These mice carry an ENU-induced mutation characterized by ataxia in the hind limbs.
The Jackson Laboratory cannot guarantee that cryorecovery of strains from the discontinued NIH-funded Neuroscience Mutagenesis Facility (NMF) will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.Read More +
This phenotype becomes visible at 4 weeks of age (+/- 0.4, n=14); the mutants are smaller than their littermates and have difficulty supporting their weight on their hind limbs, which they drag intermittently. Mobility is limited but the mice are able to move around slowly. When the mice are lifted by their tail, the hind limbs may show typical extension initially but then are quickly clasped to the body.
Mapping results showed NMF261 to be nonrecombinant with D7Mit266 +/- 5.5 cM (one-sided 95% confidence limit; n=19 affected, n=14 unaffected F2); however, further information was obtained through a complementation test with Sptbn4qv-lnd (Stock No. 001769), i.e.the results of one heterozygote mating between NMF261 and Sptbn4 resulted in 2 affected mice in a total of 8 progeny, suggesting NMF261 to be an allele of Sptbn4qv-lnd. Standard pathology work-up on three mutants (43, 49, or 88 days of age) revealed no abnormalities; whole muscle mounts of the hind limb of the older mouse stained with fluorescent-labeled bungarotoxin, SV2, and SMI 31 also revealed no abnormalities.
Male or female mutants have been produced, however, a colony has to be maintained through ovarian transplants.
This phenotypic deviant was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males (Stock No. 000664), in the Neuroscience Mutagenesis facility at The Jackson Laboratory. Mutagenized males were crossed to C57BL/6J females; G3 descendants of the mutagenized males were selected for neurological impairment.
|Allele Name||quivering 7 Jackson|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||neuroscience mutagenesis facility, 261; NMF261; Spnb4nmf261|
|Gene Symbol and Name||Sptbn4, spectrin beta, non-erythrocytic 4|
|Strain of Origin||A.B6-Tyr+/J|
|Molecular Note||This phenotypic mutation was identified in an ENU mutagenesis screen and shown to be an allele of Spnb4 by complementation testing versus the lumbosacral neuroaxonal dystrophy mutation of this gene.|
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