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Phenotypes Associated with This Genotype
Genotype
MGI:5696613
Allelic
Composition
Atp7aMo-dp/Atp7a+
Genetic
Background
involves: 101/H * C3H/HeH
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-dp mutation (1 available); any Atp7a mutation (87 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• variable penetrance

nervous system
• 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

homeostasis/metabolism
• 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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/11/2018
MGI 6.12
The Jackson Laboratory