Fig 4. A predictive model to rank mouse mutations aligned with attenuated disease for validation studies.

[A] WMMS (mouse, and human, hWMMS) ranking criteria for inclusion in predictive model. [B] Top 7 most prevalent attenuated mutations in NKH patients and correspondence position in mouse Gldc. [C] Mouse mutation, corresponding mWMMS and hWMMS of human counterparts [D] Predictive Ranking. SCORE A was assigned based difference in WMMS from the most severe attenuated mutation A807V. SCORE B was assigned based on the difference in WMMS between the mouse and human scores. Ranks were assigned based on the highest sum of SCORE A and SCORE B leading to the selection of A394V to be forwarded for in vivo validation.