Phenotypes Associated with This Genotype

Genotype
MGI:3653863

• Allelic Composition: M6pr^tm1Hlk/M6pr^tm1Hlk
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cellular

increased lysosomal enzyme secretion ( J:111016 )

• in embryonic and adult skin fibroblasts intracellular lysosomal emzyme levels are decreased

• embryonic fibroblasts and thymocytes secrete higher levels of phosphorylated ligands of lysosomal enzymes

lysosomal protein accumulation ( J:111016 )

• in embryonic and adult skin fibroblasts dense inclusions are seen in the cytoplasm and large vacuoles often consisting of compact clusters of smaller translucent vesicles are seen

homeostasis/metabolism

abnormal urine homeostasis ( J:111016 )

• about a 5-fold increase in mannose-6-phosphate containing glycoprotein levels

abnormal enzyme/coenzyme activity ( J:111016 )

• about a 2-fold increase in serum beta-galactosidase, beta-glucuronidase, and arylsulfatase activities

skeleton

skeleton phenotype ( J:111016 )

N • no signs of joint stiffness are detected

renal/urinary system

abnormal urine homeostasis ( J:111016 )

• about a 5-fold increase in mannose-6-phosphate containing glycoprotein levels