Primary Identifier | MGI:99959 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 21810 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables extracellular matrix binding activity. Acts upstream of or within cell adhesion and extracellular matrix organization. Located in extracellular matrix and extracellular space. Is expressed in several structures, including central nervous system; genitourinary system; heart and pericardium; sensory organ; and skeletal system. Used to study corneal dystrophy. Human ortholog(s) of this gene implicated in corneal dystrophy (multiple). Orthologous to human TGFBI (transforming growth factor beta induced). PHENOTYPE: Homozygotes for a null allele show delayed growth and are prone to spontaneous and induced tumors. Homozygotes for a second null allele are prone to STZ-induced diabetes and show impaired islet function under stress. Homozygotes for a third null allele show a transient decrease in retinal apoptosis. [provided by MGI curators] |