The leg dragger 2 Jackson mutation provides a viable mutation in kinesin family member 1A that causes pre-wean hindleg paralysis, whereas a targeted null mutation causes perinatal lethality. This strain provides a model for autosomal recessive spastic paraplegia 30.Read More +
Leg dragger 2 Jackson homozygotes develop progressive hind limb paralysis beginning at approximately 2 weeks of age or thereafter. They lose much of the use of their rear legs such that they drag their rear legs and pull themselves along with their front legs to move. Heterozygotes appear normal and fertile.
The legdragger 2 Jackson mutation arose spontaneously in the C57BL/6J strain at The Jackson Laboratory and has been maintained coisogenic on this background. Sperm was cryopreserved from heterozygous males.
|Allele Name||leg dragger 2 Jackson|
|Gene Symbol and Name||Kif1a, kinesin family member 1A|
|Strain of Origin||C57BL/6J|
|Molecular Note||This spontaneous C-to-T (G-to-A on forward strand) point mutation at chromosome 1 position 93,056,245 bp (GRCm38/mm10) results in a missense mutation (p.R593W).|