| hm | homozygous | ht | heterozygous | tg | involves transgenes | √ | phenotype observed |
| cn | conditional genotype | cx | complex: > 1 genome feature | ot | other: hemizygous, indeterminate,... | N | normal phenotype |
Background:
| Affected Systems | |
|---|---|
behavior/neurological
|
√ |
|
increased startle reflex
|
√ |
|
ataxia
|
√ |
|
impaired coordination
|
√ |
|
decreased grip strength
|
√ |
|
abnormal gait
|
√ |
|
cellular
|
√ |
|
increased macrophage derived foam cell number
|
√ |
|
sphingomyelinosis
|
√ |
|
abnormal cellular cholesterol metabolism
|
√ |
|
abnormal astrocyte physiology
|
√ |
|
increased microglial cell activation
|
√ |
|
growth/size/body
|
√ |
|
weight loss
|
√ |
|
enlarged liver
|
√ |
|
enlarged spleen
|
√ |
|
hematopoietic system
|
√ |
|
increased macrophage derived foam cell number
|
√ |
|
increased microglial cell activation
|
√ |
|
enlarged spleen
|
√ |
|
homeostasis/metabolism
|
√ |
|
abnormal cellular cholesterol metabolism
|
√ |
|
abnormal lipid level
|
√ |
|
sphingomyelinosis
|
√ |
|
increased brain cholesterol level
|
√ |
|
decreased liver cholesterol level
|
√ |
|
increased liver cholesterol level
|
√ |
|
immune system
|
√ |
|
increased macrophage derived foam cell number
|
√ |
|
increased microglial cell activation
|
√ |
|
enlarged spleen
|
√ |
|
liver/biliary system
|
√ |
|
enlarged liver
|
√ |
|
decreased liver cholesterol level
|
√ |
|
increased liver cholesterol level
|
√ |
|
mortality/aging
|
√ |
|
lethality, incomplete penetrance
|
√ |
|
premature death
|
√ |
|
nervous system
|
√ |
|
abnormal astrocyte physiology
|
√ |
|
increased microglial cell activation
|
√ |
|
increased brain cholesterol level
|
√ |
|
Purkinje cell degeneration
|
√ |
|
decreased prepulse inhibition
|
√ |
|
reproductive system
|
√ |
|
reduced fertility
|
√ |
