Journal: bioRxiv
Article Title: Mysm1 mutations in meander tail mice cause anterior-selective cerebellum malformation
doi: 10.64898/2026.02.25.708017
Figure Lengend Snippet: ( A ) Reference (Ref) and 23-bp deletion allele (D32Efs) recovered at exon 2. RNA guide sequence is underlined, with protospacer-adjacent motif shaded. Arrowhead, predicted cleavage site. Lowercase intron, uppercase exon sequences. Asterisk, T>A in mea J . ( B ) Compound mea J /Δ96 heterozygotes had shorter, kinked tails with variegated pigmentation characteristic of mea . ( C ) Classical mea alleles (from stocks carrying closely-linked Lepr db or Dock7 m mutation) and compound heterozygotes between mea J and either mea 2J or D32Efs all showed reductions in white blood cells (WBC), neutrophils (NE), lymphocytes (LY), and red blood cells (RBC), but elevated mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), consistent with the bone marrow failure reported for Mysm1 knockout mice. Mutants in orange, sex-matched littermate controls navy. ( D ) Midline sagittal images illustrate selective reduction of the anterior compartment (folia I-VIa, grey mask) in mea 2J , D32Efs, and compound heterozygous mutations relative to littermate controls. ( E ) Measured areas at midline showed dramatic reductions of the anterior and slight reductions in the posterior cerebellum relative to sex-matched littermates in both females (orange) and males (cyan).
Article Snippet: BKS.Cg– Dock7 m + / + Lepr db (Stock #000700), BKS.Cg– mea J Lepr db / + + (Stock #001192), and BKS.Cg– mea 2J Dock7 m / + + (Stock #001049) were obtained from live colonies and cryopreserved stocks at The Jackson Laboratories, as were mapping partner strains CAST/EiJ (Stock #000928), A/J (Stock #000646), and FVB/NJ (Stock #001800).
Techniques: Sequencing, Mutagenesis, Knock-Out