nervous system
• seen in 4 of 7 homozygotes
|
• CA3 cells fail to form a compact lamina
|
• the lower blade appears wavy
|
• the two hemispheres are fused in many areas
|
• the distribution of neural cells is abnormal with the apparent loss of the molecular layer I in many areas
• cortical neurons appear to overmigrate into layer I
|
• clumps of cells are seen above and below the molecular layer
|
• folia are smaller and folia 2 and 3 are not clearly discernable
|
• reduced ganglion cell density in the central and peripheral retina in 3 of 5 mice
|
• smaller in 3 of 5 mice
|
vision/eye
• smaller in 3 of 5 mice
|
• laminin-111 and nidogen-1 are reduced in the inner limiting membrane
• thinner and altered surface topography in mutants
|
• reduced ganglion cell density in the central and peripheral retina in 3 of 5 mice
|
• thinner
|
• thinner
|
• in an electroretinogram both the a- and b-waves are reduced in amplitude and delayed in implicit time across multiple light intensities
• also, the a-wave is only present at the highest light intensities
|
muscle
• fibers are rounder, vary in size, and infiltration of fat cells is seen
|
• fibers from leg muscles are highly variable in size and have centralized micronuclei
|
• fibers from leg muscles are highly variable in size
|
• fibers from leg muscles have centralized micronuclei
|
• dystrophic changes in skeletal muscle; however no signs of fibrosis are seen
|
cardiovascular system
N |
• no cardiac abnormalities are seen
|
reproductive system
• females have small litters of up to 5 pups
|
• females have small litters of up to 5 pups
|
• infertile, but with normal testis and sperm morphology and normal sperm motility
|
behavior/neurological
growth/size/body
• fibers are rounder, vary in size, and infiltration of fat cells is seen
|
• noticeably smaller during the first 2 days after birth
|
craniofacial
• fibers are rounder, vary in size, and infiltration of fat cells is seen
|
digestive/alimentary system
• fibers are rounder, vary in size, and infiltration of fat cells is seen
|
cellular
• laminin-111 and nidogen-1 are reduced in the inner limiting membrane, a basement membrane of the retina
• inner limiting membrane is thinner and has an altered surface topography in mutant retinas compared to controls
|
• the rate of basement membrane assembly on the surface of neural stem cells is reduced
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Walker-Warburg syndrome | DOID:0050560 | J:107697 , J:196379 |