behavior/neurological
• decreased conditioned fear memory recall (reduced freezing) in paired tone and foot shock test
|
• decreased conditioned fear memory recall (reduced freezing) in paired tone and foot shock test
|
• normal startle reflex when presented with electric foot shock or audio tones
|
• reduced latency to fall in rotarod test at age 5.5 months
|
• altered gait symmetry (reduced synchronization of strides) at age 5.5 months; most pronounced in rear limbs
• normal at age P45
|
• slow stride with reduced stride width at age 5.5 months; most pronounced in rear limbs
• normal at age P45
|
• at age 5.5 months; most pronounced in rear limbs
• normal at age P45
|
cellular
• larger early endosomes and lysosomes in cultured cortical neurons from newborn mice
• fewer lysosomes in cultured cortical neurons from newborn mice
• lipofuscin accumulation in lysosomal residual bodies in primary motor cortex neurons at age 7 months
• normal number of early endosomes in cultured cortical neurons from newborn mice
|
• in motor cortex at age 10 months
• normal apoptosis in motor cortex at age P42
|
• increased levels of lysosomal cathepsin proteases and lysosomal hydrolases in brain
|
homeostasis/metabolism
• increased levels of chaperones in ER in brain
• decreased levels of post-synaptic proteins in brain synapses
|
nervous system
• in motor cortex at age 10 months
• normal apoptosis in motor cortex at age P42
|
• fewer excitatory synapses in adult brain
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Wiskott-Aldrich syndrome | DOID:9169 |
OMIM:301000 |
J:303795 |