Phenotypes Associated with This Genotype

Genotype
MGI:3793728

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

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

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