These mice carry a spontaneous re-mutation at the Sptbn4 locus characterized by quivering, progressive wasting and early mortality.Read More +
The C3H/HeJ background strain is homozygous for the retinal degeneration mutation Pde6brd1, which on this strain background causes blindness by three weeks of age.
Mice homozygous for the recessive Sptbn4qv-lnd2J mutation are identifiable by two weeks of age by their small size relative to their littermates. Their bodies quiver, and their movements are less coordinated than those of littermates. Mutants become progressively wasted and die by four weeks of age. (Cook 1995; Samples 2003) Their phenotype is more severe than that of mice homozygous for the original Spnb4qv-lnd allele, which survive at least 10 months. Sptbn4qv-lnd/Sptbn4qv-lnd mice were found to have dystrophic axons in the lower lumbar and sacral spinal cord. The dystrophic axons were observed in both white and gray matter, but particularly in dorsolateral white matter (Bronson et al. 1992). The acoustic brainstem response ABR) pattern of Sptbn4qv-lnd2J homozygous mice exposed to click stimuli of 80, 70, 60 and 50 decibels exhibited only the first expected peak, indicating the mice have normal cochlear function but attenuated brainstem response (Zheng 2003). The similar ABR pattern of an Sptbn4qv mouse may be viewed the following Auditory-Evoked Brainstem Response (ABR) Thresholds web page. Note that this was generated using lower-volume clicks than for Sptbn4qv-lnd2J.
|Allele Name||lumbosacral neuroaxonal dystrophy 2 Jackson|
|Gene Symbol and Name||Sptbn4, spectrin beta, non-erythrocytic 4|
|Strain of Origin||C3H/HeJ|
|Molecular Note||This allele was identified by a noncomplementation test with Sprb4 |
When using the lumbosacral neuroaxonal dystrophy 2 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #002433 in your Materials and Methods section.