| First Author | Harris BS | Year | 2016 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:233145 |
| Mgi Id | MGI:5780858 | Citation | Harris BS, et al. (2016) Subtle leaner: a recessive leaning mutation. MGI Direct Data Submission |
| abstractText | The autosomal recessive mutation subtle leaner (sule) arose in the strain B6;C3Fe-Wnt7a<px-2J>/GrsrJ at The Jackson Laboratory. By three weeks of age homozygotes lean in a subtle sideways tilt and are slightly smaller than their unaffected littermates. Three of seventeen breeder pairs set up using both male and female homozygotes proved non-productive. This strain has been maintained primarily by sibling intercrossing heterozygotes with homozygotes or homozygotes with heterozygotes. The average litter size is 4.26 pups per litter out of 54 litters assessed. Of 230 pups, 43 (18.7%) developed the sule phenotype, 12 were born dead and an additional 24 were missing prior to phenotypic assessment. If the born dead and missing are assumed homozygous, the percent homozygotes would only be 27%, which is only slightly more than half of the expected yield for intercrossing homozygotes with heterozygotes. Heterozygous pairs were mated to check penetrance and this yielded 3 progeny born dead, 15 missing prior to phenotypic assessment, and 22 affected offspring out of 194 total progeny. This is 11.3% affected animals at wean age and if all dead pups are assumed homozygous then only 20.6 % affected were produced, again less than expected and indicative of prenatal death or incomplete penetrance. A preliminary mapping intercross with FVB/NJ produced 6 clearly affected mutants, 1 possibly affected, and 17 unaffected in the F2 population, a yield of approximately 25%. With only 1 recombinant in the 6 affected mice with rs3719379 at Chromosome 6 position 101,122,616 bp and a separate recombinant with rs3710839 at Chromosome 6 position120,481,579 bp, there is a suggestion that sule may map to Chromosome 6. Histology of one male at 28 days of age found no lesions other than retinal degeneration, which was likely due to the C3HeB/FeJ-derived rd1 mutation. |
