Phenotypes Associated with This Genotype

Genotype
MGI:3582186

• Allelic Composition: Rc3h1^san/Rc3h1^san
• Genetic Background: either: C57BL/6JSfdAnu-Rc3h1^san/Anu or (involves: C57BL/6JSfdAnu * CBA/Ca)

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

immune system

abnormal T cell differentiation ( J:98938 )

• acting within mature T cells to cause formation of excessive numbers of follicular helper T cells and germinal centers

enlarged lymph nodes ( J:98938 )

• develop an enlarged spleen and lymph nodes by 7 weeks

increased anti-nuclear antigen antibody level ( J:98938 )

• females develop antinuclear autoantibodies by 6-7 weeks of age and males by 8-16 weeks

increased anti-double stranded DNA antibody level ( J:98938 )

• high-affinity antibodies against double stranded DNA

liver inflammation ( J:98938 )

• necrotizing hepatitis

glomerulonephritis ( J:98938 )

• focal proliferative glomerulonephritis with deposition of IgG-containing immune complexes

renal/urinary system

glomerulonephritis ( J:98938 )

• focal proliferative glomerulonephritis with deposition of IgG-containing immune complexes

hematopoietic system

abnormal T cell differentiation ( J:98938 )

• acting within mature T cells to cause formation of excessive numbers of follicular helper T cells and germinal centers

anemia ( J:98938 )

thrombocytopenia ( J:98938 )

• autoimmune thrombocytopenia

liver/biliary system

liver inflammation ( J:98938 )

• necrotizing hepatitis

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:98938