JAX Mouse Model Development

Building on the haploinsufficient ZTTK mouse originally developed by the Ahn lab, this collaboration with Jackson Laboratory is creating additional mouse models that more precisely recapitulate specific human SON mutations. Multiple model variants enable researchers to study genotype-phenotype correlations and test whether different mutation types respond differently to potential treatments.

Jackson Laboratory brings decades of expertise in mouse genetics and phenotyping, combined with infrastructure for distributing validated models to the global research community. Mice developed through this partnership will be made available through the JAX repository, ensuring long-term accessibility for academic and industry researchers.

Published research on the initial Ahn lab haploinsufficient mouse has already demonstrated organ development defects and hematopoietic abnormalities, providing the first in vivo evidence of how SON loss-of-function affects mammalian development.