Table 1

Summary of Gnas cluster mouse methods

MutationInheritanceProtein(s) affectedPhenotypeReferences
NeonateAdult
Deletion of Gnas exon 1PaternalGsα (paternal)Normal body wt, normal metabolic rate, normal activity levels12, 25
MaternalGsα (maternal)Perinatal lethality, edemaSevere adiposity, ↓ metabolic rate, ↓ length, normal food intake12, 25
Deletion of Gnas exon 2PaternalGsα (paternal), XLαs, XLN1, ALEX?Perinatal lethality, poor suckling, ↓ adiposity, thin↓ Adiposity, ↑ metabolic rate, ↓ length, ↑ SNS activity68, 69
MaternalGsα (maternal)Perinatal lethality, edema, ↑ adiposity↑ Adiposity, ↓ metabolic rate, ↓ length, ↓ SNS activity68, 69
Deletion of Gnasxl exonPaternalXLαs, XLN1, ALEXPerinatal lethality, poor suckling, adiposity↓ Adiposity, ↑ metabolic rate, ↓ length, ↑ SNS activity48, 65
Duplication of distal chromosome 2 (paternal)NAaGsα (maternal), Nesp55, ↑ XLαs, XLN1, ALEX?Perinatal lethality, edema, wide body, hyperactivity, ↑ length (long bones)10, 62
Duplication of distal chromosome 2 (maternal)NAXLαs, XLN1, ALEX, ↑ Nesp55, GsαPerinatal lethality, no suckling, narrow body, hypoactivity10, 62
ENU point mutation of Gnas exon 6 (Oed/Sml)PaternalGsα (paternal), XLαsPrenatal lethality,b suckling unaffected, small body sizeAdiposity unaffected by high-fat diet, ↑ metabolic rate, small body size, ↓ wt, ↓ BMI11, 32
  • a NA, not applicable.

  • b S. Ball, unpublished data.