Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names B6.129S2-Irs1tm1Dgi/J    (Changed: 25-JAN-11 ) Type Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation N6pN1 Generation Definitions   Donating Investigator David Ginsburg,   University of Michigan

Description
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.

Development
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.

Related Strains

Strains carrying other alleles of Irs1

001768

C3.Cg-Irs1Sml H2b/GrsrJ

View Strains carrying other alleles of Irs1     (1 strain)

Additional Web Information

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Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Diabetes Mellitus, Noninsulin-Dependent; NIDDM   (IRS1) Insulin Receptor Substrate 1; IRS1   (IRS1)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Irs1^smla/Irs1^smla

        involves: 129S2/SvPas * C57BL/6J

• mortality/aging
• postnatal lethality
  • mice further backcrossed to C57BL/6J (N3-N4) exhibit less than 2% survival at 2 weeks of age unlike mice backcrossed to 129S1/SvImJ   (MGI Ref ID J:164568)
• premature death
  • mice exhibit decreased long term survival   (MGI Ref ID J:164568)
• growth/size phenotype
• decreased body size   (MGI Ref ID J:164568)

Irs1^smla/Irs1^smla

        involves: 129S1/SvImJ * 129S2/SvPas * C57BL/6

• mortality/aging
• *normal* mortality/aging
  • postnatal survival is normal unlike mice backcrossed to C57BL/6J   (MGI Ref ID J:164568)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Developmental Biology Research
Growth Defects
      Growth Defects (homozygous)
Postnatal Lethality

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Irs1smla
Allele Name		small phenotype
Allele Type		Spontaneous
Common Name(s)		Irs1S57X;
Strain of Origin		129S2/SvPas
Gene Symbol and Name		Irs1, insulin receptor substrate 1
Chromosome		1
Gene Common Name(s)		G972R; HIRS-1; IRS-1; IRS1IRM;
Molecular Note		A spontaneous mutation produced a C to A transition that results in an amino acid substitution of a stop codon for serine at position 57 (S57X). The absence of protein expression was confirmed by western blot analysis on muscle extracts. [MGI Ref ID J:164568]

Genotyping

Genotyping Information

Genotyping Protocols

Irs1^tm1Dgi, Pyrosequencing

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Irs1^smla related

Dougherty KM; Pearson JM; Yang AY; Westrick RJ; Baker MS; Ginsburg D. 1999. The plasminogen activator inhibitor-2 gene is not required for normal murine development or survival. Proc Natl Acad Sci U S A 96(2):686-91. [PubMed: 9892694]  [MGI Ref ID J:52283]

Westrick RJ; Mohlke KL; Korepta LM; Yang AY; Zhu G; Manning SL; Winn ME; Dougherty KM; Ginsburg D. 2010. Spontaneous Irs1 passenger mutation linked to a gene-targeted SerpinB2 allele. Proc Natl Acad Sci U S A 107(39):16904-9. [PubMed: 20837540]  [MGI Ref ID J:164568]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Breeding & Husbandry	When maintained as a live colony, heterozygotes may be bred.

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The Jackson Laboratory's Genotype Promise

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.

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