| First Author | Harris BS | Year | 2014 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:216055 |
| Mgi Id | MGI:5607575 | Citation | Harris BS, et al. (2014) The dilute lethal 34 Jackson mutation. MGI Direct Data Submission |
| abstractText | The dilute lethal 34 Jackson mutation arose spontaneously in the BALB/cJ inbred strain at The Jackson Laboratory. Mice homozygous for this recessive mutation are never able to walk well, can be seen to tilt their heads to the side and fall over, sprawl on their sides extending their legs together and apart, curl in an effort to right themselves, and a few have displayed occasional circling. This phenotype becomes evident beginning at two weeks of age and most die by four weeks of age with none surviving beyond 6 weeks of age. Homozygotes are slightly smaller than normal, and histological assessment did not identify any distinct lesions aside from those expected from wasting. Ophthalmoscopy and auditory brainstem response analysis failed to detect any defects in the eyes or the hearing of two homozygotes at twenty-nine days of age. SNP analysis of an F2 cross to CAST/EiJ mapped this mutation to an interval on Chromosome 9 between 44,143,651 bp and 84,492,219 bp, which includes myosin VA. An allele test between a heterozygote and a dilute lethal 35 Jackson heterozygote produced 5 pups with the same ataxic and premature death phenotype and exome sequencing identified a T to C in Chromosome 9 position 75,140,731 (GRCm38), which is predicted to have a high impact on a splice donor site within Myo5a. Because this mutation arose on an albino background a diluted coat color phenotype was not seen until the mapping cross with CAST/EiJ. |
