As information pours in about genetic variants that heighten susceptibility to autism, the Simons Foundation Autism Research Initiative (SFARI) has turned its attention to a natural next step: developing and sharing mouse models for these genetic risk factors. With the Jackson Laboratory in Bar Harbor, Maine, SFARI is providing mouse models of several important autism-related mutations.
Mouse models provide an essential platform for studying the neural circuits underlying autism spectrum disorders. But while researchers are producing many interesting mouse models, these models are often not made widely available. Some researchers are reluctant to share their models, since their careers may depend on publishing studies that use them, and others are simply unwilling to expend the time and resources entailed in sending mice to other labs.
“It’s onerous for a lab to generate and ship a mouse model,” says Marta Benedetti, SFARI senior scientist.
What’s more, once a colony of mice has been shipped to a laboratory, it must typically be subjected to a lengthy quarantine.
To streamline this process, SFARI is providing funding to establish some of the mouse models most relevant to autism and to distribute these models to researchers. The Jackson Laboratory is widely trusted by research institutions, and its mice are typically not subject to quarantine.
The Jackson Laboratory, as a result of its partnership with SFARI, now stores six mouse models of autism risk factors: duplications and deletions in 16p11.2 and deletions in CNTNAP2, a model for Timothy syndrome and two models for Phelan-McDermid syndrome. Additional mouse models are in the planning stages. SFARI is partnering with the Dup15q Alliance, a philanthropic group, to provide funding for developing a mouse model for chromosome 15q duplication syndrome, which is linked to autism.
One advantage to centralizing the storage and distribution of mouse colonies, Benedetti says, is that each model is bred from just one strain of mice, eliminating the major variable of genetic background when comparing across mouse models. Currently, researchers use a variety of strains, which makes it harder to interpret research findings. Having uniform strains of autism mouse models should make it easier to figure out which signaling pathways or neural circuits are disrupted in autism, Benedetti says.
SFARI is encouraging investigators to share mice with the Jackson Laboratory even before publishing their mouse models, so the laboratory can be ready to distribute the mice immediately after publication. Now that SFARI has removed many of the logistical roadblocks to sharing mice, Benedetti hopes researchers will be even more forthcoming with their models.
“If you share, you’re a good member of the scientific community,” she says. “That’s how science goes —it wouldn’t progress if you didn’t share your reagents.”