These mice carry an ENU-induced mutation and exhibit abnormal hind limb movement.
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 +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Chemically induced (ENU) (Hypomorph) | Usp14 | ubiquitin specific peptidase 14 |
The hind limbs of mutants appear to be weak, lag behind during movement or show intermittent spasms, which may extend or contract the leg; front limbs might also show intermittent spasms. When picked up by their tail, the hind limbs of these mutants remain together. These mutants are also smaller than their unaffected littermates, and their hind quarters can appear wasted. The phenotype becomes apparent at 3 weeks of age (average, +/- 0.5 weeks; n=34). Brain and spinal cord histology performed on four mutants (40, 80, 86 or 113 days of age) showed dystrophic axons in the spinal cord of the youngest, and degeneration of the spinal cord white matter and dystrophic axons in the brain stem of the oldest mutant. The colony needs 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.
Allele Name | neuroscience mutagenesis facility, 375 |
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Allele Type | Chemically induced (ENU) (Hypomorph) |
Allele Synonym(s) | NMF375 |
Gene Symbol and Name | Usp14, ubiquitin specific peptidase 14 |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 18 |
Molecular Note | ENU mutagenesis induced a T to C transition in position 4 of the splice site donor region of intron 9. Western blot anlaysis confirmed the absence of protein expression in the spinal cord without the detection of truncated proteins. Authors state that this allele is hypomorphic based on phenotypic analysis. |
When using the B6;CByJ-Usp14nmf375/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #005750 in your Materials and Methods section.
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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