Phenotypes associated with this allele
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-blo mutation
(3 available);
any
Atp7a mutation
(69 available)
|
|
|
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
|
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
(69 available)
|
|
|
homeostasis/metabolism
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
|
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
(69 available)
|
|
|
growth/size/body
|
|
• usually smaller than wild-type
|
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
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
|
|
|
• 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)
|
|
|
• aneurysms may also occur at level of diaphragmatic hiatus
|
|
|
• 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
|
cardiovascular system
|
|
• all female mutants display aortic aneurysms
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-blo mutation
(3 available);
any
Atp7a mutation
(69 available)
|
|
|
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
|
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
(69 available)
|
|
|
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
|
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
|
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
(69 available)
|
|
|
homeostasis/metabolism
liver/biliary system
|
|
• mice show a decrease in copper accumulation in the liver compared to wild-type mice following injection of isotope-labeled copper
|
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
(69 available)
|
|
|
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
|
homeostasis/metabolism
reproductive system
|
|
• occasional males display priapism with balanoposthitis
|
growth/size/body
|
|
• usually smaller than wild-type
|
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
|
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
(69 available)
|
|
|
homeostasis/metabolism
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
|
Analysis Tools