Generation of a conditional knockout of murine glucocerebrosidase: Utility for the study of Gaucher disease

Gaucher disease is a disorder of sphingolipid metabolism resulting from an inherited deficiency of the lysosomal hydrolase glucocerebrosidase. Affected individuals present with a spectrum of clinical symptoms ranging from hepatosplenomegaly, haematological abnormalities, and bone pain in type 1 dise...

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Veröffentlicht in:	Molecular genetics and metabolism 2007-02, Vol.90 (2), p.148-156
Hauptverfasser:	Sinclair, Graham B., Jevon, Gareth, Colobong, Karen E., Randall, Derrick R., Choy, Francis Y.M., Clarke, Lorne A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Conditional knockout Cre-lox Disease Models, Animal Flp-FRT Gaucher cell Gaucher disease Gaucher Disease - etiology Gaucher Disease - pathology GBA Glucocerebrosidase Glucosylceramidase - genetics Glucosylceramidase - metabolism Glucosylceramides - metabolism Hematopoietic cell Hematopoietic System - pathology Humans Integrases - genetics Liver - enzymology Liver - pathology Mice Mice, Knockout Mice, Mutant Strains Molecular Sequence Data Mouse model Recombinases - genetics Spleen - abnormalities Spleen - enzymology Spleen - pathology Splenomegaly Tie2-Cre
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