Phenotypes Associated with This Genotype

Genotype
MGI:5642052

• Allelic Composition: Tg(Ly6a-GCSAM)102AIsg/0
• Genetic Background: involves: C57BL/6J * CBA

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

mortality/aging

premature death ( J:221238 )

• all mice become ill, showing decreased spontaneous movements, increased respiratory rates, piloerection and shivering, and die between 12 and 22 months

behavior/neurological

abnormal pilomotor reflex ( J:221238 )

• ill mice show piloerection

decreased locomotor activity ( J:221238 )

• ill mice show decreased spontaneous movements

hematopoietic system

increased B cell proliferation ( J:221238 )

• B-cells show increased proliferation to anti-IgM antibody, although B-cell proliferation is similar to controls at saturating anti-IgM antibody concentrations, indicating that B-lymphocytes show enhanced sensitivity to surface Ig stimulation

decreased B-1 B cell number ( J:221238 )

• older mice show a decrease in B-1 cell number and percentage in the spleen

• however, no difference in the number and percentage of B-1 and B-1a cells in the bone marrow and peritoneum

increased B-1 B cell number ( J:221238 )

• older mice show an increase in B-1 cell number in the lymph nodes

abnormal spleen morphology ( J:221238 )

• splenic sinusoids are dilated and distorted by large quantities of proteinaceous deposits, which are also present surrounding small and medium-caliber splenic blood vessels

enlarged spleen ( J:221238 )

• massive splenomegaly

increased spleen white pulp amount ( J:221238 )

• a large proportion of the expanded white pulp represents B cells and slightly smaller proportion of T cells

• white pulp expansions represent lymphoid hyperplasia, without germinal center formation

increased IgG level ( J:221238 )

• non-immunized mice produce antibodies of all isotypes and IgG titers tend to be higher, with a statistical difference for IgG1

homeostasis/metabolism

amyloidosis ( J:221238 )

• proteinaceous deposits are found adjacent to expanded white-pulp areas and in multiple organs, including kidney, liver, lung and small intestine, that are consistent with amyloid deposition

• intestine shows massive amyloid deposition

• massive amyloid deposition is seen in all renal glomeruli, as well as the interstitium

• amyloid deposition is seen surrounding small and medium caliber blood vessels in the kidneys, lung, and liver, but not the heart

• the most abundant protein in the amyloid deposits is serum amyloid-associated protein-2, consistent with amyloid A amyloidosis

immune system

increased B cell proliferation ( J:221238 )

• B-cells show increased proliferation to anti-IgM antibody, although B-cell proliferation is similar to controls at saturating anti-IgM antibody concentrations, indicating that B-lymphocytes show enhanced sensitivity to surface Ig stimulation

decreased B-1 B cell number ( J:221238 )

• older mice show a decrease in B-1 cell number and percentage in the spleen

• however, no difference in the number and percentage of B-1 and B-1a cells in the bone marrow and peritoneum

increased B-1 B cell number ( J:221238 )

• older mice show an increase in B-1 cell number in the lymph nodes

abnormal spleen morphology ( J:221238 )

• splenic sinusoids are dilated and distorted by large quantities of proteinaceous deposits, which are also present surrounding small and medium-caliber splenic blood vessels

enlarged spleen ( J:221238 )

• massive splenomegaly

increased spleen white pulp amount ( J:221238 )

• a large proportion of the expanded white pulp represents B cells and slightly smaller proportion of T cells

• white pulp expansions represent lymphoid hyperplasia, without germinal center formation

increased IgG level ( J:221238 )

• non-immunized mice produce antibodies of all isotypes and IgG titers tend to be higher, with a statistical difference for IgG1

enlarged Peyer's patches ( J:221238 )

• starting at 12 months of age, mice show increased-sized Peyer's patches

lymphoid hyperplasia ( J:221238 )

• polyclonal follicular B-cell lymphoid hyperplasia

increased inflammatory response ( J:221238 )

• kidney, liver, and lung show modest mixed lymphoid infiltrates

respiratory system

increased pulmonary respiratory rate ( J:221238 )

• in ill mice

cellular

increased B cell proliferation ( J:221238 )

• B-cells show increased proliferation to anti-IgM antibody, although B-cell proliferation is similar to controls at saturating anti-IgM antibody concentrations, indicating that B-lymphocytes show enhanced sensitivity to surface Ig stimulation

growth/size/body

enlarged spleen ( J:221238 )

• massive splenomegaly

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyloidosis		DOID:9120		J:221238