This technology is a genetically engineered mouse model carrying a patient-specific SSBP1 mutation with a conditional knockout allele that enables the study of cell-type-specific mechanisms of autosomal-dominant optic atrophy and retinal degeneration.
Autosomal-dominant optic atrophy-13 (OPA13) is characterized by decreased visual perception and retinal degeneration, yet the specific triggering factors remain unclear. Current research often relies on zebrafish models; however, these models have produced conflicting findings regarding whether pathogenic variants result in haploinsufficiency or dominant-negative effects. There is a critical need for a physiologically relevant mammalian system to resolve these mechanistic discrepancies and enable the investigation of retinal ganglion cell and photoreceptor abnormalities.
This technology is a genetically engineered mouse model that contains a Ssbp1 knock-in allele that converts arginine (R) 107 to glutamine (Q), replicating a common variant found in human OPA13 patients. The mutation is flanked by loxP sites (floxed), allowing researchers to delete or activate the mutant allele in specific cell types when crossed with Cre recombinase driver lines. This conditional design enables investigation of whether the R107Q variant causes disease through haploinsufficiency or dominant-negative mechanisms, and allows researchers to determine which retinal cell populations are critical for disease progression.
This technology has been validated through optical coherence tomography and electroretinography studies in mice.
IR CU26140
Licensing Contact: Kristin Neuman
