Mouse Genome Informatics
hm
    Atp7btx-J/Atp7btx-J
C3H/HeJ-Atp7btx-J/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice are moribund by 2 to 3 weeks of age (J:24233)
• however, mice fostered by wild-type dams exhibit increased survival (J:24233)

liver/biliary system
• the mitochondrial in the liver are abnormal at 3 months of age consisting of changes in the width of cristae with some cystic dilation at the tips (J:130273)
• mice exhibit cirrhosis of the liver that is reduced in subsequent generation with continuous fostering to wild-type dams (J:24233)
• in older homozygotes (J:150853)

homeostasis/metabolism
• copper levels in the brain are increased 1.2-fold at 4 months and 3-fold at 6 months

nervous system
• mice exhibit neuronal necrosis in the dorsal and lateral aspects of the frontal parietal and occipital lobes but not the temporal lobe
• copper levels in the brain are increased 1.2-fold at 4 months and 3-fold at 6 months
• at 1 week of age acute neuronal necrosis, histologically characterized by nuclear pyknosis with cytoplasmic shrinkage and eosinophilia, is found in the dorsal and lateral aspects of the frontal, parietal and occipital lobes, but not the temporal lobe, and the first and second layers of each section of the cortex tend not to be affected while the third to sixth layers are the most affected

pigmentation
• pale coat color (J:150853)

other phenotype
• the first litter is the most severely affected and the severity of the phenotype in pups decreases with each subsequent litter of the dam

hematopoietic system
• in areas of neuronal necrosis

immune system
• in areas of neuronal necrosis

integument
• pale coat color (J:150853)

Mouse Models of Human Disease
OMIM IDRef(s)
Wilson Disease 277900 J:130273