Analysis Tools
reproductive system
| N |
• oogenesis is normal
|
 |
• reduced 40%
|
|
|
• by 30%
|
|
|
• as early as 2 months and persisting up to 15 months, mice exhibit a reduction in sperm compared to in wild-type mice
• however, this phenotype is rescued in double transgenic mice expressing the wild-type protein
|
|
• as early as 2 months and persisting up to 15 months
(J:155748)
|
cellular
|
|
• as early as 2 months and persisting up to 15 months, mice exhibit a reduction in sperm compared to in wild-type mice
• however, this phenotype is rescued in double transgenic mice expressing the wild-type protein
|
|
|
• reduced 40%
|
nervous system
microgliosis
(
J:155748
)
|
• mice exhibit loss of pancreatic neurites unlike wild-type mice
|
|
• mice exhibit a loss of larger caliber axons in the ventral and dorsal roots of the lumbar region of the spinal cord compared with wild-type mice
• however, no axonal spheroids are detected
|
|
• thinning in large axons of the ventral, but not dorsal, roots
(J:106812)
• at 15 months, myelinated axons exhibit a reduced diameter compared with wild-type axons
(J:155748)
|
|
• at 14 months, mice exhibit small fiber sensory neuropathy unlike wild-type mice
• at 15 months, mice exhibit a loss of small unmyelinated axons in the sciatic nerve unlike wild-type mice
• mice exhibit mixed motor-sensory large and small fiber degeneration unlike wild-type mice
• however, axon morphology is normal in double transgenic mice expressing the wild-type protein
|
|
• the cross-sectional area of the lumbar ventral roots of the spine is decreased compared to in wild-type mice
|
digestive/alimentary system
|
• as early as 4 months of age, mice exhibit exocrine pancreas atrophy unlike wild-type mice
|
|
• mice exhibit decreased fecal production compared with wild-type mice
|
|
• the distance traveled by a bolus is shorter than in wild-type mice
|
behavior/neurological
|
• when suspended by their tails, mice exhibit rapid hind leg kicking and distinctive extension of hind legs parallel to the tail unlike similarly treated wild-type mice
• at 6 to 8 months, mice exhibit hyperkinesis with increased leg kicking compared with wild-type mice
• however, motor performance is otherwise normal
|
|
• at 14 months on a rotarod
|
hyperalgesia
(
J:155748
)
|
• mice exhibit hyperpathy at 14 months
• however, this phenotype is rescued in double transgenic mice expressing the wild-type protein
|
|
• in older mice
|
growth/size/body
|
• mice are 15% to 20% smaller than wild-type mice
• mice are smaller at 1 month of age and this size difference continues until sacrifice at 10 months of age
|
limbs/digits/tail
| N |
• unlike patients with HSAN1, mice do not exhibit ulcerative mutilations
|
endocrine/exocrine glands
|
• mice exhibit loss of pancreatic neurites unlike wild-type mice
|
|
• as early as 4 months of age, mice exhibit exocrine pancreas atrophy unlike wild-type mice
|
|
|
• by 30%
|
hematopoietic system
microgliosis
(
J:155748
)
immune system
microgliosis
(
J:155748
)
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| hereditary sensory neuropathy | DOID:0050548 |
OMIM:PS162400 |
J:106812 | |
