Phenotypes associated with this allele

• Allele Symbol: Atp7a^Mo-dp
• Allele Name: dappled
• Allele ID: MGI:1856099
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Atp7a^Mo-dp/Atp7a^+	involves: 101/H * C3H/HeH	MGI:5696613
ht2	Atp7a^Mo-dp/Atp7a^+	Not Specified	MGI:3794522
ot3	Atp7a^Mo-dp/Y	involves: 101/H * C3H/HeH	MGI:5696621
ot4	Atp7a^Mo-dp/Y	Not Specified	MGI:3799623

Genotype
MGI:5696613

ht1

• 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

Genotype
MGI:3794522

ht2

• Allelic Composition: Atp7a^Mo-dp/Atp7a⁺
• Genetic Background: Not Specified

cardiovascular system

aortic aneurysm ( J:5397 )

♀ • 4% of mutants display aortic aneurysms and 6% show S-shaped lesions (lesions/aneurysms involve the thoracic and abdominal aorta and its branches)

integument

variegated coat color ( J:12943 )

♀

curly vibrissae ( J:12943 )

♀ • variable curling of the vibrissae

limbs/digits/tail

clubfoot ( J:12943 )

♀ • some females show clubbing of one or both fore feet at birth or at weaning

pigmentation

variegated coat color ( J:12943 )

♀

skeleton

abnormal skeleton morphology ( J:12943 )

♀ • some females develop calcified lumps in the region of the periosteum, especially on the vertebral column, particularly the thoracic and lumber regions with age

Genotype
MGI:5696621

ot3

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

mortality/aging

lethality throughout fetal growth and development ( J:220263 )

♂ • males die by E17

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

Genotype
MGI:3799623

ot4

• Allelic Composition: Atp7a^Mo-dp/Y
• Genetic Background: Not Specified

limbs/digits/tail

abnormal limb bone morphology ( J:12943 )

♂ • distortion of the limb bones

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:12943 )

♂ • most males die at E17-18, although some die at birth

perinatal lethality, complete penetrance ( J:12943 )

♂ • remaining males die at the time of birth

skeleton

abnormal limb bone morphology ( J:12943 )

♂ • distortion of the limb bones

abnormal pectoral girdle bone morphology ( J:12943 )

♂ • distortion of the pectoral girdle

abnormal pelvic girdle bone morphology ( J:12943 )

♂ • distortion of the pelvic girdle

abnormal rib morphology ( J:12943 )

♂ • at E15, some embryos exhibit very white ribs that are thickened and bent

♂ • occasionally males with abnormal bones are seen at birth, however they die at this time

wide ribs ( J:12943 )

♂ • some embryos at E15 exhibit thickened ribs