Phenotypes associated with this allele

• Allele Symbol: Atp7a^Mo-blo
• Allele Name: blotchy
• Allele ID: MGI:1856097
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atp7a^Mo-blo/Atp7a^Mo-blo	Not Specified	MGI:3793785
ht2	Atp7a^Mo-blo/Atp7a^+	involves: C57BL/6J	MGI:6324210
ht3	Atp7a^Mo-blo/Atp7a^+	Not Specified	MGI:3793784
ht4	Atp7a^Mo-blo/Atp7a^Mo-br	involves: C57BL	MGI:3794525
ot5	Atp7a^Mo-blo/Y	B6.Cg-Atp7a^Mo-blo/J	MGI:3793864
ot6	Atp7a^Mo-blo/Y	involves: C57BL/10	MGI:3794526
ot7	Atp7a^Mo-blo/Y	involves: C57BL/6J	MGI:6324209
ot8	Atp7a^Mo-blo/Y	Not Specified	MGI:3793728
ot9	Atp7a^Mo-blo/?	Not Specified	MGI:3793950

Genotype
MGI:3793785

hm1

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

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

mortality/aging

premature death ( J:13383 )

♀ • mice have reduced viability

growth/size/body

decreased body size ( J:13383 )

♀ • usually smaller than wild-type

cardiovascular system

aortic aneurysm ( J:5397 )

♀ • 85% of mutants display aortic aneurysms (S-shaped or saccular involving the thoracic and abdominal aorta and its branches)

pigmentation

diluted coat color ( J:13383 )

♀ • homozygous mice are light-colored all over

reproductive system

female infertility ( J:13383 )

♀ • many homozygotes are sterile

limbs/digits/tail

abnormal hindlimb morphology ( J:13383 )

♀ • occasionally hindlimbs are deformed

integument

diluted coat color ( J:13383 )

♀ • homozygous mice are light-colored all over

curly vibrissae ( J:13383 )

♀ • whiskers are curly at birth but straighten by weaning age

Genotype
MGI:6324210

ht2

• Allelic Composition: Atp7a^Mo-blo/Atp7a⁺
• Genetic Background: involves: C57BL/6J

homeostasis/metabolism

abnormal ion homeostasis ( J:36268 )

♀ • mice show a decrease in cadmium content in the skin and connective tissue compared to wild-type mice following injection of isotope-labeled cadmium

♀ • however, levels of cadmium in organs such as kidney, liver, and lung are similar to wild-type mice and zinc levels are normal in these organs and in skin and connective tissue

abnormal copper homeostasis ( J:36268 )

♀ • mice show an increase in copper content in the kidney, skin, and connective tissues, with a smaller increase in lungs but no change in duodenal levels compared to wild-type mice following injection of isotope-labeled copper

♀ • mice show a decrease in copper accumulation in the liver and a small decrease in brain copper content

decreased brain copper level ( J:36268 )

♀ • mice show a small decrease in brain copper content compared to wild-type mice following injection of isotope-labeled copper

increased kidney copper level ( J:36268 )

♀ • mice show an increase in accumulation of copper in the kidney compared to wild-type mice following injection of isotope-labeled copper

decreased liver copper level ( J:36268 )

♀ • mice show a decrease in copper accumulation in the liver compared to wild-type mice following injection of isotope-labeled copper

liver/biliary system

decreased liver copper level ( J:36268 )

♀ • mice show a decrease in copper accumulation in the liver compared to wild-type mice following injection of isotope-labeled copper

nervous system

decreased brain copper level ( J:36268 )

♀ • mice show a small decrease in brain copper content compared to wild-type mice following injection of isotope-labeled copper

renal/urinary system

increased kidney copper level ( J:36268 )

♀ • mice show an increase in accumulation of copper in the kidney compared to wild-type mice following injection of isotope-labeled copper

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Menkes disease		DOID:1838	OMIM:309400	J:36268

Genotype
MGI:3793784

ht3

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

growth/size/body

decreased body size ( J:13383 )

♀ • usually smaller than wild-type

cachexia ( J:5516 )

