mortality/aging
• mice with an intermediate phenotype (type 2) die at approximately 2-4 weeks
|
• mice with the most severe phenotype (type 1) die before P10
• mice with an intermediate phenotype (type 2) die at approximately 2-4 weeks
• mice with a mild phenotype (type 3) live a normal lifespan
|
nervous system
• presence of glial bundles observed in anterior spinal root of type 1 mice
|
• selective loss of thick myelinated fibers observed in anterior spinal root of type 1 mice
|
• loss of large motor neurons in anterior horns of spinal cord with appearance of empty cell beds
• phenotype is not observed in type 3 mice
|
chromatolysis
(
J:59313
)
• exhibited in motor neurons of anterior horn of type 1 mice
|
• exhibited in anterior spinal roots
• phenotype is not observed in type 3 mice
|
muscle
• decreased diameter of muscle fibers in tail
|
• atrophic fibers associated with hypertrophic type 1 fibers in type 1 mice
|
• fewer muscle fibers in trunk and limb muscles
|
• atrophy of muscle bundles in tail, trunk and limb muscles
|
limbs/digits/tail
• decreased diameter of muscle fibers, atrophy of muscle bundles, group atrophy and subcutaneous edema
• edema is more severe in type 3 than in type 2 mice and rare in type 1 mice
|
short tail
(
J:59313
)
• exhibited by mice with the type 3 phenotype
|
tail necrosis
(
J:59313
)
• 50% of type 1 and 2 mice develop chronic necrosis from the tip of the tail to the root
|
thick tail
(
J:59313
)
• exhibited by mice with the type 3 phenotype
|
homeostasis/metabolism
• subcutaneous edema of tail, most severe in type 3 mice and rare in type 1
• subcutaneous edema of hindlimbs
|
behavior/neurological
• exhibited in some type 2 mice
|
growth/size/body
• exhibited by all three phenotypes, decrease is proportionate to severity of symptoms
|
integument
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Werdnig-Hoffmann disease | DOID:13137 |
OMIM:253300 |
J:59313 |