BxbI-mediated insertion of a 77kb human RET sensitive haplotype into the mouse genome to generate a humanized model of Hirschsprung disease
Ryan D. Fine, Benjamin E. Low, Jarod A. Rollins, Jon M. Laurent, Michael V. Wiles, Aamir R. Zuberi, Jef D. Boeke, Aravinda Chakravarti
This study inserts a human RET haplotype into mice to model Hirschsprung disease, finding that regulatory variants reduce RET expression and contribute to disease.
bioRxiv · Jul 6, 2026 · PreprintSynthetic Biology