Phenotypes Associated with This Genotype

Genotype
MGI:5141084

• Allelic Composition: Mtss1^{Gt(CSC156)Byg}/Mtss1^{Gt(CSC156)Byg}
• Genetic Background: B6.129P2-Mtss1^{Gt(CSC156)Byg}

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

Mtss1^{Gt(CSC156)Byg}/Mtss1^{Gt(CSC156)Byg} cells display a distinct morphology and altered actin cytoskeleton reorganization

mortality/aging

premature death ( J:186118 )

• most mutants die between 14 and 24 months of age

neoplasm

increased B cell derived lymphoma incidence ( J:186118 )

• about 70% of mutants develop enlarged lymph notes or spleens infiltrated by abnormal lymphoid cells with vesicular nuclei, abundant cytoplasm and small nucleoli indicative of diffuse large B cell lymphoma; tumor cells are derived from CD5+ B-cells

hematopoietic system

enlarged spleen ( J:186118 )

• 81% of mutants have enlarged spleens

abnormal B cell differentiation ( J:186118 )

• marker analysis of early B-cell development indicates a 35% increase in the percentage of pre-B2 cells, a 22% and 73% reduction in the population of B cells expressing s-IgM in the bone marrow and spleen, respectively, and a reduction in the percentage of B cells with s-IgD, indicating aberrant B cell differentiation

decreased immature B cell number ( J:186118 )

• bone marrow shows a decrease in immature B cells

abnormal B cell number ( J:186118 )

• 50% decrease in the percentage of CD19+ B cells in the spleen

• 20% increase in the percentage of B cells in the bone marrow and an even greater increase in the peripheral blood

increased pre-B cell number ( J:186118 )

• bone marrow shows a 35% increase in the percentage of pre-B2 cells

increased leukocyte cell number ( J:186118 )

• white blood cell count is higher than in wild-type mice

abnormal B cell physiology ( J:186118 )

• B cells do not undergo chemotaxis or morphological changes in response to the chemokine CXCL13

immune system

enlarged spleen ( J:186118 )

• 81% of mutants have enlarged spleens

abnormal B cell differentiation ( J:186118 )

• marker analysis of early B-cell development indicates a 35% increase in the percentage of pre-B2 cells, a 22% and 73% reduction in the population of B cells expressing s-IgM in the bone marrow and spleen, respectively, and a reduction in the percentage of B cells with s-IgD, indicating aberrant B cell differentiation

decreased immature B cell number ( J:186118 )

• bone marrow shows a decrease in immature B cells

abnormal B cell number ( J:186118 )

• 50% decrease in the percentage of CD19+ B cells in the spleen

• 20% increase in the percentage of B cells in the bone marrow and an even greater increase in the peripheral blood

increased pre-B cell number ( J:186118 )

• bone marrow shows a 35% increase in the percentage of pre-B2 cells

increased leukocyte cell number ( J:186118 )

• white blood cell count is higher than in wild-type mice

abnormal B cell physiology ( J:186118 )

• B cells do not undergo chemotaxis or morphological changes in response to the chemokine CXCL13

increased inflammatory response ( J:186118 )

• some mutants exhibit infiltrated leukocytes in the liver and the kidney, which contain a mixture of small T and B cells

liver/biliary system

enlarged liver ( J:186118 )

• 56% of aged mutants exhibit hepatomegaly, with rough liver surfaces

cellular

abnormal cell morphology ( J:174444 )

• mouse embryonic fibroblasts exhibit smooth edges with few projections, reduced polarity, and altered actin cytoskeletal architecture compared with wild-type cells

abnormal cell physiology ( J:174444 )

• mouse embryonic fibroblasts (MEFs) exhibit impaired cell spreading during attachment compared with wild-type cells

• upon PDGF treatment, MEFs develop more prominent dorsal ruffles compared with wild-type cells

• MEFs exhibit 50% less internalization of transferrin compared with wild-type cells

• however, cell proliferation is normal

abnormal cell adhesion ( J:174444 )

• mouse embryonic fibroblasts form poor focal adhesions compared with wild-type cells

impaired fibroblast cell migration ( J:174444 )

• in 0.2% serum medium

• however, migration is restored by the addition of PDGF, EGF, or 10% serum

growth/size/body

enlarged liver ( J:186118 )

• 56% of aged mutants exhibit hepatomegaly, with rough liver surfaces

enlarged spleen ( J:186118 )

• 81% of mutants have enlarged spleens

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
non-Hodgkin lymphoma		DOID:0060060	OMIM:605027	J:186118