| First Author | Karst SY | Year | 2014 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:214794 |
| Mgi Id | MGI:5604020 | Citation | Karst SY, et al. (2014) A spontaneous mutation in mouse Myo10. MGI Direct Data Submission |
| abstractText | The Myo10<m1J> mutation arose spontaneously in the strain B6.129S2-Cd4<tm1Mak>/J at The Jackson Laboratory in early 2012. This recessive mutation causes white spots on the belly and, more rarely, on the back of an otherwise black C57BL/6J coat. Homozygotes are slightly smaller than normal, often have irregular regions of diminished pigment on the tail, and also have fused digits on either or both of the front feet. This syndactyly has not been found in the digits of the hind feet. This phenotype did not change when the Cd4<tm1Mak> allele was bred out of the line. Auditory brainstem response was assessed in two homozgyotes and unaffected sibling controls when the Cd4<tm1Mak> mutation had not yet been bred out of the mutant subline and both homozygotes displayed elevated thresholds at all frequencies tested. The eyes of two homozygotes were assessed by fundus photography and optical coherence tomography. At 8 weeks of age the right eye of one homozygote showed a thick and cloudy cornea and an iris coloboma while the left eye had a normal lens and cornea but a slight iris coloboma and persistent hyaloid vasculature. At 18 weeks of age the right eye of one homozygote, which appeared normal by fundus photography, had significant hyaloid vasculature and a white spot at the bottom of the lens, which may have been the beginning of a cataract, while the left eye, which also appeared normal by fundus photography, also had persistent hyaloid vasculature. SNP analysis of an F2 cross to C57BL/6NJ mapped this mutation to an interval on Chromosome 15 proximal to 61,525,291 bp, and exome sequencing identified an 8 base pair deletion beginning at Chromosome 15 position 25,781,265 bp. This deletion is predicted to result in a frameshift within the coding sequence for myosin 10 (Myo10). |
