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Phenotypes Associated with This Genotype
Genotype
MGI:3624438
Allelic
Composition
Pomgnt1Gt(OST179231)Lex/Pomgnt1Gt(OST179231)Lex
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pomgnt1Gt(OST179231)Lex mutation (0 available); any Pomgnt1 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/22/2020
MGI 6.16
The Jackson Laboratory