| 13039 |
P06797 |
CATL1_MOUSE |
Procathepsin L (EC 3.4.22.15) (Cathepsin L1) (Major excreted protein) (MEP) (p39 cysteine proteinase) [Cleaved into: Cathepsin L; Cathepsin L heavy chain; Cathepsin L light chain] |
DISRUPTION PHENOTYPE |
Enlarged thyroid follicles, reduced extension of the thyroid epithelium and increased levels of Tg/thyroglobulin in the thyroid follicles. Lysosomes are enlarged and CTSB/cathepsin B is mis-localized to the apical membrane of thyroid epithelial cells. Serum levels of thyroid hormone thyroxine (T4) are reduced. The phenotype is more severe in CTSK/cathepsin K and CTSL double knockout mice (PubMed:12782676). Mutants possess reduced levels of Met-enkephalin in brain (PubMed:12869695). Mice show impaired CD4(+) T cell selection (PubMed:12021314). They have reduced numbers of CD4(+) T cells in the thymus and periphery and CD8(+) T cells relatively increased (PubMed:9545226). One-year-old mutant mice show ventricular and atrial enlargement associated with a comparatively small increase in relative heart weight and severely impaired myocardial contraction. They show interstitial fibrosis and pleomorphic nuclei (PubMed:11972068). Cardiomyocytes contain multiple large and apparently fused lysosomes characterized by storage of electron-dense heterogeneous material (PubMed:11972068). Mutants have delayed hair follicle morphogenesis and late onset of the first catagen stage. Their skin show mild epidermal hyperplasia and hyperkeratosis, severe hyperplasia of the sebaceous glands, and structural alterations of hair follicles (PubMed:12163394). {ECO:0000269|PubMed:11972068, ECO:0000269|PubMed:12021314, ECO:0000269|PubMed:12163394, ECO:0000269|PubMed:12782676, ECO:0000269|PubMed:12869695, ECO:0000269|PubMed:9545226}. |