C3.Cg-Kif1a^lgdg/GrsrJ

Stock number: 016894
Product name: legdragger
Research areas: Developmental Biology Research, Neurobiology Research

Description

The leg dragger 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.

Detailed description

Leg dragger homozygotes are slightly smaller than their unaffected littermates and lose most of the use of their rear legs such that they drag their rear legs and pull themselves along with their front legs to move. This phenotype can be detected as early as 2 weeks of age and is evident by 3 weeks of age. A few homozygotes nearing wean age are found to roll over and over in a struggle to right themselves. When raised by their tails they do not splay their legs outward but rather cross the front pair and the rear pair. Auditory brainstem response analysis of one homozygous animal at 18 days of age showed severe hearing loss and no others were tested. Heterozygotes appear normal and fertile but produce slightly fewer homozygotes than the 25% expected when intercrossed.

Development

The leg dragger mutation (Kif1a^lgdg) arose spontaneously on the C3.NB-H2^p H2-T18^c?/SnJ background. Before 2015, sperm was cryopreserved from heterozygous males at generation +F7.
To establish a live Kif1a^lgdg mutant colony in 2017, The Jackson Laboratory Repository used an aliquot of the frozen sperm to fertilize oocytes from C3H/HeJ inbred females (Stock No. 000659 [H2^k]). Rederived Kif1a^lgdg mice were then bred to wildtype littermates or to C3H/HeJ mice. The H2 haplotype of the live Kif1a^lgdg colony has not been assessed.

Allele

Symbol: Kif1a^lgdg
Name: leg dragger
MGI accession ID: MGI:5749650
Generation method: Spontaneous
Attributes: Not Specified
Marker symbol: Kif1a
Marker name: kinesin family member 1A
Chromosome: 1
Strain of origin: C3.NB-H2^p H2-T18^c?/SnJ
Molecular note: A spontaneous C-to-T (G-to-A on forward strand) point mutation at chromosome 1 position 93,076,218 bp (GRCm38/mm10) causes a p.L181F mutation (Ctc to Ttc).