Analysis Tools
mortality/aging
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• mice die before 6 months
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|
• about 30% of most severely affected mice die between 2 and 12 days of age
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reproductive system
 |
• no germ cells present at 6-20 weeks old
|
|
|
• spermatogenesis severely compromised at 5 weeks of age
• some tubules continue to carry sperm at 5 weeks
|
|
|
• spermatids still present at 5 weeks of age
• become elongated at 7 weeks of age
|
|
|
• normal at 10 days an 3 weeks of age
• some lipid drops present
• lipid present on periphery of tubules at 5 weeks of age
|
|
|
• empty or filled with fibrous debris at 7 weeks
• multilayered structure of tubules lost
• only a few cell layers remaining by 12 and 16 weeks
• become severely atrophied at 6- 20 weeks of age
• lipid filled
|
small testis
(
J:108368
)
|
|
• descend normally
• small size
|
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• no sperm present
|
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|
• 6-20 week old males mate but fail to sire offspring
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• severely reduced fertility in males but not in females
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nervous system
| N |
• no abnormalities are observed in cortical neuronal migration
|
microgliosis
(
J:201698
)
|
• more prominent in gray matter in all brain regions except for the cerebellum
• severe with earliest onset between 1 and 2 months and increasing severity with age
• in the anterior and posterior horns of the spinal cord but not in the white matter tracts
|
astrocytosis
(
J:201698
)
|
• at 4 months
|
|
• loss of axonal integrity with swelling prior to demyelination
|
behavior/neurological
|
• mice become lethargic as their condition deteriorates between 4 and 6 months with hind paws often retracted to the body
|
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• anxious phenotype beyond 12 weeks
|
|
• on a rotarod from 4 weeks, worsening with age
• beyond 12 weeks of age, mice exhibit frequent falls
|
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• unsteady gait beyond 12 weeks
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homeostasis/metabolism
|
• considerable decrease in oxidation of long chain fatty acids as well as branched chain fatty acids
|
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• levels of C26 fatty acids increased 3-6X in livers and brains
• increased levels of branched fatty acids
|
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• altered bile salt concentration
|
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• accumulation of long chain fatty acids in the cortex
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digestive/alimentary system
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• more undigested material in feces of suckling mice than for littermate controls
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growth/size/body
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• body weight 50% lower than littermate controls at weaning
|
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• noticeable from age 2 days onward
• growth improves after weaning but adults still are 30% lower in weight than controls
|
vision/eye
endocrine/exocrine glands
|
|
• normal at 10 days an 3 weeks of age
• some lipid drops present
• lipid present on periphery of tubules at 5 weeks of age
|
|
|
• only a few cell layers remaining by 12 and 16 weeks
• become severely atrophied at 6- 20 weeks of age
• lipid filled
• empty or filled with fibrous debris at 7 weeks
• multilayered structure of tubules lost
|
small testis
(
J:108368
)
|
|
• descend normally
• small size
|
hematopoietic system
microgliosis
(
J:201698
)
|
• severe with earliest onset between 1 and 2 months and increasing severity with age
• more prominent in gray matter in all brain regions except for the cerebellum
• in the anterior and posterior horns of the spinal cord but not in the white matter tracts
|
immune system
microgliosis
(
J:201698
)
|
• severe with earliest onset between 1 and 2 months and increasing severity with age
• more prominent in gray matter in all brain regions except for the cerebellum
• in the anterior and posterior horns of the spinal cord but not in the white matter tracts
|
cellular
|
|
• no germ cells present at 6-20 weeks old
|
|
|
• spermatids still present at 5 weeks of age
• become elongated at 7 weeks of age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| D-bifunctional protein deficiency | DOID:0090031 |
OMIM:261515 |
J:62314 , J:99925 | |
