Phenotypes Associated with This Genotype

Genotype
MGI:4939894

• Allelic Composition: Rassf5^tm1Kina/Rassf5^tm1Kina
• Genetic Background: B6.Cg-Rassf5^tm1Kina

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

immune system

enlarged spleen ( J:168749 )

increased B cell number ( J:168749 )

• total B and T cells are increased by about 50%

increased plasma cell number ( J:168749 )

• CD138+B220+ plasma cells are increased in 10 month old female mutants

increased T cell number ( J:168749 )

• total B and T cells are increased by about 50%

increased memory T cell number ( J:168749 )

• CD44+CD62L- effector-memory T cells are increased in 10 month old female mutants

abnormal lymphocyte physiology ( J:168749 )

• lymphocyte hyperproliferation, with lymphocytes exhibiting enhanced S phase entry after stimulation

increased B cell proliferation ( J:168749 )

• primary B cells exhibit accelearated S phase entry after stimulation

increased T cell proliferation ( J:168749 )

• primary T cells exhibit accelerated S phase entry after stimulation

increased IgG level ( J:168749 )

• aged mice exhibit a 2-fold increase in serum IgG compared to wild-type mice

• deposits of IgG and C3 in the kidney

enlarged lymph nodes ( J:168749 )

increased anti-double stranded DNA antibody level ( J:168749 )

• aged mice exhibit high titers of antibodies to dsDNA

glomerulonephritis ( J:168749 )

• females exhibit evidence of glomerulonephritis by 10 months of age while males show similar phenotypes at a later age of 15-18 months

neoplasm

increased hepatocellular carcinoma incidence ( J:168749 )

• mutants develop hepatocellular carcinomas after 1.5 years of age

increased B cell derived lymphoma incidence ( J:168749 )

• mutants develop B220+CD19+ diffuse large B cell lymphomas

• about 30% of mutants develop B cell lymphomas in peripheral lymph nodes and spleen at 1 year of age

• lymphomas are IgM+, IgD+, CD21+, CD23+, and mature B cell type; progressed lymphomas often lose these markers

• lymphomas are monoclonal or oligoclonal in origin

• B cell lymphomas are not related to severity of autoimmune phenotypes

increased lung adenocarcinoma incidence ( J:168749 )

• mutants develop lung adenocarcinomas after 1.5 years of age

hematopoietic system

enlarged spleen ( J:168749 )

increased B cell number ( J:168749 )

• total B and T cells are increased by about 50%

increased plasma cell number ( J:168749 )

• CD138+B220+ plasma cells are increased in 10 month old female mutants

increased T cell number ( J:168749 )

• total B and T cells are increased by about 50%

increased memory T cell number ( J:168749 )

• CD44+CD62L- effector-memory T cells are increased in 10 month old female mutants

abnormal lymphocyte physiology ( J:168749 )

• lymphocyte hyperproliferation, with lymphocytes exhibiting enhanced S phase entry after stimulation

increased B cell proliferation ( J:168749 )

• primary B cells exhibit accelearated S phase entry after stimulation

increased T cell proliferation ( J:168749 )

• primary T cells exhibit accelerated S phase entry after stimulation

increased IgG level ( J:168749 )

• aged mice exhibit a 2-fold increase in serum IgG compared to wild-type mice

• deposits of IgG and C3 in the kidney

homeostasis/metabolism

increased urine protein level ( J:168749 )

renal/urinary system

increased urine protein level ( J:168749 )

glomerulonephritis ( J:168749 )

• females exhibit evidence of glomerulonephritis by 10 months of age while males show similar phenotypes at a later age of 15-18 months

liver/biliary system

increased hepatocellular carcinoma incidence ( J:168749 )

• mutants develop hepatocellular carcinomas after 1.5 years of age

cellular

increased B cell proliferation ( J:168749 )

• primary B cells exhibit accelearated S phase entry after stimulation

increased T cell proliferation ( J:168749 )

• primary T cells exhibit accelerated S phase entry after stimulation

growth/size/body

enlarged spleen ( J:168749 )

respiratory system

increased lung adenocarcinoma incidence ( J:168749 )

• mutants develop lung adenocarcinomas after 1.5 years of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
systemic lupus erythematosus		DOID:9074	OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420	J:168749