Primary Identifier | MGI:1338031 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 20733 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable serine-type endopeptidase inhibitor activity. Acts upstream of or within basement membrane organization; chordate embryonic development; and establishment or maintenance of cell polarity. Predicted to be located in cytoplasm. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Used to study congenital secretory sodium diarrhea 3. Human ortholog(s) of this gene implicated in congenital secretory sodium diarrhea 3. Orthologous to human SPINT2 (serine peptidase inhibitor, Kunitz type 2). PHENOTYPE: Homozygous embryos carrying an insertional mutation fail to progress to the headfold stage and die at gastrulation displaying a severe clefting of the embryonic ectoderm at E7.5. [provided by MGI curators] |