behavior/neurological
reproductive system
infertility
(
J:13085
)
• affected homozygotes are sterile
|
homeostasis/metabolism
• at 5-7 months of age, affected homozygotes display significantly decreased serum globulin levels relative to normal siblings
• most of the decrease in the globulin level is due to a sharp decrease in the alpha fraction
|
• at 5-7 months of age, affected homozygotes display significantly higher serum albumin levels than normal siblings
|
• at 3 months of age, affected homozygotes display a higher concentration of creatine phosphate in the supernatant fraction of calcium-precipitated trichloracetic acid extracts of brain tissue relative to normal siblings
|
nervous system
• at 3 months of age, affected homozygotes display a higher concentration of creatine phosphate and ribose in the supernatant fraction of calcium-precipitated trichloracetic acid extracts of brain tissue relative to normal siblings
• authors interpret the increase of creatine phosphates as an indication of lowered brain activity; however, the increase of ribose levels in the calcium soluble fraction remains unclear
|