Primary Identifier | MGI:88266 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 12336 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcium-dependent cysteine-type endopeptidase activity. Predicted to be involved in protein catabolic process. Predicted to be located in cytosol and membrane. Predicted to be part of calpain complex. Is expressed in medulla oblongata basal plate mantle layer; nucleus pulposus; pons mantle layer; and ventral grey horn. Orthologous to human CAPNS1 (calpain small subunit 1). PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality around E11.5. Mutant embryos exhibit cardiac developmental defects, reduced yolk sac vasculature, hemorrhaging in the area between the embryo and amnion, and accumulation of nucleated erythroid cells in the heart chambers, blood vessels, and developing liver. [provided by MGI curators] |