Irs1^Sml
Spontaneous Allele Detail

Summary

• Symbol: Irs1^Sml
• Name: insulin receptor substrate 1; small
• MGI ID: MGI:3639880
• Synonyms: Irs1^sml
• Gene: Irs1 Location: Chr1:82210822-82269137 bp, - strand Genetic Position: Chr1, 42.0 cM, cytoband C5
• Alliance: Irs1^Sml page

Mutation origin

• Strain of Origin: C3.SW-H2^b/SnJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: This spontaneous mutation has a deletion of one adenine in exon 1 at position 1559 which results in a frameshift leading to a premature stop codon predicted to yield only a 211 amino acid protein rather than the full-length 1233 amino acids. Western blot analysis using a C-terminus specific antibody failed to detect a protein product in liver extracts of homozygotes. (J:163661)
• Inheritance: Semidominant

Expression

In Structures Affected by this Mutation:

8 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:163661 DeMambro VE, et al., A novel spontaneous mutation of Irs1 in mice results in hyperinsulinemia, reduced growth, low bone mass and impaired adipogenesis. J Endocrinol. 2010 Mar;204(3):241-53
• All: 1 reference(s)