♀ • prior to death

pigmentation

diluted coat color ( J:13383 )

♀ • females have irregular patches of dilute-color (pale) fur; expression of dilution is poor in some up to weaning age, but is complete in adults

limbs/digits/tail

abnormal hindlimb morphology ( J:13383 )

♀ • occasionally hindlimbs are deformed

reproductive system

reproductive system phenotype ( J:13383 )

♀N • viability and fertility are normal

behavior/neurological

lethargy ( J:5516 )

♀ • prior to death

hunched posture ( J:5516 )

♀

cardiovascular system

abnormal aorta morphology ( J:5516 )

♀ • kink in distal part of descending aorta is commonly observed; in some animals, seen at 15 days of age

abnormal aorta elastic fiber morphology ( J:5516 )

♀ • at 21 days of age, degenerative changes are seen in elastic fibers of tunica media; lesions include irregular fiber thickness, vacuolation, and fragmentation (grade II lesions)

decreased aorta elastin content ( J:5516 )

♀ • in grades II-IV lesions, aorta elastic fiber fibers show increasing vacuolation and fragmentation; in grade V lesions elastic fibers are absent

dilated aorta ( J:5516 )

♀ • uniform dilatation of aorta to level of superior mesenteric artery is frequently observed

aortic aneurysm ( J:5397 , J:5516 )

♀ • 32% of mutants display aortic aneurysms and 5% show S-shaped lesions (lesions/aneurysms involve the thoracic and abdominal aorta and its branches) (J:5397)

♀ • one or more spontaneous aneurysms can be identified; majority are fusiform or saccular, most commonly on the aortic arch or proximal part of descending aorta (J:5516)

aneurysm ( J:5516 )

♀ • aneurysms may also occur at level of diaphragmatic hiatus

hemothorax ( J:5516 )

♀ • at time of death, many animals exhibit bilateral hemothorax

hemoperitoneum ( J:5516 )

♀ • seen in several pregnant females

respiratory system

hemothorax ( J:5516 )

♀ • at time of death, many animals exhibit bilateral hemothorax

integument

diluted coat color ( J:13383 )

♀ • females have irregular patches of dilute-color (pale) fur; expression of dilution is poor in some up to weaning age, but is complete in adults

coarse hair ( J:5516 )

♀ • mutants have thin rough coats

curly vibrissae ( J:13383 )

♀ • whiskers are curly at birth but straighten by weaning age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aortic aneurysm		DOID:3627		J:5516

Genotype
MGI:3794525

ht4

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

cardiovascular system

aortic aneurysm ( J:5397 )

♀ • all female mutants display aortic aneurysms

Genotype
MGI:3793864

ot5

• Allelic Composition: Atp7a^Mo-blo/Y
• Genetic Background: B6.Cg-Atp7a^Mo-blo/J

skeleton

osteoarthritis ( J:36378 )

♂ • at 2-4 months of age, femoral-tibial joints show structural and cellular changes correlating with mild to moderate osteoarthritis; changes increase in severity with age

♂ • at 10 months, loss of integrity of weight bearing regions of the joints is detected, with cellular changes including cloning and cell loss

abnormal cartilage morphology ( J:36378 )

♂ • 2 month-old mice show decreased collagen crosslinks in cartilage compared to wild-type

♂ • lesions such as defects in cartilage integrity are observed in joints at 10 months of age

immune system

osteoarthritis ( J:36378 )

♂ • at 2-4 months of age, femoral-tibial joints show structural and cellular changes correlating with mild to moderate osteoarthritis; changes increase in severity with age

♂ • at 10 months, loss of integrity of weight bearing regions of the joints is detected, with cellular changes including cloning and cell loss

cellular

oxidative stress ( J:105736 )

♂ • vascular superoxide anion production is increased in all layers of aortas in mutants compared to controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteoarthritis		DOID:8398		J:36378

Genotype
MGI:3794526

ot6

• Allelic Composition: Atp7a^Mo-blo/Y
• Genetic Background: involves: C57BL/10

respiratory system

enlarged lung ( J:5664 )

