Phenotypes Associated with This Genotype

Genotype
MGI:6324209

• Allelic Composition: Atp7a^Mo-blo/Y
• Genetic Background: involves: C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

abnormal copper homeostasis ( J:36268 )

♂ • mice show an increase in accumulation of copper in the kidney, lung, duodenum, skin and connective tissues compared to wild-type mice following injection of isotope-labeled copper

♂ • mice show a decrease in copper accumulation in the liver, and a small decrease in spleen copper content is seen

♂ • subcellular distribution of copper in the kidney and liver is aberrant, with the majority of sequestered copper in the cytosol

increased intestine copper level ( J:36268 )

♂ • mice show an increase in accumulation of copper in the duodenum compared to wild-type mice following injection of isotope-labeled copper

increased kidney copper level ( J:36268 )

♂ • mice show an increase in accumulation of copper in the kidney compared to wild-type mice following injection of isotope-labeled copper

decreased liver copper level ( J:36268 )

♂ • mice show a decrease in copper accumulation in the liver compared to wild-type mice following injection of isotope-labeled copper

liver/biliary system

decreased liver copper level ( J:36268 )

♂ • mice show a decrease in copper accumulation in the liver compared to wild-type mice following injection of isotope-labeled copper

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Menkes disease		DOID:1838	OMIM:309400	J:36268