| Primary Identifier | MGI:98754 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 21859 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable metalloendopeptidase inhibitor activity and protease binding activity. Acts upstream of or within cellular response to organic substance. Located in basement membrane. Is expressed in several structures, including alimentary system; central nervous system; eye posterior segment; genitourinary system; and musculoskeletal system. Used to study Sorsby's fundus dystrophy and dilated cardiomyopathy. Human ortholog(s) of this gene implicated in Sorsby's fundus dystrophy; breast carcinoma; and urinary bladder cancer. Orthologous to human TIMP3 (TIMP metallopeptidase inhibitor 3). PHENOTYPE: Targeted null mice die prematurely with lethargy, ruffled hair, and a hunched posture, displaying impaired bronchiole branching, reduced alveologenesis and abnormal mammary gland involution. Knock-ins harboring a Ser156Cys missense mutation provide a mouse model for Sorsby fundus dystrophy. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
