Table 1.
Defects in epithelial barrier function resulting from loss of matriptase activity
| Organism | Loss of matriptase function | Phenotype | Barrier defect |
|---|---|---|---|
| Human | |||
| ARIH (OMIM#602400) (23) | Expected partial to complete; all tissues | Skin - ichthyosis, hypotrichosis, dysplastic hair Teeth - enamel notching/pitting, conical primary teeth Eye - Comeal opacity, photophobia |
|
| Mouse | |||
| St14−/−(13,14) | Null, all tissues | Perinatal lethality within 48h after birth Skin - Defects in stratum corneum development, ichthyosis, hair follicle hypoplasia, lack of whiskers Thymus - increased thymocyte apoptosis |
Increased transepidermal fluid loss and diffusion of topically or intradermally injected tracers, loss of TJ localization of Z01 |
| St14−/− in PAR2-deficient background (17) | Null, all tissues | Embryonic lethality Placenta - underdevelopment of labyrinth layer |
Increased transplacental diffusion, decreased expression of claudin 1 |
| Vil-Cre;St14fl/fl (14,29) | Null, epithelium of Gl tract | Growth retardation, diarrhea, shortened lifespan Colon - Edema, loss of crypt architecture, severe inflammation | Increased transepithelial diffusion of intestinal luminal biotin into tissue stroma |
| MMTV-Cre;St14fl/fl (14,17) | Null, epithelium of salivary glands | Loss of saliva production | Increased transepithelial electrical conductance in salivary gland, loss of membrane localization of claudin 3 |
| βAct-CreER™;St14fl/fl (14) | Inducible loss of expression, all tissues | Rapid loss of weight and viability Skin - loss of hair, ichthyosis Colon - edema, loss of crypt structure, inflammation |
Skin - decreased expression of TJ proteins claudinl, Z01, and occludin Intestine - increased transepithelial diffusion of intestinal luminal dextran into bloodstream |
| St14hypo/hypo (24,27) | Reduced expression, all tissues | Skin - ichthyosis, epidermal acanthosis, impaired desquamation, delayed hair growth, sparse fur | Skin - increased transepidermal fluid loss Intestine - decreased transepithelial electrical resistance, increased diffusion intestinal luminal dextran into bloodstream, increased expression of claudin 2 |
| Horse | |||
| ST14:c.388G>T (25) | Null, all tissues | Skin - dry and scaly, complete alopecia Thymus - lack of cortico-medullary organization, absence of Hassal corpuscles Spleen, lymph nodes - abnormal or absent T cell zones |
|
| Fruit fly | |||
| NpP6/NpC2 (26) | Null, all tissues | Lack of airway fluid clearance, embryonic lethality | Trachea - increased diffusion of dextran the lumen |