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…·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.