Irs1^smla
Spontaneous Allele Detail

Summary

• Symbol: Irs1^smla
• Name: insulin receptor substrate 1; small phenotype
• MGI ID: MGI:4837622
• Synonyms: Irs1^S57X
• Gene: Irs1 Location: Chr1:82210822-82269137 bp, - strand Genetic Position: Chr1, 42.0 cM, cytoband C5
• Alliance: Irs1^smla page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:164568
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: 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. (J:164568)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Irs1 Mutation: 52 strains or lines available

References

• Original: J:52283 Dougherty KM, et al., The plasminogen activator inhibitor-2 gene is not required for normal murine development or survival. Proc Natl Acad Sci U S A. 1999 Jan 19;96(2):686-91
• All: 5 reference(s)