| 330064 |
Q5U4D8 |
SC5A6_MOUSE |
Sodium-dependent multivitamin transporter (Na(+)-dependent multivitamin transporter) (Solute carrier family 5 member 6) |
DISRUPTION PHENOTYPE |
Intestine-specific knockout leads to premature lethality between the age of 6 and 10 weeks in around two-thirds of mice due to acute peritonitis (PubMed:23104561). Growth retardation, decreased bone density of the femoral and humoral head, decreased bone length of the pelvic, tibial, and femoral bones, lethargic behavior, hunched back posture, and decreased biotin status are observed (PubMed:23104561). Abnormalities in the small bowel with shortened villi and dysplasia, chronic active inflammation with focal cryptitis/crypt abscesses in the cecum, an increase in the number of neutrophils in the mucosa and low-grade adenomatous changes and extensive submucosal edema (PubMed:23104561). Impaired carrier-mediated biotin and pantothenate uptake in the jejunum (PubMed:23104561). Reduced biotin levels in the liver (PubMed:23104561). Increase in gut permeability and changes in the level of expression of tight junction proteins in the cecum and colon (PubMed:27492331). {ECO:0000269|PubMed:23104561, ECO:0000269|PubMed:27492331}. |