Phenotypes Associated with This Genotype

Genotype
MGI:3809239

• Allelic Composition: Fas^lpr/Fas^lpr; Igh-J^{tm2(3H9-VDJ*)Mwg}/Igh-J⁺
• Genetic Background: MRL.Cg-Fas^lpr Igh-J^{tm2(3H9-VDJ*)Mwg}

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

immune system

abnormal B cell receptor editing ( J:131138 )

• Anti-dsDNA B cells have their transgenic heavy chains paired with kappa light chains that do not prevent DNA binding

• most anti-dsDNA B cells have also edited the heavy chain transgene suggesting de novo development of anti-DNA binding activity

• there is a decrease in the number of unresponsive B cells that express both lamda and kappa chains compared to transgenic mice on a BALB/c background (7.6% of splenic B cells versus to 19.4% )

abnormal marginal zone B cell morphology ( J:131138 )

• mice have a smaller marginal zone B cell population (3.4% of splenic lymphocytes) compared to MRL/lpr mice without the transgene (10.8%)

increased anti-double stranded DNA antibody level ( J:131138 )

• significant levels of IgM and IgG antibodies that bind dsDNA antibodies are detected in mice 6-8 weeks of age

• levels of these auto antibodies rise with age

• the levels of IgG are higher than in age-matched MRL/lpr mice that do not carry the transgene

hematopoietic system

abnormal B cell receptor editing ( J:131138 )

• Anti-dsDNA B cells have their transgenic heavy chains paired with kappa light chains that do not prevent DNA binding

• most anti-dsDNA B cells have also edited the heavy chain transgene suggesting de novo development of anti-DNA binding activity

• there is a decrease in the number of unresponsive B cells that express both lamda and kappa chains compared to transgenic mice on a BALB/c background (7.6% of splenic B cells versus to 19.4% )

abnormal marginal zone B cell morphology ( J:131138 )

• mice have a smaller marginal zone B cell population (3.4% of splenic lymphocytes) compared to MRL/lpr mice without the transgene (10.8%)

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:131138