♂ • at 12 hours after birth, newborn lungs are grossly larger than wild-type littermates, with enlarged airspaces

♂ • lung volumes are significantly larger than controls

dilated pulmonary alveolar duct ( J:5664 )

♂ • alveolar ducts show generalized dilatation at birth

abnormal pulmonary alveolus morphology ( J:5664 )

♂ • alveoli are shallow with shortened (or absent) alveolar septa in some regions, surrounding regions of relatively normal architecture

abnormal pulmonary interalveolar septum morphology ( J:5664 )

♂ • alveolar septa are shortened or absent in some regions

dilated respiratory conducting tube ( J:5664 )

♂ • lungs show generalized enlargement of airspaces

♂ • internal surface area of inflated lungs is lower than controls in adult males

abnormal respiratory system physiology ( J:5664 )

♂ • lungs show reduced specific static recoil pressures at various lung volumes during deflation compared to controls lungs

♂ • with air inflation, elastic recoil pressures are significantly lower over the 50-90% total lung compliance range

increased total lung capacity ( J:5664 )

♂ • adult mutants have increased total lung capacity relative to controls

abnormal breathing pattern ( J:5664 )

♂ • at rest, adults breathe as if the airways are obstructed, with prolonged expiratory phase and prominent chest wall effort

increased lung compliance ( J:5664 )

♂ • adult mutants have increased lung compliance (30-70% higher) and increased specific compliance

growth/size/body

enlarged lung ( J:5664 )

♂ • at 12 hours after birth, newborn lungs are grossly larger than wild-type littermates, with enlarged airspaces

♂ • lung volumes are significantly larger than controls

Genotype
MGI:6324209

ot7

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

homeostasis/metabolism

abnormal copper homeostasis ( J:36268 )

♂ • mice show an increase in accumulation of copper in the kidney, lung, duodenum, skin and connective tissues compared to wild-type mice following injection of isotope-labeled copper

♂ • mice show a decrease in copper accumulation in the liver, and a small decrease in spleen copper content is seen

♂ • subcellular distribution of copper in the kidney and liver is aberrant, with the majority of sequestered copper in the cytosol

increased intestine copper level ( J:36268 )

♂ • mice show an increase in accumulation of copper in the duodenum compared to wild-type mice following injection of isotope-labeled copper

increased kidney copper level ( J:36268 )

♂ • mice show an increase in accumulation of copper in the kidney compared to wild-type mice following injection of isotope-labeled copper

decreased liver copper level ( J:36268 )

♂ • mice show a decrease in copper accumulation in the liver compared to wild-type mice following injection of isotope-labeled copper

liver/biliary system

decreased liver copper level ( J:36268 )

♂ • mice show a decrease in copper accumulation in the liver compared to wild-type mice following injection of isotope-labeled copper

digestive/alimentary system

increased intestine copper level ( J:36268 )

♂ • mice show an increase in accumulation of copper in the duodenum compared to wild-type mice following injection of isotope-labeled copper

renal/urinary system

increased kidney copper level ( J:36268 )

♂ • mice show an increase in accumulation of copper in the kidney compared to wild-type mice following injection of isotope-labeled copper

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Menkes disease		DOID:1838	OMIM:309400	J:36268

Genotype
MGI:3793728

ot8

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

mortality/aging

mortality/aging ( J:38977 )

♂N • hemizygous males are viable at birth

premature death ( J:13383 )

♂ • mice have reduced viability after birth

cardiovascular system

abnormal aorta morphology ( J:5397 , J:15796 )

♂ (J:5397)

♂ • histologic changes are detected by 21 days of age in some males, prior to visible aneurysm (J:15796)

♂ • histologically, disrupted and wavy lamellae are observed and these structures have irregular surfaces; interlamellar spaces are thickened (J:15796)

♂ • smooth muscle cells are large and pleomorphic (J:15796)

abnormal aorta elastic fiber morphology ( J:5516 )

