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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sbf2Gt(RRF511)Byg
gene trap RRF511, BayGenomics
MGI:3783290
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sbf2Gt(RRF511)Byg/Sbf2Gt(RRF511)Byg involves: 129P2/OlaHsd * C57BL/6 MGI:3783887
cx2
Sbf1em1Frobi/Sbf1em1Frobi
Sbf2Gt(RRF511)Byg/Sbf2Gt(RRF511)Byg
involves: 129P2/OlaHsd * C57BL/6N MGI:7316772


Genotype
MGI:3783887
hm1
Allelic
Composition
Sbf2Gt(RRF511)Byg/Sbf2Gt(RRF511)Byg
Genetic
Background
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 (104 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

behavior/neurological
• 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




Genotype
MGI:7316772
cx2
Allelic
Composition
Sbf1em1Frobi/Sbf1em1Frobi
Sbf2Gt(RRF511)Byg/Sbf2Gt(RRF511)Byg
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sbf1em1Frobi mutation (1 available); any Sbf1 mutation (43 available)
Sbf2Gt(RRF511)Byg mutation (1 available); any Sbf2 mutation (104 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die during late gestation or within a few hours of birth
• however, overt morphological defects are not apparent

growth/size/body
• E13-15 mutants are smaller

nervous system
N
• nerve bundles in pinna appear morphologically normal





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory