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
|
• 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
|
dilated aorta
(
J:5516
)
|
• 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)
|
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
|
• 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
|
|
• 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 |