Affected Systems |
|
|
|
|
|
|
behavior/neurological
|
N
|
|
|
|
|
behavior/neurological phenotype
|
N
|
|
|
|
|
cellular
|
√
|
√
|
√
|
|
|
increased macrophage apoptosis
|
|
√
|
|
|
|
decreased retina apoptosis
|
√
|
|
|
|
|
increased retina apoptosis
|
|
|
√
|
|
|
craniofacial
|
√
|
√
|
√
|
|
|
craniofacial phenotype
|
N
|
|
|
|
|
failure of tooth eruption
|
√
|
√
|
√
|
|
|
tooth impaction
|
|
√
|
|
|
|
absent teeth
|
|
√
|
√
|
|
|
short snout
|
|
√
|
|
|
|
endocrine/exocrine glands
|
|
√
|
|
|
|
abnormal thymus size
|
|
√
|
|
|
|
decreased thymocyte number
|
|
√
|
|
|
|
growth/size/body
|
√
|
√
|
√
|
|
|
failure of tooth eruption
|
√
|
√
|
√
|
|
|
tooth impaction
|
|
√
|
|
|
|
absent teeth
|
|
√
|
√
|
|
|
short snout
|
|
√
|
|
|
|
decreased body size
|
√
|
|
√
|
|
|
decreased body weight
|
|
√
|
|
|
|
decreased fetal size
|
√
|
|
|
|
|
hematopoietic system
|
√
|
√
|
√
|
|
|
abnormal thymus size
|
|
√
|
|
|
|
decreased thymocyte number
|
|
√
|
|
|
|
decreased double-positive T cell number
|
|
√
|
|
|
|
decreased B cell number
|
|
√
|
|
|
|
increased T cell number
|
|
√
|
|
|
|
decreased osteoclast cell number
|
√
|
|
√
|
|
|
abnormal spleen morphology
|
|
√
|
|
|
|
abnormal spleen white pulp morphology
|
|
√
|
|
|
|
decreased splenocyte number
|
|
√
|
|
|
|
abnormal macrophage physiology
|
|
√
|
|
|
|
increased macrophage apoptosis
|
|
√
|
|
|
|
increased macrophage cytokine production
|
|
√
|
|
|
|
immune system
|
√
|
√
|
√
|
|
|
abnormal thymus size
|
|
√
|
|
|
|
decreased thymocyte number
|
|
√
|
|
|
|
decreased double-positive T cell number
|
|
√
|
|
|
|
decreased B cell number
|
|
√
|
|
|
|
increased T cell number
|
|
√
|
|
|
|
decreased osteoclast cell number
|
√
|
|
√
|
|
|
abnormal spleen morphology
|
|
√
|
|
|
|
abnormal spleen white pulp morphology
|
|
√
|
|
|
|
decreased splenocyte number
|
|
√
|
|
|
|
abnormal macrophage physiology
|
|
√
|
|
|
|
increased macrophage apoptosis
|
|
√
|
|
|
|
increased macrophage cytokine production
|
|
√
|
|
|
|
abnormal cytokine secretion
|
|
√
|
|
|
|
increased susceptibility to bacterial infection
|
|
√
|
|
|
|
limbs/digits/tail
|
|
√
|
|
|
|
short limbs
|
|
√
|
|
|
|
mortality/aging
|
√
|
|
|
|
|
perinatal lethality, incomplete penetrance
|
√
|
|
|
|
|
muscle
|
|
|
|
√
|
√
|
increased rhabdomyosarcoma incidence
|
|
|
|
√
|
√
|
neoplasm
|
|
|
|
√
|
√
|
increased rhabdomyosarcoma incidence
|
|
|
|
√
|
√
|
reproductive system
|
|
√
|
|
|
|
transmission ratio distortion
|
|
√
|
|
|
|
skeleton
|
√
|
√
|
√
|
√
|
|
skeleton phenotype
|
N
|
|
|
|
|
failure of tooth eruption
|
√
|
√
|
√
|
|
|
tooth impaction
|
|
√
|
|
|
|
absent teeth
|
|
√
|
√
|
|
|
decreased osteoclast cell number
|
√
|
|
√
|
|
|
abnormal long bone epiphyseal plate proliferative zone
|
|
√
|
|
|
|
abnormal long bone hypertrophic chondrocyte zone
|
|
√
|
|
|
|
abnormal long bone epiphysis morphology
|
|
√
|
|
|
|
abnormal long bone metaphysis morphology
|
|
√
|
|
|
|
abnormal bone marrow cavity morphology
|
√
|
√
|
√
|
|
|
abnormal compact bone morphology
|
|
√
|
|
|
|
abnormal compact bone thickness
|
|
√
|
|
|
|
increased bone trabecula number
|
|
√
|
|
|
|
osteopetrosis
|
√
|
√
|
√
|
√
|
|
vision/eye
|
√
|
|
√
|
|
|
decreased retina apoptosis
|
√
|
|
|
|
|
increased retina apoptosis
|
|
|
√
|
|
|