| First Author | Harris BS | Year | 2016 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:230486 |
| Mgi Id | MGI:5760262 | Citation | Harris BS, et al. (2016) The sombre 4 Jackson mutation. MGI Direct Data Submission |
| abstractText | The sombre 4 Jackson mutation arose spontaneously in the B6.129S7-Ldlr<tm1Her>/J strain at The Jackson Laboratory. Heterozygotes have darker ears and tail than do wild-type siblings. Ophthalmoscopic examination of 3 male heterozygotes at approximately 8 weeks of age found no defects and auditory brainstem response was normal for 3 mutants at approximately 10 weeks of age. Subsequent to mapping this mutation to Chromosome 8, with only 4 of 29 heterozygotes showing recombination with rs3686697 at position 117,165,434 bp (GRCm38), exome sequencing identified a G to A transition at Chromosome 8 position 123,407,783 (GRCm38). This is predicted to cause an E92K missense mutation in the melanocortin 1 receptor. This is the identical molecular mutation as that found in the sombre 3 Jackson mutation, which arose spontaneously in the CBA/J inbred strain over a quarter of a century earlier than sombre 4 Jackson. |
