Article
Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism.
Human molecular genetics - 1 Mar 1999
Oike Y, Hata A, Mamiya T, Kaname T, Noda Y, Suzuki M, Yasue H, Nabeshima T, Araki K, Yamamura K
Abstract excerpt
A mouse model of Rubinstein-Taybi syndrome (RTS) was generated by an insertional mutation into the cyclic AMP response element-binding protein (CREB)-binding protein (CBP) gene. Heterozygous CBP-deficient mice, which had truncated CBP protein (residues 1-1084) containing the CREB-binding domain (...
Topics
- Animals
- Base Sequence
- Behavior, Animal
- CREB-Binding Protein
- DNA Primers
- Disease Models, Animal
- Female
- Genes, Dominant
- Heterozygote
- Humans
- Male
- Memory
- Mice
- Mice, Mutant Strains
- Motor Activity
- Mutagenesis, Insertional