Phenotypes Associated with This Genotype

Genotype
MGI:5308056

• Allelic Composition: Col4a1^deltaex40/Col4a1⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6J

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

Mislocalization of retinal ganglion cells in Col4a1^deltaex40/Col4a1⁺ eyes

behavior/neurological

decreased grip strength ( J:172720 )

• at 3 months of age, mutants perform worse than controls in a test of peak grip force

homeostasis/metabolism

increased circulating creatine kinase level ( J:172720 )

• mutants exhibit an elevation in creatine kinase activity following exercise compared to controls

muscle

myopathy ( J:172720 )

• mutants exhibit occasional split muscle fibers and an increase in the number of non-peripheral nuclei, indicating myopathy

• severity of myopathy is not markedly affected by age

• Background Sensitivity: level of myopathy is higher on a 129/SvEv and C57BL/6J background than on a CAST/EiJ, 129/SvEv, and C57BL/6J background

nervous system

enlarged brain ventricles ( J:172720 )

• occasionally mutants display enlarged ventricles

abnormal hippocampus morphology ( J:172720 )

• mutants have subtle but consistent neuronal localization defects within the hippocampus

• the CA1, CA3, and dentate gyrus layers of mutants are less tightly organized and more dispersed than wild-type mice

abnormal cerebral cortex morphology ( J:172720 )

• cerebral cortical malformations

• cerebral neuronal localization defects characteristic of cobblestone lissencephaly

delaminated cerebral cortex ( J:172720 )

• all mutants have focal and variable cerebral cortex lamination defects ranging from mild distortions and ectopias to severe heterotoipic regions devoid of obvious lamination

• cortical lamination is disorganized already at E14 and E16

astrocytosis ( J:172720 )

• astrocytic gliosis is seen in the hippocampus and cerebral cortex

abnormal brain pia mater morphology ( J:172720 )

• discontinuous pial basement membranes at P0

abnormal retina ganglion cell morphology ( J:172720 )

• mislocalization and subsequent apoptosis of retinal ganglion cells

optic nerve hypoplasia ( J:172720 )

• optic nerve hypoplasia

vision/eye

optic nerve hypoplasia ( J:172720 )

• optic nerve hypoplasia

microphthalmia ( J:172720 )

abnormal retina morphology ( J:172720 )

• small retinas

abnormal retina vasculature morphology ( J:172720 )

• the hyaloid vasculature in mutant eyes is most often found in the vitreous rather than being closely associated with the inner limiting membrane as in wild-type mice

abnormal retina inner limiting membrane morphology ( J:172720 )

• focal disruptions of the inner limiting membrane

abnormal retina neuronal layer morphology ( J:172720 )

• reduced production of retinal neurons

abnormal retina ganglion cell morphology ( J:172720 )

• mislocalization and subsequent apoptosis of retinal ganglion cells

cardiovascular system

abnormal retina vasculature morphology ( J:172720 )

• the hyaloid vasculature in mutant eyes is most often found in the vitreous rather than being closely associated with the inner limiting membrane as in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Walker-Warburg syndrome		DOID:0050560		J:172720