Table 3.
Nonvascular phenotypes from murine models of CBS deficiency
| References | |
|---|---|
| Nervous system | |
| cbs−/− | |
| Impaired long-term potentiation (increased excitatory postsynaptic potential slopes) in hippocampal tissue | 45 |
| Skeletal system | |
| cbs−/− | |
| Shorter hindlimbs | 135 |
| cbs+/− | |
| Kyphoscoliosis | 135 |
| Temporal shortening of long bones due to impaired cartilage differentiation | 135 |
| Reproductive system | |
| cbs−/− | |
| Infertility | 52 |
| Altered estrus cycle | 52 |
| Increased progesterone response during pseudopregnancy induction | 52 |
| Occular system | |
| cbs−/− | |
| Delayed and narrow eye openings; however, no histological abnormalities | 173 |
| Respiratory system | |
| cbs−/− | |
| Lung fibrosis and air space enlargement | 54 |
| Increased heme oxygenase-1, pro(α)1-collagen type I, transforming growth factor-β1, and α-smooth muscle actin | |
| Skin | |
| cbs−/− | |
| Wrinkled skin | 134 |
| Hyperkeratosis | 134 |
| Dermal thinning | 134 |