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Spontaneous Allele Detail
Symbol: Irs1Sml
Name: insulin receptor substrate 1; small
MGI ID: MGI:3639880
Synonyms: Irs1sml
Gene: Irs1  Location: Chr1:82210822-82269137 bp, - strand  Genetic Position: Chr1, 42.0 cM, cytoband C5
Strain of Origin:  C3.SW-H2b/SnJ
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
Mutation detailsThis 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
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 9 anatomical structures
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:  33 strains or lines available
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.17
The Jackson Laboratory