Phenotypes Associated with This Genotype

Genotype
MGI:5528810

• Allelic Composition: Cadm4^tm1.1Pele/Cadm4^tm1.1Pele; Tg(Pgk1-cre)1Lni/0
• Genetic Background: involves: 129S/SvEv * 129S4/SvJaeSor * BALB/c * C57BL/6

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

behavior/neurological

limb grasping ( J:199632 )

• display spastic leg extension and enhanced clasping reflex when suspended by the tail

impaired coordination ( J:199632 )

• tend to stagger

• fall more rapidly from a rotarod

abnormal limb posture ( J:199632 )

• hind limb rigidity during their first 3 weeks of life

nervous system

abnormal myelin sheath morphology ( J:199632 )

• display a range of abnormalities including tomacula, comma shaped myelin outfolds and redundant myelin profiles

• in some cases the tomacula are accompanied with myelin degeneration around the axon and axonal displacement

• redundant outfoldings are present in the Schwann cell cytoplasm, between the myelin sheath and axon, and are located near paranodes and Schmidt-Lanterman incisures

• at 2 weeks of age detachment of the myelin sheath from the axon at the inner mesaxon and the presence of multiple inner myelin lips are seen

• abnormalities are detected during the first postnatal week

abnormal paranode morphology ( J:199632 )

• abnormal splitting of the paranodal loops

abnormal myelination ( J:199632 )

• at P1 and P3 fewer axons display myelin profiles compared to controls

decreased nerve conduction velocity ( J:199632 )