| First Author | Cook S | Year | 1993 |
| Journal | Mouse Genome | Volume | 91 |
| Issue | 2 | Pages | 313 |
| Mgi Jnum | J:29019 | Mgi Id | MGI:76645 |
| Citation | Cook S, et al. (1993) New mutation - motor neuron degeneration - mnd. Mouse Genome 91(2):313 |
| abstractText | Full text of Mouse Genome contribution: Notice: Symbol change: The symbol for motor neuron degeneration is changed from Mnd to mnd. rnnd was originally reported as a semi-dominant mutation with reduced penetrance based on 26 obligate heterozygotes that showed mild neurological symptoms at 6 months, with clear histopathological changes in the lumbar spinal motor neurons of the two +/mnd cases examined at that time (Messer and Flaherty, J. Neurogen 3:245;1986). When the strain was imported to The Jackson Laboratory, we were unable to detect behavioral symptoms or pathologic lesions in mnd/+ mice over a year old. Twelve F'2 intercross progeny aged 7 - 9 months were scored visibly and histologically and yielded three (3/12 = 1/4) affected mice (presumably mnd/mnd). Their heterozygous F1 parents (C57BL/6J +/B6.KB2-mnd) were visibly and pathologically normal when sacrificed at one year of age. We also find in the present mnd colony at Albany that heterozygotes cannot be identified either behaviorally (Messer et a1, Genomics 13: 797; 1992) or pathologically. It is unclear whether this change is due to genetic or environmental factors. The mnd mutation arose in a C57BL/6 H-2 recombinant congenic and is maintained with sister x brother matings on this original background both at The Jackson Laboratory and at Albany. The proper strain designation for the mnd strain is B6.KB2-mnd. The H-2 haplotype is H-2b5. The recombination occurred somewhere between Q and Tla so the strain is H-2K<b> D<b> Q<b> T<k>. Since the rnnd strain is homozygous for mnd, C57BL/6J +/+ mice are the closest controls available from The Jackson Laboratory. The mnd mutation is on proximal Chr 8. (S. Cook, M. Davisson, R. Bronson; with A. Messer, Laboratory of Human Genetics, Wadsworth Center for Laboratories and Research, New York State Department of Health, Albany.) |
