mortality/aging
• usually die before 2 months of age, generally around 4-6 week
|
craniofacial
• thin skull
|
• open sutures
|
• skull volume doubled at birth, 0.88cc vs 0.44cc
• does not develop before 3-5 days after birth or possible the 2nd week of life
|
domed cranium
(
J:13035
)
• develops after the first week of life
|
nervous system
hydrocephaly
(
J:13035
)
• foramina of Monro wider than normal
|
• aqueduct of Sylvius occluded around 16 days of age
|
• enlargement of extracellular spaces in the white matter after occlusion of the aqueduct of Sylvius
|
• enormously dilated at birth
• thinning of pallium but basal ganglia less affected
• not apparent before 3-5 days of age
|
• cerebral cortex smooth and very thin
|
• flattened cells in the ependymal lining
|
• calvarium tends to adhere more tightly to brain
• reduction of meningeal layers at 8 days of age
• swelling of cells in meninges in the area of the foramina of Luschka and the otic capsules
|
growth/size/body
• general growth retardation
• never reach normal size
|
behavior/neurological
• episodes of aggressive behavior
|
• "cowering" behavior observed at 21 days of age
|
• become inactive as they age
|
reproductive system
• probably (N=1)
|
muscle
muscle spasm
(
J:13103
)
• develop spasticity of the hind limbs
|
respiratory system
• nasal discharge composed of squamous epithelia and polymorphonuclear leukocytes
(J:13035)
• nasal discharge not seen in later studies
(J:13103)
|
skeleton
• thin skull
|
• open sutures
|
• skull volume doubled at birth, 0.88cc vs 0.44cc
• does not develop before 3-5 days after birth or possible the 2nd week of life
|
domed cranium
(
J:13035
)
• develops after the first week of life
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
hydrocephalus | DOID:10908 |
OMIM:123155 OMIM:236600 OMIM:236635 OMIM:307000 OMIM:615219 |
J:5426 |