♂ • at 21 days of age, degenerative changes are seen in elastic fibers of tunica media; lesions include irregular fiber thickness, vacuolation, and fragmentation (grade II lesions)

decreased aorta elastin content ( J:5516 )

♂ • in grades II-IV lesions, aorta elastic fiber fibers show increasing vacuolation and fragmentation; in grade V lesions elastic fibers are absent

increased aortic weight ( J:5397 )

♂ • without obvious aneurysm, aorta dry weight is significantly greater than control; in aneurismal aortas, dry weight is >3-fold greater than controls

dilated ascending aorta ( J:15796 )

♂ • at 18-19 weeks, external diameter of ascending aorta is twice that of wild-type male littermates

dilated aorta ( J:5516 )

♂ • uniform dilatation of aorta to level of superior mesenteric artery is frequently observed

aortic aneurysm ( J:5397 , J:5516 , J:15796 )

♂ • 93% of males display aortic aneurysms (J:5397)

♂ • in areas of aneurysm, tissue is largely made up of collagen, whereas normal tissue is mainly collagen and elastin (J:5397)

♂ • one or more spontaneous aneurysms can be identified; majority are fusiform or saccular, most commonly on the aortic arch or proximal part of descending aorta (J:5516)

♂ • aneurysms may also occur at level of diaphragmatic hiatus (J:5516)

♂ • by 6 months of age, all male hemizygotes display aortic aneurysms; aneurysms occur mainly in ascending thoracic aorta with some found in the descending or abdominal aorta (J:15796)

hemothorax ( J:5516 )

♂ • at time of death, many animals exhibit bilateral hemothorax

pigmentation

diluted coat color ( J:5462 , J:13383 , J:15796 )

♂ • hemizygotes surviving beyond birth have severe dilution in hair pigment (J:5462)

♂ • hemizygous males are light-colored all over (J:13383)

♂ • male hemizygotes are distinguished based on pale coat color in contrast to normal black-colored littermates (J:15796)

behavior/neurological

lethargy ( J:5516 )

♂ • prior to death

tremors ( J:5462 )

♂ • mild sustained tremor is observed in mutants

hunched posture ( J:5516 )

♂

decreased locomotor activity ( J:5462 )

♂ • males display general inactivity

homeostasis/metabolism

abnormal noradrenaline level ( J:5462 )

♂ • brain levels are reduced by 30% compared to wild-type males

reproductive system

priapism ( J:5516 )

♂ • occasional males display priapism with balanoposthitis

male infertility ( J:13383 )

♂ • many males are sterile

growth/size/body

decreased body size ( J:13383 )

♂ • usually smaller than wild-type

cachexia ( J:5516 )

♂ • prior to death

limbs/digits/tail

abnormal hindlimb morphology ( J:13383 )

♂ • occasionally hindlimbs are deformed

respiratory system

hemothorax ( J:5516 )

♂ • at time of death, many animals exhibit bilateral hemothorax

integument

diluted coat color ( J:5462 , J:13383 , J:15796 )

♂ • hemizygotes surviving beyond birth have severe dilution in hair pigment (J:5462)

♂ • hemizygous males are light-colored all over (J:13383)

♂ • male hemizygotes are distinguished based on pale coat color in contrast to normal black-colored littermates (J:15796)

coarse hair ( J:5516 )

♂ • mutants have thin rough coats

curly vibrissae ( J:13383 )

♂ • whiskers are curly at birth but straighten by weaning age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aortic aneurysm		DOID:3627		J:5516 , J:15796

Genotype
MGI:3793950

ot9

• Allelic Composition: Atp7a^Mo-blo/?
• Genetic Background: Not Specified

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:5880 )

• lysyl oxidase activity in lungs is significantly decreased compared to wild-type; levels are nearly undetectable in some lungs

• lysyl oxidase activity in lung fibroblasts in culture is reduced to about 42% of that in wild-type cells

cellular

abnormal cell morphology ( J:5880 )

• initially in culture, cells are less ordered than wild-type and exhibit large empty areas between cells; after prolonged culture, cells display similar morphology to wild-type