| First Author | Cook S | Year | 1997 |
| Journal | Mouse Genome | Volume | 95 |
| Issue | 1 | Pages | 162 |
| Mgi Jnum | J:39099 | Mgi Id | MGI:86480 |
| Citation | Cook S (1997) Remutation - lumbosacral neuroaxonal dystrophy 2J (lnd2J) remutation to quivering (qv). Mouse Genome 95(1):162 |
| abstractText | Full text of Mouse Genome contribution: Remutation: lumbosacral neuroaxonal dystrophy 2J (lnd2J) reported in Mouse Genome 93(4) Dec. 1995, p. 1030 has been found to be a remutation to quivering (qv). Since both mutations map to proximal Chr 7 and aged qv homozygotes develop hindlimb paralysis visibly similar to lnd homozygotes, qv alleles were retrieved from TJL Frozen Embryo Repository (FER). C3FeB6-A/Aw-J-qvJ/+ x C3H/HeJ-lnd2J/+ yielded 2 affected mice from a total of 18. C57BL/6J-qv3J/+ x C3H/HeJ-lnd2J/+ yielded 5 affected mice from a total of 19 including 2 pups missing before being typeable. To resolve the possibility that the C3H/HeJ-lnd2J/+ strain might be carrying 2 spontaneous mutations, i.e. both lnd and qv, the original C57BL/6J-lnd was also retrieved from TJL FER. qvJ/+ x lnd/+ yielded 13 affected progeny from a total of 46. qvJ/qvJ x qv3J/+ gave 1 affected from a total of 4 and lnd/+ x lnd2J/+ gave 1 affected from a total of 5. The lnd strains have thus been renamed C57BL/6J-qvlnd and C3H/HeJ-qvlnd2J/+. Although a negative test for allelism between lnd and qv was originally reported (Bronson et al., J. Neurogenet. 1992; 8:71) the more comprehensive studies reported here clearly show lnd and qv are alleles. Mutants from various allele combinations are currently being tested for ABR (auditory brainstem response) since qv is reported to cause deafness of central origin. Histopathologic analysis of various allele combinations is also underway to study the hindlimb progressive spastic paresis. (Sue Cook) |
