Mouse Genome Informatics
hm
    Atp7btm1Tcg/Atp7btm1Tcg
involves: 129S1/Sv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• in a few litters, the second generation of pups born to homozygous mutant dams died by the age of 3 weeks; however, in the remaining litters, most of the pups survived and appeared normal by the age of 5-6 weeks

behavior/neurological
• the second generation of pups born to homozygous mutant dams displayed tremors
• the second generation of pups born to homozygous mutant dams displayed abnormal locomotive behavior
• the second generation of pups born to homozygous mutant dams displayed ataxia

endocrine/exocrine glands
• the apparently copper-laden mammary glands in homozygous mutant females produced copper-deficient milk (J:57632)
• a similar "infant syndrome" has been reported for mutant pups born to homozygous mutant dams with "toxic milk" (J:57632)

growth/size
• the progeny of homozygous mutant females displayed growth retardation

homeostasis/metabolism
• homozygotes displayed gradual copper accumulation in the liver, kidney, brain, placenta and lactating mammary glands
• no significant copper deposition was detected in the iris
• despite copper accumulation in these tissues, young to middle-aged adult mutants were viable, fertile, and overtly normal
• copper levels in the mutant placenta were elevated about 4-fold relative to wild-type
• by 5 months of age, accumulation of hepatic copper increased to a level 60-fold greater than wild-type
• newborn homozygotes displayed about a 30-fold reduction in hepatic copper relative to wild-type

liver/biliary system
N
• no jaundice, ascitis or other signs of liver decompensation were observed until 10 months of age (J:57632)
• accumulation of hepatic copper in young homozygotes led to the formation of regenerative (cirrhotic) nodes and subsequent fibrosis in middle- to old-aged mice (>7 months)
• by 5 months of age, accumulation of hepatic copper increased to a level 60-fold greater than wild-type
• newborn homozygotes displayed about a 30-fold reduction in hepatic copper relative to wild-type
• accumulation of hepatic copper in young homozygotes led to the formation of regenerative (cirrhotic) nodes and subsequent fibrosis in middle- to old-aged mice (>7 months)

integument
• the apparently copper-laden mammary glands in homozygous mutant females produced copper-deficient milk (J:57632)
• a similar "infant syndrome" has been reported for mutant pups born to homozygous mutant dams with "toxic milk" (J:57632)

Mouse Models of Human Disease
OMIM IDRef(s)
Wilson Disease 277900 J:57632