Mice homozygous for the teetering spontaneous mutation (tn) die between 5 and 6 weeks of age. Homozygous mutant mice are first recognizable at 25 to 30 days by their stiff, slow, unstable movements and their growth retardation. They may assume and maintain unusual postures. Occasionally they have running "fits". Just prior to death they look emaciated and lie on their sides with all limbs extended. In the brainstem and spinal cord there is dysgenesis of selective regions including the pons, trapezoid body, olivary and fastigial nuclei, and the pyramidal tract. There is also progressive Purkinje cell loss. Positional cloning reveals that the teetering, tn, mutation is a single nucleotide substitution (adenine to guanine transition at position 265, M89V)in the
Hgs, HGF-regulated tyrosine kinase substrate, gene.
Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous | a | nonagouti |
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous (Hypomorph) | Hgs | HGF-regulated tyrosine kinase substrate |
Mice homozygous for the teetering spontaneous mutation (tn) die between 5 and 6 weeks of age. Homozygous mutant mice are first recognizable at 25 to 30 days by their stiff, slow, unstable movements and their growth retardation. They may assume and maintain unusual postures. Occasionally they have running "fits". Just prior to death they look emaciated and lie on their sides with all limbs extended. In the brainstem and spinal cord there is dysgenesis of selective regions including the pons, trapezoid body, olivary and fastigial nuclei, and the pyramidal tract. There is also progressive Purkinje cell loss. Positional cloning reveals that the teetering, tn, mutation is a single nucleotide substitution (adenine to guanine transition at position 265, M89V)in the
Hgs, HGF-regulated tyrosine kinase substrate, gene.
The teetering mutation spontaneously arose in the C3H/HeJ inbred strain in 1959 at The Jackson Laboratory. The mutation was backcrossed to C57BL/6J six times and maintained as a sibling mating. In 1979, a high incidence of hydrocephalus in the colony prompted an outcross to B6C3FeF1/J a/a. This strain was cryopreserved as embryos in 1986.
Allele Name | nonagouti |
---|---|
Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | a, nonagouti |
Gene Synonym(s) | |
Strain of Origin | old mutant of the mouse fancy |
Chromosome | 2 |
General Note | Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039 |
Molecular Note | Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for at-2Gso and Aw-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type. |
Allele Name | teetering |
---|---|
Allele Type | Spontaneous (Hypomorph) |
Allele Synonym(s) | |
Gene Symbol and Name | Hgs, HGF-regulated tyrosine kinase substrate |
Gene Synonym(s) | |
Strain of Origin | C3H/HeJ |
Chromosome | 11 |
Molecular Note | A spontaneous A-to-G point mutation results in the amino acid substitution of methionine with valine at position 89 (p.M89V). |
When using the B6C3Fe a/a-Hgstn/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000245 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Homozygous for a, Heterozygous or Homozygous or Wild-type for Hgs<tn>, 1 pair minimum |
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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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