Phenotypes Associated with This Genotype

Genotype
MGI:3783887

• Allelic Composition: Sbf2^{Gt(RRF511)Byg}/Sbf2^{Gt(RRF511)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Peripheral neuropathology in Sbf2^{Gt(RRF511)Byg}/Sbf2^{Gt(RRF511)Byg} mice

nervous system

abnormal myelin sheath morphology ( J:133391 )

• myelin infolds and outfolds are seen on nerve fibers of the sciatic and saphenous nerves

• outfolds are seen on both small and large caliber fibers and consist of one or more satellite loops of myelin that sometimes contain axoplasm-like material

• infolds consist of myelin folded into the axon and may dramatically alter the profile of the axon

• infrequently fibers may contain both infolds and outfolds

• the percentage of fibers with infolds or outfolds increases with age as does the complexity of the folds

• folds are most prominent adjacent to nodes of Ranvier which alter the shape of the node but do not affect its overall organization

• however, myelin thickness is not decreased, degenerating axons are only rarely seen and onion bulb formations seen in human patients with CMT4B are not seen

abnormal nerve conduction ( J:133391 )

• decreased motor nerve conduction velocity at 8 months of age

behavior/neurological

abnormal posture ( J:133391 )

• some older mice display wide placement of the hind limbs when placed on a flat surface

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 4B2		DOID:0110190	OMIM:604563	J:133391