| First Author | Karst SY | Year | 2016 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:232396 |
| Mgi Id | MGI:5779177 | Citation | Karst SY, et al. (2016) The spontaneous mutation small and shakes (smas). MGI Direct Data Submission |
| abstractText | The recessive small and shakes (smas) mutation arose spontaneously in the strain CByJ.Cg-smsz/GrsrJ at The Jackson Laboratory. Homozygotes are distinctly smaller than unaffected littermates by approximately 5 days of age. At wean age they display a mild whole-body tremor and adults are thinner than normal with persisting whole-body tremor. When raised by the tail they fail to splay their hind legs outward as if due to a weakness in the hind legs. Both male and female homozygotes are poor breeders. The tremor was more apparent in the F2 population of a mapping cross to C57BL/6NJ so the mutation was subsequently maintained on this mixed background. SNP analysis on the F2 population found only one recombinant out of 12 homozygotes with rs3726313 on Chromosome 5 position 100,556,961 bp and three recombinants out of the same 12 homozygotes with rs3670250 at position 119,982,362 bp, indicating that this mutation maps to the distal half of Chromosome 5. |
