Analysis Tools|
Allele Symbol Allele Name Allele ID |
Gba1tm1Rlp targeted mutation 1, Richard L Proia MGI:2180202 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Phenotypes of Gba1tm1Rlp/Gba1tm1Rlp and Gba1tm2Rlp/Gba1tm2Rlp mice after birth
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• animals died at 24-48 hours after birth
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Inflammatory reaction in the liver of Gba1tm1Rlp/Gba1tm1Rlp mice
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• only about half survive past weaning
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• 50% of animals survived past weaning when derived from parental mice also heterozygous for a knockout of the Ugcg gene
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• after 50 days of age body weight is 15% less than wild-type controls
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• slight increase in liver weight
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• slight increase in spleen weight
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• Kupffer cells are amoeboid in shape rather than having a ramified structure, indicating an activated state
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• apoptotic hepatocytes are seen in inflammatory lesions
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• lungs show aggregations of inflammatory cells consisting of neutrophils, lymphocytes, and macrophages
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• slight increase in spleen weight
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• red blood cell counts are 88.8% of control values
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• hematocrit levels are 88.7% of control values
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• hemoglobin levels are 91.8% of control values
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• white blood cell counts are 62% of controls
• however, platelet counts are normal
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• 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
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• Kupffer cells are amoeboid in shape rather than having a ramified structure, indicating an activated state
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• total serum cholesterol level is lower
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• liver enzyme alanine aminotransferase is 141% of control levels, indicating liver damage
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• liver enzyme aspartate aminotransferase is 160% of control levels, indicating liver damage
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• 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
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• infiltration of inflammatory cells in the upper dermis
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• stratum corneum is thickened
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• slight increase in spleen weight
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• white blood cell counts are 62% of controls
• however, platelet counts are normal
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• 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
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• Kupffer cells are amoeboid in shape rather than having a ramified structure, indicating an activated state
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• follicular hyperplasia and distended parafollicular areas
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• inflammation is seen in the spleen, with excessive neutrophil infiltration in the red pulp
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• multi-organ system inflammation
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• 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
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• 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
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• lungs show aggregations of inflammatory cells consisting of neutrophils, lymphocytes, and macrophages
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• infiltration of inflammatory cells in the upper dermis
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• Kupffer cells are amoeboid in shape rather than having a ramified structure, indicating an activated state
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• apoptotic hepatocytes are seen in inflammatory lesions
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• slight increase in liver weight
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• 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
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• lipofuscin granules are seen in the cytoplasm of macrophages
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| N |
• no histological abnormalities of the bones are seen
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Gaucher's disease | DOID:1926 | J:76409 | ||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 11/12/2024 MGI 6.24 |
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