Rumpshaker mouse: a new X-linked mutation affecting myelination: evidence for a defect in PLP expression.
This report describes a new X-linked mutation in mice, named rumpshaker (rsh) which is associated with hypomyelination of the central nervous system. Myelination commences appropriately but the majority of sheaths fail to develop normally. Oligodendrocytes are increased in number and have prominent Golgi apparatus, rough endoplasmic reticulum and free ribosomes. Occasional cisternae of rough endoplasmic reticulum are distended. Some dense lamellar inclusions occur in oligodendrocytes but overall, degenerative changes and cell death are uncommon. Immunostaining demonstrates a major defect in expression of PLP DM-20. Using site-specific antisera directed at different portions of the PLP/DM-20 molecule, the major defect appears to be with PLP where virtually no myelin sheaths are positive. Antiserum against the C-terminal common to PLP and DM-20 shows reduced but definite myelin staining. Genetic analysis indicates a locus at or close to the PLP/jimpy (jp) locus. The rsh mutation, however, differs from jp in that affected mice have normal longevity, can breed, produce substantially more myelin and have increased numbers of oligodendrocytes.
Department of Veterinary Surgery, University of Glasgow, UK.
I R
IR
Griffiths
I
I
Scott
M C
MC
McCulloch
J A
JA
Barrie
K
K
McPhilemy
B M
BM
Cattanach
D000818:Animals; D005786:Gene Expression Regulation; D051379:Mice; D008809:Mice, Inbred C3H; D008818:Mice, Neurologic Mutants / Q000235:genetics* / Q000254:growth & development / Q000378:metabolism; D008854:Microscopy, Electron; D009185:Myelin Proteins / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D018991:Myelin Proteolipid Protein; D009186:Myelin Sheath / Q000378:metabolism / Q000473:pathology / Q000502:physiology; D012729:Sex Chromosome Aberrations; D013116:Spinal Cord / Q000254:growth & development / Q000378:metabolism / Q000473:pathology*; D014960:X Chromosome
D009185:Myelin Proteins; D018991:Myelin Proteolipid Protein