Mouse Genome Informatics
hm1
    Sbf2Gt(XH212)Byg/Sbf2Gt(XH212)Byg
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• mild limb clamping seen starting at 2 months of age
• impaired performance on a rotarod at 12 months but not at 4 months of age

nervous system
• some sciatic nerve fibers without myelin misfoldings show widening of the periaxonal space
• infoldings and outfoldings of the entire myelin sheath of sciatic nerve fibers are seen by 3 weeks of age and become progressively more numerous and complex with age
• in ventral and dorsal roots misfoldings are seen faintly at 4 months of age and more obviously at 15 months of age
• infoldings present as finger-like inversions of the sheath or circular inclusions within the nerve fiber that may entrain Schwann cell cytoplasm and displace axoplasm
• complex misfoldings are preferentially found in nodal and paranodal regions
• no gross loss of myelinated axons, Schwann cell onion bulb formations, or abnormalities in myelin compaction or periodicity are detected
• degeneration of whole Scwann cell-axon units in the sciatic nerve are seen sporadically at 4 months and more frequently at 15 months of age
• reduced compound muscle action potential amplitude in the sciatic nerve at 12 months but not at 4 months of age
• F-wave latency is slightly but not significantly increased

reproductive system
N
• unlike mice null for Mtmr2, no signs of impaired spermatogenesis are detected (J:132044)

Mouse Models of Human Disease
OMIM IDRef(s)
Charcot-Marie-Tooth Disease, Type 4b2; CMT4B2 604563 J:133042


Mouse Genome Informatics
cx2
    Mtmr2tm1Ueli/Mtmr2tm1Ueli
Sbf2Gt(XH212)Byg/Sbf2Gt(XH212)Byg

involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• mild limb clamping seen starting at 2 months of age
• impaired performance on a rotarod at 12 months but not at 4 months of age