Phenotypes Associated with This Genotype

Genotype
MGI:4836356

• Allelic Composition: Urah^plt2/Urah^plt2
• Genetic Background: C57BL/6-Urah^plt2

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

increased liver weight ( J:164423 )

cellular

increased T cell proliferation ( J:267227 )

• B16.OVA melanoma bearing mice show a greater proportion of proliferating antigen-specific OT-I T cells in both draining and non-draining lymph nodes, before and after Poly I:C treatment compared to wild-type mice indicating increased proliferation of tumor-specific CD8+ T cells

hematopoietic system

increased T cell proliferation ( J:267227 )

• B16.OVA melanoma bearing mice show a greater proportion of proliferating antigen-specific OT-I T cells in both draining and non-draining lymph nodes, before and after Poly I:C treatment compared to wild-type mice indicating increased proliferation of tumor-specific CD8+ T cells

increased megakaryocyte cell number ( J:164423 )

• in the bone marrow and spleen

abnormal megakaryocyte progenitor cell morphology ( J:164423 )

• an increase in the number of megakaryocytes progenitors in the bone marrow and spleen

thrombocytosis ( J:164423 )

• elevated platelet number

decreased CD8-positive, alpha-beta T cell number ( J:267227 )

• B16.OVA melanoma (expressing a truncated OVA protein) bearing mice that have been adoptively transferred with OVA-specific OT-I T cells show fewer tumor-specific CD8+ T cells in draining lymph node than wild-type mice

abnormal NK cell morphology ( J:267227 )

• B16 melanoma challenged mice exhibit a smaller increase in NK cell numbers in the tumor-draining lymph node following Poly I:C treatment compared to wild-type mice, but a greater increase in NK cells in tumors

homeostasis/metabolism

increased blood uric acid level ( J:267227 )

• mice exhibit elevated serum uric acid levels

decreased physiological sensitivity to xenobiotic ( J:267227 )

• mice show altered efficacy of the anti-tumor immunotherapy Poly I:C; mice challenged with B16 melanoma and treated with Poly I:C are unable to delay tumor growth as is seen in controls

• however, conventional and monocyte-derived dendritic cells in the tumor-draining lymph nodes and CD8+ T cells in the tumor-draining lymph node and tumor are similarly increased as in controls after Poly I:C immunotherapy and dendritic responses are similar

liver/biliary system

increased liver weight ( J:164423 )

increased hepatocellular carcinoma incidence ( J:164423 )

• 54% of mice aged to 2 years had hepatic tumors

abnormal liver physiology ( J:164423 )

• increased THPO secretion

neoplasm

increased hepatocellular carcinoma incidence ( J:164423 )

• 54% of mice aged to 2 years had hepatic tumors

immune system

increased T cell proliferation ( J:267227 )

• B16.OVA melanoma bearing mice show a greater proportion of proliferating antigen-specific OT-I T cells in both draining and non-draining lymph nodes, before and after Poly I:C treatment compared to wild-type mice indicating increased proliferation of tumor-specific CD8+ T cells

decreased CD8-positive, alpha-beta T cell number ( J:267227 )

• B16.OVA melanoma (expressing a truncated OVA protein) bearing mice that have been adoptively transferred with OVA-specific OT-I T cells show fewer tumor-specific CD8+ T cells in draining lymph node than wild-type mice

abnormal NK cell morphology ( J:267227 )

• B16 melanoma challenged mice exhibit a smaller increase in NK cell numbers in the tumor-draining lymph node following Poly I:C treatment compared to wild-type mice, but a greater increase in NK cells in tumors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperuricemia		DOID:1920		J:267227