| First Author | Karst SY | Year | 2016 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:232317 |
| Mgi Id | MGI:5776514 | Citation | Karst SY, et al. (2016) The trembly lethal mutation (tbyl). MGI Direct Data Submission |
| abstractText | The recessive trembly lethal (tbyl) mutation arose spontaneously in a BALB/cByJ inbred strain at The Jackson Laboratory. By 2 to 3 weeks of age homozygotes are found to have a whole body tremor, the tremor persists, and all homozygotes die between 4 and 5 weeks of age. Histology of one female and one male homozygote at 30 days of age found severe myelin deficiency in the brain and spinal cord. A 129S1/SvImJ female was mated to a heterozygous male and their offspring were intercrossed to generate an F2 population of 12 affected and 12 unaffected mice for mapping. No affected recombinants were found with rs3706767 at Chromosome 18 position 5,207,640 bp or rs3710844 at position 19,096,217 bp (GRCm38) and only 2 recombinants in 12 homozygotes were found with rs3675819 at position 44,617,930 bp. |
