| First Author | Kane CC | Year | 2014 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:213055 |
| Mgi Id | MGI:5582817 | Citation | Kane CC, et al. (2014) Little Ear 3 Jackson, A New Remutation of the Prkra gene on Chromosome 2. MGI Direct Data Submission |
| abstractText | The little ear 3 Jackson mutation (<i>Prkra<sup>lear-3J</sup></i>) arose spontaneously in the B6.B10ScN-<i>Tlr4<sup>lps-del</sup></i>/JthJ strain at The Jackson Laboratory in 2010. Homozygotes can be recognized by two weeks of age by their smaller ear pinnae. Homozygotes are infertile and slightly smaller than normal. The recessive mode of inheritance was determined by crossing an unaffected female sibling of a mutant to C57BL/6J. This mating cross produced no affected F1 animals, but when these unaffected F1 hybrid mice were intercrossed they produced some normal offspring and some offspring with small ear pinnae and body size. The eyes of 2 affected and 2 control mice at approximately eight weeks of age were checked with an ophthalmoscope and found to be normal, but auditory brain stem response testing was performed on the same animals and <i>Prkra<sup>lear-3J</sup></i> homozygotes were found to have severe hearing loss. When the <i>Tlr4<sup>lps-del</sup></i> mutation was bred out of this line by backcrossing to C57BL/6J the short ear small body phenotype did not change so the <i>Tlr4<sup>lps-del</sup></i> mutation did not impact the phenotype. Because of the phenotypic similarity with the original little ear mutation an allele test was done between mice heterozygous for this new mutation and mice heterozygous for <i>Prkra<sup>lear</sup></i> and their offspring included pups with small ears, confirming allelism with <i>Prkra<sup>lear</sup></i>. Sequencing all of the exons of <i>Prkra</i> identified only one SNP, a G to A transition on Chromosome 2 position 76,643,218 bp (GRCm38), which is just after exon 3 and likely disrupts RNA splicing of the pre-mRNA. The authors thank Bo Chang for eye examinations, and Chantal Longo Guess for hearing evaluations. |
