Availability: Live colony
Zygosity genotype: Homozygous (Females) / Hemizygous (Males)
This model contains a deletion of the Fragile X mental retardation 1 gene (Fmr1). Mutations in Fmr1 result in Fragile X syndrome, the leading monogenic cause of autism, making this rat useful for the study of both Fragile X syndrome and autism.
The X-linked gene Fmr1 produces the fragile X metal retardation protein, or FMRP. FMRP is essential for normal mental development. An expansion of the trinucleotide CGG repeat in the Fmr1 gene is responsible for fragile X syndrome, a syndrome characterized by autism and mental disability.
The Fmr1 KO rat model was originally created at SAGE Labs, Inc. in St. Louis, MO and distributed out of the Boyertown, PA facility. The line continues to be maintained through the original SAGE Labs animal inventory acquired by Envigo.