| First Author | Harris BS | Year | 2014 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:213988 |
| Mgi Id | MGI:5586973 | Citation | Harris BS, et al. (2014) The caracul 19 Jackson mutation. MGI Direct Data Submission |
| abstractText | The caracul 19 Jackson mutation, Krt71<Ca-19J>, arose spontaneously in the BALB/cJ inbred strain at The Jackson Laboratory. Heterozygotes have a wavy coat and wavy whiskers. Auditory brainstem response analysis found no hearing deficit in two heterozygous mutants at 68 days of age. Histology of two of three heterozygotes assessed at 9 weeks of age found mild dermatitis on the snout. In one of the two females assessed there were hyperplastic mammary ducts. In a mapping panel generated by outcrossing to 129S1/SvImJ then backcrossing to BALB/cJ this mutation mapped to Chromosome 15 with linkage to rs3699619 at position 93,302,292 bp and rs3724474 at position 74,485,654 bp (GRCm38). Exome sequencing then identified a C to T transition at Chromosome 15 position 101,736,558 bp that is predicted to result in the codon change Gag/Aag and subsequent E440K amino acid change in keratin 71. This provides a model for hypotrichosis 13, which is caused by mutation of the human keratin 71 gene. |
