The lilting walker spontaneous G244E point mutation causes an ataxic phenotype that differs from that described for other alleles of this gene.
Read More +Genetic Background | Generation |
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000664 C57BL/6J |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous (Not Specified) | Efnb3 | ephrin B3 |
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 mutation arose spontaneously in the C57BL/6J inbred strain at The Jackson Laboratory and has been maintained coisogenic on this background ever since. Sperm was cryopreserved from homozygous males.
Allele Name | lilting walker |
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Allele Type | Spontaneous (Not Specified) |
Allele Synonym(s) | |
Gene Symbol and Name | Efnb3, ephrin B3 |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 11 |
Molecular Note | A spontaneous C-to-T mutation (G-to-A on negative gene strand) results in a glycine to glutamic acid change at codon 244 (p.G244E). |
Homozygotes have successfully bred, but this strain is generally maintained by heterozygous intercrossing
When using the C57BL/6J-Efnb3lltw/GrsrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #016892 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous for lltw |
Frozen Mouse Embryo | C57BL/6J-Efnb3<lltw>/GrsrJ Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | C57BL/6J-Efnb3<lltw>/GrsrJ Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | C57BL/6J-Efnb3<lltw>/GrsrJ Frozen Embryos | $3373.50 |
Frozen Mouse Embryo | C57BL/6J-Efnb3<lltw>/GrsrJ Frozen Embryos | $3373.50 |
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