| First Author | Harris BS | Year | 2015 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:223995 |
| Mgi Id | MGI:5661076 | Citation | Harris BS, et al. (2015) The buttery rumpled fur mutation. MGI Direct Data Submission |
| abstractText | The buttery rumpled fur (burf) mutation is recessive and causes homozygotes to have abnormal eyes and a disheveled coat in which the fur appears yellowish in color, like butter, on an otherwise albino background. The eye phenotype varies in severity but the eyelids are delayed in opening often by as much as three months. When the eyelids do open this is usually incomplete resulting in a squinting appearance. In some instances the eyelids open fully as the mouse ages. Additionally, the eyes weep and the skin around the eyes is often reddened. The eye phenotype can become very severe in some homozygotes while in others it may simply diminish with age. Histological assessment found mild hyperkeratosis of the skin in two male homozygotes assessed at eight weeks of age compared with two heterozygous siblings. The burf allele arose spontaneously in a predominantly SWR/J background, in which the X Chromosome had segments from SJL/J and CAST/EiJ, and was backcrossed for seven generations onto SWR/J with no change in phenotype. The homozygotes of both sexes are fertile and live a normal lifespan. Heterozygotes appear normal. ABR analysis of one homozygote and two heterozygous controls at one month of age found no hearing abnormalities. A linkage-testing cross to C57BL/6J produced no affected mice in the F1 population and 13 mutants out of 61 mice (21.3%) in the F2 population. SNP analysis mapped burf to Chromosome 19 between position 25,432,820 bp and 59,969,286 bp (GRCm38). Exome sequencing identified a G to A transition at Chromosome 19 position 46,133,123 bp (GRCm38). This unique, homozygous variant is predicted to affect a splice acceptor site, with high impact on a gene named elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3 (Elovl3). The burf mutation is the first spontaneous allele of Elovl3 with a phenotype similar to that of targeted, null alleles. These similarities suggest that the splice site mutation creates a functional null, although this has not been confirmed with transcript or protein analysis. |
