| 14466 |
P17439 |
GBA1_MOUSE |
Lysosomal acid glucosylceramidase (Lysosomal acid GCase) (EC 3.2.1.45) (Acid beta-glucosidase) (Beta-glucocerebrosidase) (Cholesterol glucosyltransferase) (SGTase) (EC 2.4.1.-) (Cholesteryl-beta-glucosidase) (EC 3.2.1.-) (D-glucosyl-N-acylsphingosine gluc |
DISRUPTION PHENOTYPE |
Homozygous knockout mice die within 24 hours of birth (PubMed:1594045). They are under weight, respire abnormally and show rapidly progressing cyanosis (PubMed:1594045). Feeding and movement are also decreased in these mice (PubMed:1594045). Macrophages accumulating glucosylceramides in tubular lysosomal deposits are found in liver (in Kupffer cells), bone marrow, spleen and brain (PubMed:1594045). Hematopoietic stem cells conditional knockout of GBA1, leads to widespread and organ-specific dysfunction of immune cells. Thymus shows the earliest alteration with features of impaired T-cell maturation, aberrant B-cell recruitment, enhanced antigen presentation, and impaired egress of mature thymocytes (PubMed:22665763). {ECO:0000269|PubMed:1594045, ECO:0000269|PubMed:22665763}. |