Phenotypes associated with this allele

• Allele Symbol: Atp7a^Mo-br
• Allele Name: brindled
• Allele ID: MGI:1856098
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Atp7a^Mo-blo/Atp7a^Mo-br	involves: C57BL	MGI:3794525
ot2	Atp7a^Mo-br/Y	C57BL/6-Atp7a^Mo-br/J	MGI:3793865
ot3	Atp7a^Mo-br/Y	involves: C57BL	MGI:3793780

Genotype
MGI:3794525

ht1

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

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

cardiovascular system

aortic aneurysm ( J:5397 )

♀ • all female mutants display aortic aneurysms

Genotype
MGI:3793865

ot2

• Allelic Composition: Atp7a^Mo-br/Y
• Genetic Background: C57BL/6-Atp7a^Mo-br/J

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:105736 )

♂ • specific activity of superoxide dismutase 3 (SOD3) in fibroblasts is markedly reduced compared to wild-type cells

Genotype
MGI:3793780

ot3

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

homeostasis/metabolism

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%

increased intestine copper level ( J:5462 )

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

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%

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