Table 1. Comparison of phenotypes of Lrrk1 deficiency between humans and mice.
| Phenotypes | Deficiency of Lrrk1 in humans | Deficiency of Lrrk1 in mice |
|---|---|---|
| Facial features | Normal | Normal |
| Body length | Reduced | Reduced |
| Bone marrow cavities | Reduced | Reduced |
| BMD | Increased | Increased |
| Hearing problems | (−) | No data |
| Mental retardation | (−) | No data |
| Epilepsy | (−) | No data |
| Fracture susceptibility | (−) | No data |
| Hypotonia | (+)a | (−) |
| Skull bone density | Normal, measured by X-ray radiography | Mild increased, measured by micro-CT |
| Vertebral endplates | Sclerosis | Sclerosis |
| Rib costal ends | Normal | Normal |
| Pelvis bone | Marginal Sclerosis | Marginal Sclerosis |
| Long and short tubular bones | Epiphysis, metaphysis sclerosis, and under-modeling | Epiphysis, metaphysis sclerosis, and under-modeling |
| Cortical bone density | Normal, measured by X-ray radiography | Slightly increased, measured by micro-CT |
BMD, bone mineral density; Lrrk1, leucine-rich repeat kinase 1.
Complicated by Duchenne muscular dystrophy.