternally inherited, total body weight is normal but the white fat pad weight is increased

increased total body fat amount ( J:99237 )

• when the allele is maternally inherited, fat mass is increased about 2-fold

increased interscapular fat pad weight ( J:99237 )

• when the allele is paternally inherited, greater lipid accumulation is seen in both the brown and white fat in the interscapular fat pad

growth/size/body

obese ( J:99237 )

• when the allele is maternally inherited, body weight is increased by about 20%; however, when the allele is paternally inherited, body weight is not significantly different from wild-type

cellular

paternal imprinting ( J:99237 )

• heterozygotes inheriting the allele from the mother display a more severe phenotype