Analysis Tools
nervous system
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• myelin proteins of the brain are normal at days 10, 19, 28 and in 12 week old mice
• oligodendrocytes appear normal in young mice
• nerve conduction velocities are normal at 6-7 months
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• scattered instances of axon collapse and replacement with fibrillar material in the spinal cord at 18 months
• large caliber axons predominantly affected
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• myelin sheaths in the sciatic nerve are normal at 5 months
• scattered signs of myelin sheath degeneration in the spinal cord and sciatic nerve at 18 months of age
• decompaction
• accumulation of material within the sheath wrapping
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behavior/neurological
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• reduced total activity at 4 months in open field tests
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• reduced rearing behavior in open field tests
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• progressive hind limb paralysis in mice older than 22 months
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endocrine/exocrine glands
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• hyperproliferation of basal sebocytes at P10, as shown by BrdU labeling
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• sebaceous glands are significantly enlarged during morphogenesis and depilation-induced anagen
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• hyperproliferation of sebocytes/sebocyte precursors during the growing phase of the hair cycle
• increased number of proliferating cells in the basal layer of the SG but also in adjacent cells of the upper outer root sheath, as shown by Ki67 staining
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• large sebum plugs appear to be released en bloc from the sebaceous gland before apoptosis during holocrine secretion is complete
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• the ultrastructure of most lipid droplets is unchanged; however, some droplets appear to be irregularly shaped with an unusual internal structure
• the total amount of wax diesters is reduced by about 70-75%
• wax monoesters are increased by 3- to 4-fold
• the concentration of cholesterol and free fatty acids are slightly but significantly increased
• melting of surface/sebum lipids begins at 37 C in the case of wild-type sebum and at >50 C in the case of mutant sebum
• however, mice display normal ability to repel water in a water repulsion test
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integument
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• hyperproliferation of basal sebocytes at P10, as shown by BrdU labeling
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• sebaceous glands are significantly enlarged during morphogenesis and depilation-induced anagen
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• hyperproliferation of sebocytes/sebocyte precursors during the growing phase of the hair cycle
• increased number of proliferating cells in the basal layer of the SG but also in adjacent cells of the upper outer root sheath, as shown by Ki67 staining
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• large sebum plugs appear to be released en bloc from the sebaceous gland before apoptosis during holocrine secretion is complete
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• the ultrastructure of most lipid droplets is unchanged; however, some droplets appear to be irregularly shaped with an unusual internal structure
• the total amount of wax diesters is reduced by about 70-75%
• wax monoesters are increased by 3- to 4-fold
• the concentration of cholesterol and free fatty acids are slightly but significantly increased
• melting of surface/sebum lipids begins at 37 C in the case of wild-type sebum and at >50 C in the case of mutant sebum
• however, mice display normal ability to repel water in a water repulsion test
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• fur of young mice is less soft and glossy, and hair appears to be covered with a film of white material, with chunks of different sizes seen on the skin and hair
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• mice show a delay in fur development by 2 days, with the first fur evident at P8-P9 versus P6 in controls
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• some mice display significant hair loss of their back skin in the first telogen
• during subsequent hair cycles, all mice show repeated loss of their back and ventral skin hair
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sparse hair
(
J:175386
)
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• at the end of hair follicle morphogenesis (P16), fur appears more irregular with an apparently lower hair density
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• distal to the juncture of the sebaceous glands with the hair follicle, hair shafts are either absent or appear to be compressed with obvious signs of degeneration
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• at 4 weeks of age, follicle ostia appear dilated in the telogen and early anagen phase
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• dilated hair canals are filled with plugs of sebum and hair shaft and root sheath debris
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• anagen induction is normal suggesting that retention of the hair fiber exit is responsible for delayed emergence of fur
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• mice depilated at an age of 45-46 days show a 2- to 3-day delay in the emergence of new fur relative to controls, similar to the delay in fur development during morphogenesis
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• at the outer aspect of the stratum corneum, the skin surface exhibits multiple layers of loosely attached keratinized cells separated by almost regular spaces filled with granular material of unknown origin
• however, no significant changes in epidermal 2-Hydroxylated fatty acid (HFA)-containing sphingolipids are observed
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flaky skin
(
J:175386
)
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• at 5-7 days of age, skin often appears more flaky than in wild-type or heterozygous controls
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