Phenotyping pipeline design

Broad phenotypic characterization of emerging mouse models will add important value and greatly enhance their utility to the scientific community. The extensive library of single-gene knockout strains generated through the KOMP program will become significantly more valuable with comprehensive assessments of the functional consequences of removing one gene.

Effective high-throughput mouse phenotyping is therefore critically important to establish baseline genotype/phenotype understanding for functional analysis of the KOMP resource. The Jackson Laboratory KOMP Phenotyping Center provides a powerful and efficient phenotyping pipeline to assess the physiological, behavioral and morphological effects of eliminating a single gene.

The JAX KOMP Phenotyping Center will:

• Screen 1857 knockout lines between 2-5 months of age for more than 200 phenotypic traits spanning multiple organ systems
• Repeat phenotypic trait screening on 150 of these knockout lines between 15-18 months of age to identify abnormalities that develop later in the animal’s life
• Perform quantitative and qualitative assessment of phenotypes for each mutant line using automated calling procedures and technical, statistical and scientific review.
• Deliver per-mouse phenotypic data to the KOMP2 Data Coordination Center Database

Phenotyping pipeline design

The JAX KOMP2 pipeline design is based upon previous large-scale, high-throughput phenotyping programs carried out at The Jackson Laboratory, selecting from them the most successful and high-throughput procedures. We have also integrated global recommendations of theInternational Mouse Phenotyping Consortium (IMPC), which identified important parameters that will collectively summarize the consequences of removing the function of a single gene in the context of the whole animal. The pipeline also includes additional disease-relevant phenotypes based on proven protocols and expertise from additional internal and external investigators that comprise our panel of JAX KOMP2 Domain Experts.