Mutant mice exhibit hind limb atrophy and a progressive decrease in body weight leading to paralysis and premature death.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Uchl1 | ubiquitin carboxy-terminal hydrolase L1 |
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 |
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Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | Uchl1, ubiquitin carboxy-terminal hydrolase L1 |
Gene Synonym(s) | |
Strain of Origin | (WC/ReJ KitlSl x B6.D2-KitlSl-d/J)F1-KitlSl/KitlSl-d/J |
Chromosome | 5 |
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.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Uchl1<gad-2J> |
Frozen Mouse Embryo | B6.Cg-Uchl1<gad-2J>/GrsrJ | $2595.00 |
Frozen Mouse Embryo | B6.Cg-Uchl1<gad-2J>/GrsrJ | $2595.00 |
Frozen Mouse Embryo | B6.Cg-Uchl1<gad-2J>/GrsrJ | $3373.50 |
Frozen Mouse Embryo | B6.Cg-Uchl1<gad-2J>/GrsrJ | $3373.50 |
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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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