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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Atp7aMo-blo
blotchy
MGI:1856097
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Atp7aMo-blo/Atp7aMo-blo Not Specified MGI:3793785
ht2
Atp7aMo-blo/Atp7a+ involves: C57BL/6J MGI:6324210
ht3
Atp7aMo-blo/Atp7a+ Not Specified MGI:3793784
ht4
Atp7aMo-blo/Atp7aMo-br involves: C57BL MGI:3794525
ot5
Atp7aMo-blo/Y B6.Cg-Atp7aMo-blo/J MGI:3793864
ot6
Atp7aMo-blo/Y involves: C57BL/10 MGI:3794526
ot7
Atp7aMo-blo/Y involves: C57BL/6J MGI:6324209
ot8
Atp7aMo-blo/Y Not Specified MGI:3793728
ot9
Atp7aMo-blo/? Not Specified MGI:3793950


Genotype
MGI:3793785
hm1
Allelic
Composition
Atp7aMo-blo/Atp7aMo-blo
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-blo mutation (3 available); any Atp7a mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice have reduced viability

growth/size/body
• usually smaller than wild-type

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

pigmentation
• homozygous mice are light-colored all over

reproductive system
• many homozygotes are sterile

limbs/digits/tail
• occasionally hindlimbs are deformed

integument
• homozygous mice are light-colored all over
• whiskers are curly at birth but straighten by weaning age




Genotype
MGI:6324210
ht2
Allelic
Composition
Atp7aMo-blo/Atp7a+
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-blo mutation (3 available); any Atp7a mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 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
• 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
• mice show a small decrease in brain copper content compared to wild-type mice following injection of isotope-labeled copper
• mice show an increase in accumulation of copper in the kidney compared to wild-type mice following injection of isotope-labeled copper
• mice show a decrease in copper accumulation in the liver compared to wild-type mice following injection of isotope-labeled copper

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

nervous system
• mice show a small decrease in brain copper content 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
Atp7aMo-blo/Atp7a+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-blo mutation (3 available); any Atp7a mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• usually smaller than wild-type
• prior to death

pigmentation
• 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
• occasionally hindlimbs are deformed

reproductive system
N
• viability and fertility are normal

behavior/neurological
• prior to death

cardiovascular system
• kink in distal part of descending aorta is commonly observed; in some animals, seen at 15 days of age
• 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)
• in grades II-IV lesions, aorta elastic fiber fibers show increasing vacuolation and fragmentation; in grade V lesions elastic fibers are absent
• uniform dilatation of aorta to level of superior mesenteric artery is frequently observed
• aneurysms may also occur at level of diaphragmatic hiatus
• 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)
• at time of death, many animals exhibit bilateral hemothorax
• seen in several pregnant females

respiratory system
• at time of death, many animals exhibit bilateral hemothorax

integument
• 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
• mutants have thin rough coats
• 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
Atp7aMo-blo/Atp7aMo-br
Genetic
Background
involves: C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-blo mutation (3 available); any Atp7a mutation (68 available)
Atp7aMo-br mutation (1 available); any Atp7a mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• all female mutants display aortic aneurysms




Genotype
MGI:3793864
ot5
Allelic
Composition
Atp7aMo-blo/Y
Genetic
Background
B6.Cg-Atp7aMo-blo/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-blo mutation (3 available); any Atp7a mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• 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
• 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
• 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
• 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
Atp7aMo-blo/Y
Genetic
Background
involves: C57BL/10
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-blo mutation (3 available); any Atp7a mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• at 12 hours after birth, newborn lungs are grossly larger than wild-type littermates, with enlarged airspaces
• lung volumes are significantly larger than controls

respiratory system
• at 12 hours after birth, newborn lungs are grossly larger than wild-type littermates, with enlarged airspaces
• lung volumes are significantly larger than controls
• alveolar ducts show generalized dilatation at birth
• alveoli are shallow with shortened (or absent) alveolar septa in some regions, surrounding regions of relatively normal architecture
• alveolar septa are shortened or absent in some regions
• lungs show generalized enlargement of airspaces
• internal surface area of inflated lungs is lower than controls in adult males
• 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
• adult mutants have increased total lung capacity relative to controls
• at rest, adults breathe as if the airways are obstructed, with prolonged expiratory phase and prominent chest wall effort
• adult mutants have increased lung compliance (30-70% higher) and increased specific compliance




Genotype
MGI:6324209
ot7
Allelic
Composition
Atp7aMo-blo/Y
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-blo mutation (3 available); any Atp7a mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 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
• mice show an increase in accumulation of copper in the duodenum compared to wild-type mice following injection of isotope-labeled copper
• mice show an increase in accumulation of copper in the kidney compared to wild-type mice following injection of isotope-labeled copper
• mice show a decrease in copper accumulation in the liver compared to wild-type mice following injection of isotope-labeled copper

liver/biliary system
• mice show a decrease in copper accumulation in the liver 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
Atp7aMo-blo/Y
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-blo mutation (3 available); any Atp7a mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• brain levels are reduced by 30% compared to wild-type males

mortality/aging
N
• hemizygous males are viable at birth
• mice have reduced viability after birth

cardiovascular system
(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)
• 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)
• in grades II-IV lesions, aorta elastic fiber fibers show increasing vacuolation and fragmentation; in grade V lesions elastic fibers are absent
• without obvious aneurysm, aorta dry weight is significantly greater than control; in aneurismal aortas, dry weight is >3-fold greater than controls
• at 18-19 weeks, external diameter of ascending aorta is twice that of wild-type male littermates
• uniform dilatation of aorta to level of superior mesenteric artery is frequently observed
• 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)
• at time of death, many animals exhibit bilateral hemothorax

pigmentation
• 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
• mild sustained tremor is observed in mutants
• males display general inactivity
• prior to death

homeostasis/metabolism
• brain levels are reduced by 30% compared to wild-type males

reproductive system
• occasional males display priapism with balanoposthitis
• many males are sterile

growth/size/body
• usually smaller than wild-type
• prior to death

limbs/digits/tail
• occasionally hindlimbs are deformed

respiratory system
• at time of death, many animals exhibit bilateral hemothorax

integument
• 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)
• mutants have thin rough coats
• 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
Atp7aMo-blo/?
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-blo mutation (3 available); any Atp7a mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 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
• 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





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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
03/30/2021
MGI 6.16
The Jackson Laboratory