Mouse Genome Informatics
hm1
    Gbatm1Nsb/Gbatm1Nsb
involves: 129S/SvEv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

behavior/neurological
• decreased feeding

growth/size/body
• underweight, evident at birth

hematopoietic system
• macrophages in liver, bone marrow, spleen, and brain show lysosomal lipid accumulation

homeostasis/metabolism

immune system
• macrophages in liver, bone marrow, spleen, and brain show lysosomal lipid accumulation

respiratory system
• respire abnormally from birth

Mouse Models of Human Disease
OMIM IDRef(s)
Gaucher Disease, Type II 230900 J:1100


Mouse Genome Informatics
ht2
    Gbatm2Ggb/Gbatm1Nsb
involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• small accumulations of glucosylceramide at 9 months of age

hematopoietic system
• small numbers of storage cells at 8-9 months of age
• small accumulations of glucosylceramide at 9 months of age

immune system
• small numbers of storage cells at 8-9 months of age
• small accumulations of glucosylceramide at 9 months of age

liver/biliary system
• small accumulations of glucosylceramide at 9 months of age

respiratory system
• small accumulations of glucosylceramide at 9 months of age

Mouse Models of Human Disease
OMIM IDRef(s)
Gaucher Disease, Type I 230800 J:86334
Gaucher Disease, Type III 231000 J:86334


Mouse Genome Informatics
ht3
    Gbatm3Ggb/Gbatm1Nsb
involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• small accumulations of glucosylceramide (2X wild-type values) at 6.5 months of age

hematopoietic system
• small numbers of storage cells at 3-4 months of age
• small accumulations of glucosylceramide (2X wild-type values) at 6.5 months of age

immune system
• small numbers of storage cells at 3-4 months of age
• small accumulations of glucosylceramide (2X wild-type values) at 6.5 months of age

liver/biliary system
• small accumulations of glucosylceramide (2X wild-type values) at 6.5 months of age

respiratory system
• small accumulations of glucosylceramide (2X wild-type values) at 6.5 months of age

Mouse Models of Human Disease
OMIM IDRef(s)
Gaucher Disease, Type I 230800 J:86334
Gaucher Disease, Type III 231000 J:86334


Mouse Genome Informatics
ht4
    Gbatm4Ggb/Gbatm1Nsb
involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• large numbers of storage cells at 3 months of age
• accumulations of glucosylceramide (4X wild-type values) at 6.5 months of age

hematopoietic system
• small numbers of storage cells at 3-4 months of age
• accumulations of glucosylceramide (4X wild-type values) at 6.5 months of age

immune system
• small numbers of storage cells at 3-4 months of age
• accumulations of glucosylceramide (4X wild-type values) at 6.5 months of age

liver/biliary system
• small numbers of storage cells at 3 months of age
• accumulations of glucosylceramide (4X wild-type values) at 6.5 months of age

respiratory system
• large numbers of storage cells at 3 months of age
• accumulations of glucosylceramide (4X wild-type values) at 6.5 months of age

Mouse Models of Human Disease
OMIM IDRef(s)
Gaucher Disease, Type I 230800 J:86334
Gaucher Disease, Type III 231000 J:86334


Mouse Genome Informatics
cx5
    Gba/Mtx1tm1Bst/Gbatm1Nsb
Gba/Mtx1tm1Bst/Mtx1+

involves: 129S/SvEv * 129S4/SvJae
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• animals die within 24 hours of birth

homeostasis/metabolism
• mutants have about 5% of control glucocerebrosidase activity