mortality/aging
• all mice die by P0
|
nervous system
• loss of cilia from neuroepithelium cells at E16.5
|
• in the cerebellar hemispheres
|
• periventricular heterotopias
|
• reduced anteriorposterior axis
|
• semilobular
|
hydrocephaly
(
J:196290
)
• in most mice
|
• downward persistence
|
• poorly developed median longitudional septum separating the cereberal hemispheres
|
• disorganized lamination without formation of clear cortical plate and diffuse cell proliferation
|
• thin
|
skeleton
• complex posterior fossa defects
|
• enlarged
|
• incomplete closure
|
micrognathia
(
J:196290
)
• in 7 of 35 mice
|
• bowed and shortened
|
polyphalangy
(
J:196290
)
• on the first digit in the hindlimb
|
cellular
• mouse embryonic fibroblasts exhibit fewer and shorter cilia compared with wild-type cells
|
• loss of cilia from neuroepithelium cells at E16.5
|
• loss of cilia
|
• in the cerebellar hemispheres
|
• in the cerebellar hemispheres and neocortex
|
• in renal tubules at E14.5
|
craniofacial
• complex posterior fossa defects
|
• enlarged
|
• incomplete closure
|
micrognathia
(
J:196290
)
• in 7 of 35 mice
|
• in 4 of 35 mice
|
renal/urinary system
• loss of cilia
|
• in renal tubules at E14.5
|
kidney cyst
(
J:196290
)
• from E16.5
|
• from E16.5
|
respiratory system
• respiratory insufficiency at birth
|
vision/eye
• in 1 of 35 mice
|
anophthalmia
(
J:196290
)
growth/size/body
• in 4 of 35 mice
|
omphalocele
(
J:196290
)
kidney cyst
(
J:196290
)
• from E16.5
|
• from E16.5
|
cardiovascular system
dextrocardia
(
J:196290
)
embryo
• in 6 of 10 mice
|
limbs/digits/tail
polyphalangy
(
J:196290
)
• on the first digit in the hindlimb
|
• only on the hindlimb
|
liver/biliary system
homeostasis/metabolism
hearing/vestibular/ear
• in 2 of 29 mice
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Meckel syndrome | DOID:0050778 |
OMIM:PS249000 |
J:196290 |