Phenotypes for Fkrp MGI:4835416 MGI Mouse

mortality/aging

perinatal lethality, complete penetrance ( J:164634 )

• mice die at or soon after birth

muscle

abnormal extensor digitorum longus morphology ( J:164634 )

• an increase in the percentage of fibers with central nuclei

abnormal tibialis anterior morphology ( J:164634 )

• an increase in the percentage of fibrers with central nuclei

centrally nucleated skeletal muscle fibers ( J:164634 )

• an increase in the percentage of fibers with central nuclei in the tibialis anterior and extensor digitorum longus

decreased skeletal muscle fiber number ( J:164634 )

• fore and hindlimb muscles show a reduction in fiber density

homeostasis/metabolism

edema ( J:164634 )

• muscle oedema

vision/eye

abnormal vitreous body morphology ( J:164634 )

• presence of ectopic nuclei, outside the inner limiting membrane (ILM), within the vitreous body of the mutant

nervous system

abnormal radial glial cell morphology ( J:164634 )

• the radial glia are disorganized and the radial glial endfeet fail to form the glial limitans at the pial surface thus resulting in a disruption of the glial scaffold

abnormal cerebral cortex morphology ( J:164634 )

• clear disruption of the neuronal layering of the cerebral cortex and partial fusion of the intrahemispheric fissue

• a marked alteration in the density and distribution of nuclei at different levels throughout the cortex, and a reduction in the total number of nuclei

growth/size/body

decreased body weight ( J:164634 )

• about one third the wild-type weight at birth

cellular