| First Author | Cutter N | Year | 2017 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:238395 |
| Mgi Id | MGI:5819274 | Citation | Cutter N, et al. (2017) The Purkinje cell degeneration 9 Jackson mutation. MGI Direct Data Submission |
| abstractText | The Purkinje cell degeneration 9 Jackson mutation arose spontaneously at The Jackson Laboratory in the strain 129S6-Batf2<sup>tm1Kmm</sup>/J. Double homozygotes do not have a visible phenotype at 4 weeks of age, develop slight ataxia by 5 weeks of age, and severe ataxia by 6 weeks of age, which is a slightly later onset than pcd homozygotes. Homozygous males have never successfully bred. Fourteen affected mutants and 6 unaffected siblings in the F2 population of an FVB/NJ mapping cross showed perfect linkage to an interval on Chromosome 13 between rs3654710 and rs13481809, and additional mapping reduced the interval to between rs49661044 and rs29544205. Agtpbp1 was a clear candidate gene in this interval and sequence analysis found an insertion of an additional adenine at position 64 of exon 11 in Agtpbp1 creating a frameshift mutation. This is the ninth allele of Agtpbp1 to arise and be characterized at The Jackson Laboratory. Although it has not been characterized in the absence of the Batf2<tm1Kmm> allele, which has not been reported to cause an outward phenotype, we expect that the phenotype of Agtpbp1<pcd-9J> homozygotes in the absence of Batf2<tm1Kmm> will have the same ataxia phenotype and onset consistent with other alleles of this gene. |
