Mouse Genome Informatics
ot
    Abcd1tm1Kds/Y
involves: 129S4/SvJae * C57BL/6J
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• at 8 months of age, exhibit an accumulation of very long chain fatty acids in the spinal cord (C26:0), adrenal gland (C24:0 and C26:0), and sciatic nerve (C26:0)

behavior/neurological
• in rotarod test at 20 months of age
• impaired exploratory abilities in the open field test

endocrine/exocrine glands
• exhibit intralysosomal needle-like cholesterol inclusions in the fascicular cell layer of the cortex and cortico-medullary junction
• at 18 months of age, mice exhibit fibrosis of the fascicular cell layer
• mice exhibit intralysosomal needle-like cholesterol inclusions in the fascicular cell layer
• at 18 months of age, exhibit fibrosis of the reticular cell layer

nervous system
• slight increase in the number and size of microglia at 22 months of age
• slight increase in the number and size of astrocytes at 22 months of age
• axonal degeneration in the spinal cord and inflammatory infiltrates in cervical and lumbar spinal cord regions
• degeneration in the spinal cord, characterized by axonal swelling with accumulation of APP and synaptophysin and abnormal lipidic droplets resulting from myelin debris
• axonal degeneration precedes myelin disturbances
• spinal cord axons contain myelin debris
• exhibit slowing of motor and sensitive nerve conduction velocities at 20, but not 12, months of age

hematopoietic system
• slight increase in the number and size of microglia at 22 months of age

immune system
• slight increase in the number and size of microglia at 22 months of age

Mouse Models of Human Disease
OMIM IDRef(s)
Adrenoleukodystrophy; ALD 300100 J:94583