Phenotypes Associated with This Genotype

Genotype
MGI:4418522

• Allelic Composition: Psap^tm3.1Ggb/Psap^tm3.1Ggb
• Genetic Background: involves: 129S/SvEv * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

decreased anxiety-related response ( J:155864 )

• mice spend longer times in open areas than wild-type and concurrently have fewer open area entries

limb grasping ( J:155864 )

• abnormal leg reflexes beginning around 10 - 12 months of age

ataxia ( J:155864 )

• develops after 12 months of age

impaired coordination ( J:155864 )

• mice exhibit a significant increases in latency and foot slips on round and square beams, that increase with age, on the narrow bridges test

• all fail to cross a 5 mm wide square beam, unlike wild-type controls that all successfully cross

impaired limb coordination ( J:155864 )

• progressive wobbling beginning around 10 - 12 months of age

increased vertical activity ( J:155864 )

• vertical activity is increased within a 60 min period

• however, horizontal activity is not different

hindlimb paralysis ( J:155864 )

• show hind paw spreading at 16 months of age suggesting paralysis

paraparesis ( J:155864 )

• hind limb weakness beginning around 10 - 12 months of age

nervous system

abnormal hippocampus granule cell layer ( J:155864 )

• granule cell atrophy, precedes Purkinje cell loss

decreased Purkinje cell number ( J:155864 )

• Purkinje cell loss is evident in the cerebellum at 2 months of age and progresses chronologically from lobule III to X

• by 24 months Purkinje cells are absent in lobules III to VIII

small cerebellum ( J:155864 )

• evident in mice over 20 months of age

astrocytosis ( J:155864 )

• in spinal cord, brainstem, hindbrain, cerebellum and thalamic regions as measured by GFAP staining

abnormal innervation ( J:155864 )

• at 18 months of age, axonal processes in spinal cord, brainstem, midbrain, cortex, hippocampus, cerebellum and sciatic nerve contain electron-dense complex membrane whirl inclusions

• more neuronal processes containing inclusions are observed at 18 or 22 months of age than at 10 months of age

abnormal axon morphology ( J:155864 )

• at 18 months of age, axonal processes in spinal cord, brainstem, midbrain, cortex, hippocampus, cerebellum and sciatic nerve contain electron-dense complex membrane whirl inclusions

• more neuronal processes containing inclusions are observed at 18 or 22 months of age than at 10 months of age

abnormal dorsal root ganglion morphology ( J:155864 )

• foamy storage material in the dorsal root ganglion starting at 25 weeks of age

axonal spheroids ( J:155864 )

• large axonal spheroids after 6 months of age

demyelination ( J:155864 )

• the sciatic nerve exhibits inclusion bodies and a degenerating myelin layer at 18 months of age

reduced long-term potentiation ( J:155864 )

• in the hippocampus at 24 months of age, but not at 4 months of age