About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2651508
Allelic
Composition
Gba1tm1Rlp/Gba1tm1Rlp
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gba1tm1Rlp mutation (3 available); any Gba1 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Inflammatory reaction in the liver of Gba1tm1Rlp/Gba1tm1Rlp mice

mortality/aging
• only about half survive past weaning
• 50% of animals survived past weaning when derived from parental mice also heterozygous for a knockout of the Ugcg gene

growth/size/body
• after 50 days of age body weight is 15% less than wild-type controls
• slight increase in liver weight
• slight increase in spleen weight

cardiovascular system
• Kupffer cells are amoeboid in shape rather than having a ramified structure, indicating an activated state

cellular
• apoptotic hepatocytes are seen in inflammatory lesions

respiratory system
• lungs show aggregations of inflammatory cells consisting of neutrophils, lymphocytes, and macrophages

hematopoietic system
• slight increase in spleen weight
• red blood cell counts are 88.8% of control values
• hematocrit levels are 88.7% of control values
• hemoglobin levels are 91.8% of control values
• white blood cell counts are 62% of controls
• however, platelet counts are normal
• 7 month old mice have abnormal swollen, multinucleated macrophages with lipofuscin granules and tubular structures in the liver
• however, no Gaucher-like cells of characteristic wrinkled tissue paper appearance are seen in the liver, spleen, bone marrow, lymph nodes, lung, or brain
• Kupffer cells are amoeboid in shape rather than having a ramified structure, indicating an activated state

homeostasis/metabolism
• total serum cholesterol level is lower
• liver enzyme alanine aminotransferase is 141% of control levels, indicating liver damage
• liver enzyme aspartate aminotransferase is 160% of control levels, indicating liver damage
• acid beta-glucosidase activity in several organs is 15-20% of normal activity
• chitotriosidase levels are modestly elevated in the serum
• however, acid phosphatase and ACE levels are not elevated
• abnormal glycosylceramide accumulation in the liver, spleen, or brain is not seen

integument
• infiltration of inflammatory cells in the upper dermis
• stratum corneum is thickened

immune system
• slight increase in spleen weight
• white blood cell counts are 62% of controls
• however, platelet counts are normal
• 7 month old mice have abnormal swollen, multinucleated macrophages with lipofuscin granules and tubular structures in the liver
• however, no Gaucher-like cells of characteristic wrinkled tissue paper appearance are seen in the liver, spleen, bone marrow, lymph nodes, lung, or brain
• Kupffer cells are amoeboid in shape rather than having a ramified structure, indicating an activated state
• follicular hyperplasia and distended parafollicular areas
• inflammation is seen in the spleen, with excessive neutrophil infiltration in the red pulp
• multi-organ system inflammation
• mice exhibit lymphadenitis, with cervical, axillary, inguinal, and mesenteric lymph nodes affected
• large numbers of plasma cells are seen in the lymph nodes, indicating plasmacytosis
• inflammatory lesions in the liver are seen as early as 1 month of age, are scattered throughout the liver, and contain macrophages, lymphocytes, and neutrophils
• lungs show aggregations of inflammatory cells consisting of neutrophils, lymphocytes, and macrophages
• infiltration of inflammatory cells in the upper dermis

liver/biliary system
• Kupffer cells are amoeboid in shape rather than having a ramified structure, indicating an activated state
• apoptotic hepatocytes are seen in inflammatory lesions
• slight increase in liver weight
• inflammatory lesions in the liver are seen as early as 1 month of age, are scattered throughout the liver, and contain macrophages, lymphocytes, and neutrophils

pigmentation
• lipofuscin granules are seen in the cytoplasm of macrophages

skeleton
N
• no histological abnormalities of the bones are seen

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Gaucher's disease DOID:1926 J:76409


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory