Mouse Genome Informatics
cn
    Gbatm1Karl/Gbatm1.1Karl
Tg(Mx1-cre)1Cgn/0

involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
homeostasis/metabolism
• 5 months post-transplant of wild-type bone marrow into deficient mice 1.5 months after Gba-depletion results in significantly higher glucosylceramidase activity in bone marrow, spleen and liver of recipients

hematopoietic system
• after 16 months of disease (cre) induction, significantly reduced compared to control
• after 16 months of disease (cre) induction, significantly reduced compared to control
• after 16 months of disease (cre) induction, significantly reduced compared to control
• after disease (cre) induction following birth, 12 month -old Gba-deficient mice have disrupted splenic architecture
• demarcation of red and white pulp is not evident

immune system
• spleen, thymus, liver and lymph nodes of 12 month old cre-induced Gba-null mice show massive infiltration of mainly multinucleated Gaucher cells, and cytoplasm had "wrinkled tissue-paper"-like appearance
• after disease (cre) induction following birth, 12 month -old Gba-deficient mice have disrupted splenic architecture
• demarcation of red and white pulp is not evident
• 5 months after bone marrow transplant, no Gaucher cells are observed
• if Gaucher disease is allowed to progress for 7.5 months before bone marrow transplant, when examined at 13 months of age, recipients have been cleared of all (4/6) or all but a few (2/6) Gaucher cells

liver/biliary system
• after 16 months of disease (cre) induction, liver is slightly enlarged, but less so than spleen
• after 16 months of disease (cre) induction, liver is pale

skeleton
• bone marrow shows massive infiltration by Gaucher cells

Mouse Models of Human Disease
OMIM IDRef(s)
Gaucher Disease, Type I 230800 J:113751