Phenotypes Associated with This Genotype

Genotype
MGI:3794526

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

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

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