ECTS Abstracts (2015) 1 P241

Connecting to Bone Data from the International Knockout Mouse Consortium (IKMC) and Other Databases

Robert Brommage1 & Serge Ferarri2

1Lexicon Pharmaceuticals, The Woodlands, Texas, USA; 2Geneva University Hospital, Geneva, Switzerland.

The IKMC is analysing multiple phenotypes in adult KO mice for all 20,000+ protein-coding genes. Data are available at the International Mouse Phenotyping Consortium (IMPC) website and KO mice generated can be readily obtained. KO of approximately 30% of genes results in lethality. Body BMD values for males and females provide an initial characterisation of skeletal KO phenotypes. High-resolution radiographs provide dysmorphology information, such as digit, spine and craniofacial abnormalities. The MGI Gene Expression Database (GXD) provides RNA expression profiles for multiple tissues, including bone. The JAX Cre Repository contains over 300 Cre tool mouse strains. Mutant mice available are listed on website of the IMPC, MGI and Mutant Mouse Regional Resource Centers. JAX, Welcome Trust Sanger Institute, MRC Harwell, and German Mouse Clinic websites, among others, often have more comprehensive data than the IMPC website. These resources provide valuable information to the bone community. For any candidate gene of interest, IMPC data showing lethality, the lack of a bone phenotype, the presence of a bone phenotype, and/or the presence of non-skeletal phenotypes can guide decisions for individual laboratories. The IMPC database currently provides complete phenotype data for 492 KO mouse genes with phenotyping underway for an additional 767 KOs. The number of genes examined is anticipated to increase rapidly during the next few years. Efforts are underway with BoneKEy to develop an annotated web database focused on IMPC bone data. Two examples are informative. Confirming published data on Lrrk1 osteopetrotic KO mice, body BMD is elevated in IMPC KO mice. A separate KO mouse, available from JAX and involving a different KO strategy, shows neonatal lethality. Confirming published data on Wnt16 KO mice suffering spontaneous fractures from reduced cortical bone mass, IMPC KO mice also exhibit spontaneous fractures. Wnt16 expression is restricted to bone, testes and the vasculature.

Disclosure: The authors declared no competing interests.

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