The Crebbp gene encodes the CREB binding protein and the Ep300 gene encodes the E1A binding protein p300, both of which are highly conserved coactivators that promote transcription and are important to the function of many hematopoietic transcription factors. These CBPdeltaCH1 mutant mice carry an in-frame 52 amino acid deletion within the conserved 88 residue CH1 domain of the Crebbp gene. This mutation disrupts the ability of the CREB binding protein to bind transcriptional regulators. On the C57BL/6 congenic backgrounds homozygotes die after birth. Heterozygotes are viable and fertile on the C57BL/6 congenic background. Homozygotes on the C57BL/6 X 129 F1 hybrid background exhibit smaller size, moderate craniofacial anomalies (blunt snout), improved glucose tolerance and insulin sensitivity, as well as repetitive forelimb rubbing (limb grasping) & repetitive grooming behavior, hyperactivity and reduced anxiety. The F1 hybrids are models for Rubinstein-Taybi Syndrome and Autism Spectrum Disorders. RT-PCR confirms the correct splicing of the RNA (that would produce the deletion in the CH1 domain) in mutant MEFs. Expression of the mutant protein is similar to wild type protein when compared between wild type and homozygous mutant MEFs.

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This CBPdeltaCH1 mutant strain carries a deletion mutation in the exon encoding the CH1 domain of the Crebbp gene, resulting in the disruption in the ability of the CREB binding protein to bind transcriptional regulators. This strain may be useful in studies of transcriptional regulation and Autism Spectrum Disorders.

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