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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Atp7aMo-vbr
mottled viable brindled
MGI:1856102
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
ot1
Atp7aMo-vbr/Y Not Specified MGI:3793729


Genotype
MGI:3793729
ot1
Allelic
Composition
Atp7aMo-vbr/Y
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-vbr mutation (0 available); any Atp7a mutation (69 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some hemizygous males live several months before dying
• death of hemizygous males can occur within several days of birth

cellular
• the decrease in succinate-cytochrome c reductase activity in muscle indicates that complex II is defective and mitochondrial function is probably disrupted
• skeletal muscle has a reduced PCr recovery rate indicating mitochondrial dysfunction
• however, total ATP content is normal in muscle and brain

cardiovascular system
• lysine content of aortic elastin is higher than controls indicating less conversion to Lys-derived aldehydes and therefore less cross-links
• aortic tissue has diminished cross-link content
• without obvious aneurysm, aorta dry weight is significantly greater than control; in aneurismal aortas, dry weight is >3-fold greater than controls
• in areas of aneurysm, tissue is largely made up of collagen, whereas normal tissue is mainly collagen and elastin

homeostasis/metabolism
N
• serum copper levels are not significantly different from controls
• 19% reduction in total creatine in skeletal muscle
• however, total creatine level in brain is normal
• intracellular pH is higher in the brain
• succinate cytochrome c reductase activity is reduced by about 55% in skeletal muscle (J:44695)
• cytochrome oxidase, creatine kinase, and hexokinase maximal activities are decreased in the brain (J:44695)
• lactate dehydrogenase activity is increased in the brain (J:44695)
• however, no differences are seen in maximal cytochrome oxidase, citrate synthase, or lactate dehydrogenase activity in muscle (J:44695)
• mice exhibit an approximate 2-fold decrease in cytochrome c oxidase and a 1.4-fold decrease in NADH:cytochrome c reductase activities (J:53559)
• the electron transfer activity of cytochrome c oxidase is affected and heme aa3 content is reduced by a factor of about 2 (J:53559)
• however, no changes in the overall rates of mitochondrial oxidative phosphorylation are seen and overall mitochondrial oxygen consumption capacities in the brain cortex are normal (J:53559)
• creatine kinase activity is decreased in the brain

reproductive system
• Background Sensitivity: on some backgrounds males are viable but sterile

pigmentation
• this genotype is near white with dark extremities, a himalayan-like pattern

integument
• this genotype is near white with dark extremities, a himalayan-like pattern
• collagen has much lower proportion of cross-linked components than controls
• extensibility of skin is significantly greater than Atp7aMo-blo males or control Atp7aMo-br females
• breaking force of skin is significantly lower than Atp7aMo-blo males or control Atp7aMo-br females

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Menkes disease DOID:1838 OMIM:309400
J:53559
NOT mitochondrial encephalomyopathy DOID:890 J:44695





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory