| First Author | Dionne L | Year | 2014 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:211099 |
| Mgi Id | MGI:5573163 | Citation | Dionne L, et al. (2014) The scrambler 6 Jackson allele of Dab1. MGI Direct Data Submission |
| abstractText | The scrambler 6 Jackson mutation (Dab1<scm-6J>) arose spontaneously at The Jackson Laboratory in 2013 in STOCK Prkaa1<tm1.1Sjm>/J. Homozygotes are smaller than normal by 2 weeks of age, thin, and ataxic. They lean on their sides, unable to right themselves, and all die by 3-4 weeks of age. Histology of two homozygotes at three weeks of age showed hypoplasia of the cerebellum, scattered granule and Purkinje cells, scrambled layers of the hippocampus, and the cerebral cortex lacking the normal layered pattern. One of these homozygotes also had hypoplastic bone marrow and an atrophic thymus consistent with wasting. This mutation was proven to be an allele of Dab1 by failed complementation test with STOCK A/A Dab1<scm>/J, wherein 3 out of 11 pups from the cross had the scrambler phenotype of ataxia and whole body tremor. |
