Mice that are homozygous for this Vps54 (vacuolar protein sorting 54 (yeast)) spontaneous mutation, wobbler, on the C57BL/6 background are viable, but infertile and die prematurely. Homozygotes exhibit progressive locomotor impairment with corresponding motor neuron and muscular degeneration. Homozygous males have defective spermiogenesis and are sterile. Homozygotes of both sexes have reduced serum estrogen. Mitochondria in motor neurons are abnormal. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy, Distal Hereditary Motor Neuronopathy and Amyotrophic Lateral Sclerosis 1.
Michael Sendtner, University of Wuerzburg
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Vps54 | VPS54 GARP complex subunit |
Mice that are homozygous for this spontaneous mutation on the C57BL/6 background are viable, but infertile and die prematurely. The average lifespan is 3 months, although this can be increased if littermates are present in the cage, the Donating Investigator reports. Homozygotes exhibit progressive locomotor impairment with corresponding motor neuron and muscular degeneration. Homozygous males have defective spermiogenesis and are sterile. Homozygotes of both sexes have reduced serum estrogen. Mitochondria in motor neurons are abnormal. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy, Distal Hereditary Motor Neuronopathy and Amyotrophic Lateral Sclerosis 1.
The mutation was first recorded by Dr. D.S. Falconer at the Institute of Animal Genetics, Edinburgh, Scotland in 1956. The mutation arose in C57BL/Fa. In 1979 mice were obtained from Dr. Richard Sidman (The Childrens Hospital, Boston, MA, USA) by Dr. Harald Jockusch and backcrossed to C57BL/6J at University of Bielefeld (Bielefeld, Germany). In 2006 the strain was moved to Dr. Sendtner's laboratory at the University of Wuerzburg (Wuerzburg, Germany) and backcrossed to C57BL/6J for 7 generations.
Allele Name | wobbler |
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Allele Type | Spontaneous |
Allele Synonym(s) | wr |
Gene Symbol and Name | Vps54, VPS54 GARP complex subunit |
Gene Synonym(s) | |
Strain of Origin | C57BL/Fa |
Chromosome | 11 |
Molecular Note | A T-to-A transversion occurs in the second position of codon 967 in exon 23. This results in a leucine to glutamine amino acid substitution at position 967 (p.L967Q). Gene splicing is not affected by this mutation. All three normal transcripts are detected. |
Mutations Made By | Michael Sendtner, University of Wuerzburg |
When maintaining a live colony, these mice can be bred as heterozygotes. Homozygotes are viable but are infertile and die prematurely.
When using the B6.B-Vps54wr/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #009680 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildytpe for Vps54<wr> |
Frozen Mouse Embryo | B6.B-Vps54<wr>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.B-Vps54<wr>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.B-Vps54<wr>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6.B-Vps54<wr>/J Frozen Embryo | $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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