Phenotypes Associated with This Genotype

Genotype
MGI:3624438

• Allelic Composition: Pomgnt1^{Gt(OST179231)Lex}/Pomgnt1^{Gt(OST179231)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

dilated lateral ventricle ( J:107697 )

• seen in 4 of 7 homozygotes

abnormal hippocampus morphology ( J:107697 )

• CA3 cells fail to form a compact lamina

abnormal dentate gyrus morphology ( J:107697 )

• the lower blade appears wavy

abnormal cerebral cortex morphology ( J:107697 )

• the two hemispheres are fused in many areas

abnormal stratification in cerebral cortex ( J:107697 )

• 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

thin cerebral cortex ( J:107697 )

abnormal cerebellum morphology ( J:107697 )

• clumps of cells are seen above and below the molecular layer

abnormal cerebellar foliation ( J:107697 )

• folia are smaller and folia 2 and 3 are not clearly discernable

small cerebellum ( J:107697 )

decreased retina ganglion cell number ( J:107697 )

• reduced ganglion cell density in the central and peripheral retina in 3 of 5 mice

abnormal optic nerve morphology ( J:107697 )

• smaller in 3 of 5 mice

vision/eye

abnormal optic nerve morphology ( J:107697 )

• smaller in 3 of 5 mice

abnormal retina inner limiting membrane morphology ( J:196379 )

• laminin-111 and nidogen-1 are reduced in the inner limiting membrane

• thinner and altered surface topography in mutants

abnormal retina layer morphology ( J:107697 )

decreased retina ganglion cell number ( J:107697 )

• reduced ganglion cell density in the central and peripheral retina in 3 of 5 mice

thin retina inner nuclear layer ( J:107697 )

• thinner

thin retina outer nuclear layer ( J:107697 )

• thinner

abnormal eye electrophysiology ( J:107697 )

• 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

abnormal tongue muscle morphology ( J:107697 )

• fibers are rounder, vary in size, and infiltration of fat cells is seen

abnormal skeletal muscle fiber morphology ( J:107697 )

• fibers from leg muscles are highly variable in size and have centralized micronuclei

increased variability of skeletal muscle fiber size ( J:107697 )

• fibers from leg muscles are highly variable in size

centrally nucleated skeletal muscle fibers ( J:107697 )

• fibers from leg muscles have centralized micronuclei

dystrophic muscle ( J:107697 )

• dystrophic changes in skeletal muscle; however no signs of fibrosis are seen

cardiovascular system

cardiovascular system phenotype ( J:107697 )

N • no cardiac abnormalities are seen

reproductive system

reduced female fertility ( J:107697 )

♀ • females have small litters of up to 5 pups

decreased litter size ( J:107697 )

• females have small litters of up to 5 pups

male infertility ( J:107697 )

♂ • infertile, but with normal testis and sperm morphology and normal sperm motility

behavior/neurological

limb grasping ( J:107697 )

growth/size/body

abnormal tongue muscle morphology ( J:107697 )

• fibers are rounder, vary in size, and infiltration of fat cells is seen

decreased body size ( J:107697 )

• noticeably smaller during the first 2 days after birth

craniofacial

abnormal tongue muscle morphology ( J:107697 )

• fibers are rounder, vary in size, and infiltration of fat cells is seen

digestive/alimentary system

abnormal tongue muscle morphology ( J:107697 )

• fibers are rounder, vary in size, and infiltration of fat cells is seen

cellular

abnormal basement membrane morphology ( J:196379 )

• 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

impaired basement membrane formation ( J:196379 )

• 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