Mice homozygous for the lilting walker mutation have difficulty righting themselves as early as 12 days of age and adults exhibit a pronounced leaning gait in which they briefly walk straight then tilt their head and then their body firmly over toward one side before righting themselves and leaning way over to the other side. While this phenotype suggests a cerebellar defect, H&E staining of serial sections of the cerebellum from one 21-week-old female did not reveal any abnormalities. Standard pathology of one homozygous female at 4 weeks of age revealed deficient peripheral myelin, however assessment of two homozygous females at 12 weeks of age revealed no abnormalities other than mild otitis in one ear of one mutant and one ear of one heterozygous control. No abnormalities were found in the heart or blood vessels. Ophthalmoscopy of 2 male homozygotes at approximately 12 weeks and ABR assessment of two homozygotes at approximately 8 weeks of age did not reveal abnormal vision or hearing. The lltw mutation is recessive and the phenotype shows the expected Mendelian ratio for a recessive mutation while maintained on a C57BL/6J background, but when outcrossed to C3H/HeSnJ the F2 population showed only 7% homozygotes.

The lilting walker spontaneous G244E point mutation causes an ataxic phenotype that differs from that described for other alleles of this gene.

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C57BL/6J-Efnb3<lltw>/GrsrJ Frozen Embryos