Figure 1. Phenotypes of homozygous pale tremor mice.
a, Diluted pigmentation of the pale tremor mouse (plt) compared with the wild-type (+/+) mouse. b, Abnormal limb postures. c, Juvenile lethality of F2 mice from the CAST/Ei cross (n = 50). d, RT–PCR of Fig4 transcript from brain with primers in indicated exons. e, Northern blot containing 3 mg of brain polyA+RNA, isolated at P7 before extensive neurodegeneration, using a 1 kb Fig4 cDNA probe (exons 8–15). RNA integrity and equal loading of samples is indicated by the intensity of minor bands (9–10 kb). f, Long-range PCR of genomic DNA with primers in intron 18 and exon 19. g, Three-primer genotyping assay for Fig4 produces 646 bp wild-type and 245 bp Fig4paletremor products. LTR, long terminal repeat. Molecular weight markers in e–g are given in kb. h, ETn2β retrotransposon in intron 18 of Fig4. i, Altered abundance of PtdIns(3,5)P2 in cultured fibroblasts. *Significant difference at P <0.05. Data are expressed as mean ± s.d. (n = 6).