| First Author | Karst SY | Year | 2014 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:212310 |
| Mgi Id | MGI:5578534 | Citation | Karst SY, et al. (2014) The hotfoot 18 Jackson mutation. MGI Direct Data Submission |
| abstractText | The hotfoot 18 Jackson mutation arose spontaneously at The Jackson Laboratory in early 2011 in the strain B10.D2-Hc<1> H2<d> H2-T18<c>/nSnJ. Homozygotes have a staggering gait with hesitant placement of the feet, similar to that seen for other hotfoot mutants. Auditory brainstem response assessment of one homozygote and one sibling control mouse at 107 days of age showed that the homozygote was deaf. Homozygous females breed, yet males failed to reproduce. However, cryopreserved sperm from homozygous males can be thawed successfully and used for fertilization in vitro to produce heterozygous pups. Using an F2 mapping population involving FVB/NJ this mutation was mapped to Chromosome 6 between positions 23,207,025 bp and 98,102,692 bp (GRCm38). Exome sequencing suggested that this mutant may have a deletion encompassing exons 3 and 4 of Grid2, consistent with the phenotype and map location. RT-PCR of RNA extracted from brain tissue revealed aberrant Grid2 transcript. |
