Phenotypes Associated with This Genotype

Genotype
MGI:6303809

• Allelic Composition: Fkrp^tm1Scbr/?
• Genetic Background: Not Specified

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

nervous system

abnormal radial glial cell morphology ( J:258757 )

• disruption of the radial glial scaffold, with radial glial processes often haphazardly arranged and complete disruption of the glia limitans

abnormal cortical marginal zone morphology ( J:258757 )

• no marginal zone is seen

abnormal Cajal-Retzius cell morphology ( J:258757 )

• majority of Cajal-Retzius cells are located around the anterior cerebral artery and scattered Cajal-Retzius cells are seen within the disorganized cortical plate unlike in wild-type mice where they are present multifocally within the superficial molecular layer

• decrease in the number of Cajal-Retzius cells in the rostral cortex at the level of the corpus callosum and a concurrent increase in the number of Cajal-Retzius cells at the level of the hippocampus, suggesting a failure of tangential migration of these cells

abnormal cortical plate morphology ( J:258757 )

• the cortical plate is not apparent

abnormal cerebellum external granule cell layer morphology ( J:258757 )

• 2 of 5 mice exhibit subtle cerebellar lesions characterized by disruption of the external granule cell layer

hydrocephaly ( J:258757 )

• in 3 of 5 mice

dilated lateral ventricle ( J:258757 )

• 3 of 5 mice exhibit dilation of the lateral ventricles indicative of hydrocephalus

abnormal tectum morphology ( J:258757 )

• abnormalities in the tectum but to a lesser extent than in the cortex

abnormal inferior colliculus morphology ( J:258757 )

• the inferior and superior colliculi are disrupted, with substantial defects in the pia where large numbers of cells form a prominent subarachnoid layer

abnormal superior colliculus morphology ( J:258757 )

• the inferior and superior colliculi are disrupted, with substantial defects in the pia where large numbers of cells form a prominent subarachnoid layer

abnormal dentate gyrus morphology ( J:258757 )

• 2 of 5 mice show disrupted dentate gyrus of the hippocampus

abnormal neocortex morphology ( J:258757 )

• the rostral cortex is disrupted at P0

• rostral cortex shows a complete absence of laminar organization, with no obvious structure to the cortical plate, and fusion of the interhemispheric fissure

• at the hippocampus level, the lateral aspects of the cortex are extensively disrupted while the cortical plate is established and there is incomplete formation of the interhemispheric fissure with interdigitation of neurons from opposing cortical plates

• at the level of the corpus callosum, disorganization is more pronounced laterally

• mice exhibit a rostrocaudal gradient in the severity of brain lesions, with lesions most pronounced in the rostral cortex and progressively milder more caudally

abnormal cerebellar hemisphere morphology ( J:258757 )

• fusion of the cortical hemispheres with interdigitation of neurons from opposing cortical plates

abnormal meninges morphology ( J:258757 )

• leptomeningeal architecture is disrupted, with little distinction between the superficial arachnoid mater, the subarachnoid space, and the pia matter

abnormal brain pia mater morphology ( J:258757 )

• the pia is not apparent

ectopic neuron ( J:258757 )

• large numbers of heterotopic neurons and glial cells are present superficial to the glia limitans, expanding the subarachnoid space

cellular

abnormal radial glial cell morphology ( J:258757 )

• disruption of the radial glial scaffold, with radial glial processes often haphazardly arranged and complete disruption of the glia limitans

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
muscular dystrophy-dystroglycanopathy type B1		DOID:0050588	OMIM:613155	J:258757