Homozygotes are small, and only a fraction survive to weaning and breeding age. This strain may be useful in studies of development.
David Ginsburg, University of Michigan
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous (Null/Knockout) | Irs1 | insulin receptor substrate 1 |
These mice carry a spontaneous nonsense mutation in serine 57 of the Irs1 (insulin receptor substrate 1) gene that, in the homozygous state, produces small mice. Only a fraction of smla homozygotes survive to weaning and breeding age with significant losses beginning at postnatal day 21. Repeated backcrosses to C57BL/6J contributed to marked increases in lethality. Postmortem examination identified no significant gross or microscopic abnormalities aside from proportionally decreased stature and muscle wasting in a subset of mice. Western blot analysis of quadriceps muscle tissue demonstrates no detectable protein in mice homozygous for the mutation.
A spontaneous nonsense C->A point mutation occurred in serine 57 of the Irs1 gene in cultured 129S2/SvPas-derived D3 embryonic stem (ES) cells. ES cell clones were injected into C57BL/6J blastocysts. Mice were mated to B6D2F1 hybrid animals then backcrossed to C57BL/6J six times by the donating investigator.
Allele Name | small phenotype |
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Allele Type | Spontaneous (Null/Knockout) |
Allele Synonym(s) | Irs1S57X |
Gene Symbol and Name | Irs1, insulin receptor substrate 1 |
Gene Synonym(s) | |
Strain of Origin | 129S2/SvPas |
Chromosome | 1 |
Molecular Note | A spontaneous mutation produced a C-to-A transition that results in an amino acid substitution of serine to stop codon at position 57 (p.S57*). The absence of protein expression was confirmed by western blot analysis on muscle extracts. |
When maintained as a live colony, heterozygotes may be bred.
When using the B6.129S2-Irs1smla/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #007240 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or Wild-type for Irs1<tm1Dgi> |
Frozen Mouse Embryo | B6.129S2-Irs1<smla>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129S2-Irs1<smla>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129S2-Irs1<smla>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6.129S2-Irs1<smla>/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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