Collection of mouse strains carrying patient mutations

Several unpublished mouse lines carrying DHPS disease variants are in the process of being deposited at Jax as cryopreserved lines. These lines have been generated by Dr. Wendy Chung and Dr. Teresa Mastracci, and are available for interested scientists upon request to Dr. Mastracci at IU.

Dr. Mastracci’s collection includes three lines carrying patient mutations in the DHPS mouse gene as well as a humanized strain and the corresponding mutant likes over the humanized DHPS gene:

• DHPS-mouse missense N173S
• DHPS-mouse splice 1014+1G>A
• DHPS-mouse deletion Ile306del
• DHPS-humanized WT
• DHPS-humanized missense N173S
• DHPS-humanized splice 1014+1G>A
• DHPS-humanized deletion Ile306del