Phenotypes Associated with This Genotype

Genotype
MGI:5696613

• Allelic Composition: Atp7a^Mo-dp/Atp7a⁺
• Genetic Background: involves: 101/H * C3H/HeH

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

integument

variegated coat color ( J:220263 )

♀

curly vibrissae ( J:220263 )

♀ • variable penetrance

nervous system

decreased brain copper level ( J:220263 )

♀ • mean brain copper levels are about 25% lower than in wild-type females, although this is not significant due to small number of mice studied

pigmentation

variegated coat color ( J:220263 )

♀

homeostasis/metabolism

decreased noradrenaline level ( J:220263 )

♀ • in the brain

decreased brain copper level ( J:220263 )

♀ • mean brain copper levels are about 25% lower than in wild-type females, although this is not significant due to small number of mice studied

abnormal enzyme/coenzyme activity ( J:220263 )

♀ • the dihydroxyphenylacetic acid: dihydroxyphenylglycol (DOPAC:DHPG) ratio is about 3.5-fold increased and the dopamine:norepinephrine ratio is about 2.5-fold increased, indicating dopamine beta-hydroxylase (a copper-dependent enzyme) deficiency

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Menkes disease		DOID:1838	OMIM:309400	J:220263