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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
gene trap RRF511, BayGenomics
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
Sbf2Gt(RRF511)Byg/Sbf2Gt(RRF511)Byg involves: 129P2/OlaHsd * C57BL/6 MGI:3783887

involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sbf2Gt(RRF511)Byg mutation (1 available); any Sbf2 mutation (55 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Peripheral neuropathology in Sbf2Gt(RRF511)Byg/Sbf2Gt(RRF511)Byg mice

nervous system
• 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
• decreased motor nerve conduction velocity at 8 months of age

• 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.12
The Jackson Laboratory