Phenotypes Associated with This Genotype

Genotype
MGI:3793784

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

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

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