Essential function of Slmap in embryonic development and skeletal differentiation

Tess Kelly

Document Type

Article

Publication Date

Summer 2022

Keywords

JMG

JAX Location

In: Student Reports, Summer 2022, The Jackson Laboratory

Abstract

Mice represent the preeminent genetic model system for understanding human development and disease. The Knockout Mouse Project (KOMP) is an international effort to systemically identify gene function via targeted mutation of the approximately 20,000 genes comprising the mouse genome via CRISPR-mediated genome editing. The high-throughput phenotyping pipeline employed by KOMP found that mutation of the sarcolemma associated protein Slmap, results in perinatal lethality and a range of skeletal and organ defects. The goal of this proposal is to validate the Slmap KOMP mutation as a null allele, determine its spatiotemporal expression, and define the etiological basis of phenotypes observed in Slmap mutants.

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