mortality/aging
• incomplete penetrance; more than 50% die after E18.5
|
cardiovascular system
• exhibited by several embryos
|
• most common defect observed by mice with cardiovascular abnormalities
• frequently observed in conjuction with ventricular septal defects
|
• observed in a single embryo
|
• frequently observed in conjuction with double outlet right ventricle
|
embryo
• exhibited at E9.5 by 2-3% of mutant mice
|
• mild abnormalities in somite segmentation
|
homeostasis/metabolism
limbs/digits/tail
kinked tail
(
J:79834
)
• exhibited by 25% of surviving mice
|
• exhibited by some surviving mice
|
skeleton
• observed in one neonate
• affecting the sixth sternebra
|
• 90% displayed minor abnormalities
• normal rib number
|
rib fusion
(
J:79834
)
• 90% displayed minor abnormalities
• defects localized dorsally in vertebral ribs and vertebral bodies
|
• disorganized thoracic vertebrae
|
nervous system
• exhibited at E9.5 by 2-3% of mutant mice
|
exencephaly
(
J:79834
)
• exhibited at E9.5 by 2-3% of mutant mice
|
hearing/vestibular/ear
N |
• normal stereocilia orientation at E18.5
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
dextro-looped transposition of the great arteries | DOID:0060770 |
OMIM:608808 |
J:96661 |