Phenotypes Associated with This Genotype

Genotype
MGI:6324210

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

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

homeostasis/metabolism

abnormal ion homeostasis ( J:36268 )

♀ • mice show a decrease in cadmium content in the skin and connective tissue compared to wild-type mice following injection of isotope-labeled cadmium

♀ • however, levels of cadmium in organs such as kidney, liver, and lung are similar to wild-type mice and zinc levels are normal in these organs and in skin and connective tissue

abnormal copper homeostasis ( J:36268 )

♀ • mice show an increase in copper content in the kidney, skin, and connective tissues, with a smaller increase in lungs but no change in duodenal levels 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 brain copper content

decreased brain copper level ( J:36268 )

♀ • mice show a small decrease in brain copper content 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

nervous system

decreased brain copper level ( J:36268 )

♀ • mice show a small decrease in brain copper content 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