Phenotypes Associated with This Genotype

Genotype
MGI:3793780

• Allelic Composition: Atp7a^Mo-br/Y
• Genetic Background: involves: C57BL

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

homeostasis/metabolism

increased intestine copper level ( J:5462 )

♂ • 7-10 day-old males show an accumulation of copper in the intestinal wall

decreased circulating copper level ( J:5462 )

♂ • significant reduction in serum copper (mostly found in ceruplasmin) in males is observed

decreased noradrenaline level ( J:5462 )

♂ • brain levels are reduced by 66% compared to wild-type males

decreased brain copper level ( J:5462 )

♂ • copper levels in brain are reduced by 40%

decreased liver copper level ( J:5462 )

♂ • 7-10 day-old males have significantly reduced (by >2-fold) liver copper levels

liver/biliary system

decreased liver copper level ( J:5462 )

♂ • 7-10 day-old males have significantly reduced (by >2-fold) liver copper levels

nervous system

decreased brain copper level ( J:5462 )

♂ • copper levels in brain are reduced by 40%

digestive/alimentary system

increased intestine copper level ( J:5462 )

♂ • 7-10 day-old males show an accumulation of copper in the intestinal wall

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Menkes disease		DOID:1838	OMIM:309400	J:5462