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Phenotypes Associated with This Genotype
Genotype
MGI:3043693
Allelic
Composition
Atp7btm1Tcg/Atp7btm1Tcg
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7btm1Tcg mutation (0 available); any Atp7b mutation (3 available)
phenotype observed in females
phenotype observed in males
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 (J:57632)
• 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 (J:57632)

behavior/neurological
• the second generation of pups born to homozygous mutant dams displayed tremors (J:57632)
• the second generation of pups born to homozygous mutant dams displayed tremors (J:57632)
• the second generation of pups born to homozygous mutant dams displayed abnormal locomotive behavior (J:57632)
• the second generation of pups born to homozygous mutant dams displayed abnormal locomotive behavior (J:57632)
• the second generation of pups born to homozygous mutant dams displayed ataxia (J:57632)
• the second generation of pups born to homozygous mutant dams displayed ataxia (J:57632)

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)
• 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/body
• the progeny of homozygous mutant females displayed growth retardation (J:57632)
• the progeny of homozygous mutant females displayed growth retardation (J:57632)

homeostasis/metabolism
• homozygotes displayed gradual copper accumulation in the liver, kidney, brain, placenta and lactating mammary glands (J:57632)
• no significant copper deposition was detected in the iris (J:57632)
• despite copper accumulation in these tissues, young to middle-aged adult mutants were viable, fertile, and overtly normal (J:57632)
• copper levels in the mutant placenta were elevated about 4-fold relative to wild-type (J:57632)
• homozygotes displayed gradual copper accumulation in the liver, kidney, brain, placenta and lactating mammary glands (J:57632)
• no significant copper deposition was detected in the iris (J:57632)
• despite copper accumulation in these tissues, young to middle-aged adult mutants were viable, fertile, and overtly normal (J:57632)
• copper levels in the mutant placenta were elevated about 4-fold relative to wild-type (J:57632)
• by 5 months of age, accumulation of hepatic copper increased to a level 60-fold greater than wild-type (J:57632)
• newborn homozygotes displayed about a 30-fold reduction in hepatic copper relative to wild-type (J:57632)
• by 5 months of age, accumulation of hepatic copper increased to a level 60-fold greater than wild-type (J:57632)
• newborn homozygotes displayed about a 30-fold reduction in hepatic copper relative to wild-type (J:57632)

liver/biliary system
N
• no jaundice, ascitis or other signs of liver decompensation were observed until 10 months of age (J:57632)
• 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) (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) (J:57632)
• by 5 months of age, accumulation of hepatic copper increased to a level 60-fold greater than wild-type (J:57632)
• newborn homozygotes displayed about a 30-fold reduction in hepatic copper relative to wild-type (J:57632)
• by 5 months of age, accumulation of hepatic copper increased to a level 60-fold greater than wild-type (J:57632)
• newborn homozygotes displayed about a 30-fold reduction in hepatic copper relative to wild-type (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) (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) (J:57632)

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)
• 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 ID Ref(s)
Wilson Disease 277900 J:57632


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory