Homozygotes are normal in appearance until 6 or 7 weeks of age when weakness of the hindlimbs begins to present through limb grasping or dragging or splaying of the hindlimbs when walking. A progressive decrease in body weight begins at 12 weeks of age and the hind limb atrophy progresses to paralysis and premature death. Homozygotes are not able to breed.
The gracile axonal dystrophy 2 Jackson mutation arose spontaneously on WCB6F1 KitlSl/KitlSl-d in 2005 and was made congenic on the C57BL/6J background by 7 cycles of ovarian transplant backcross-intercross breeding after which the strain has been maintained by breeding a homozygous ovarian transplant host to a +/? sibling of the ovary donor then intercrossing the obligate heterozygous offspring.
|Allele Name||gracile axonal dystrophy 2 Jackson|
|Gene Symbol and Name||Uchl1, ubiquitin carboxy-terminal hydrolase L1|
|Strain of Origin||(WC/ReJ KitlSl x B6.D2-KitlSl-d/J)F1-KitlSl/KitlSl-d/J|
|Molecular Note||A single C-to-A point mutation was identified in exon 4, causing a change of alanine codon 96 to glutamic acid (p.A98E).|
When using the gracile axonal dystrophy 2 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #013110 in your Materials and Methods section.