Article
A novel missense mutation in the mouse growth hormone gene causes semidominant dwarfism, hyperghrelinemia, and obesity.
Endocrinology - 1 May 2004
Meyer Carola W E, Korthaus Dirk, Jagla Wolfgang, Cornali Emmanuelle, Grosse Johannes, Fuchs Helmut, Klingenspor Martin, Roemheld Stephanie, Tschöp Matthias, Heldmaier Gerhard, De Angelis Martin Hrabé, Nehls Michael
Abstract excerpt
The SMA1-mouse is a novel ethyl-nitroso-urea (ENU)-induced mouse mutant that carries an a-->g missense mutation in exon 5 of the GH gene, which translates to a D167G amino acid exchange in the mature protein. Mice carrying the mutation are characterized by dwarfism, predominantly due to the reduction (sma1/+) or absence (sma1/sma1) of the GH-mediated peripubertal growth spurt, with sma1/+ mice displaying a less...
Topics
- Adipose Tissue
- Amino Acid Sequence
- Animals
- Body Composition
- Body Weight
- Dwarfism
- Exons
- Female
- Fertility
- Genetic Linkage