Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

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
Alliance:	Irs1Sml page

Strain of Origin:

C3.SW-H2b/SnJ

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

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:	51 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)