This faculty strain has been discontinued but is available as Stock No. 021568.
The Yaa bearing BXSB/MpJ congenic males homozygous for the Il21rtm1.1Hm null allele do not develop the spontaneous lupus-like autoimmune syndrome that normally develops in BXSB/MpJ males. This strain is valuable for the assessment of the role of IL21 signaling in this autoimmune disease and has been used to delineate the cell types and interactions essential for the development of this autoimmune disorder.
Read More +Genetic Background | Generation |
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000740 BXSB/MpJ |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Yaa | accelerated autoimmunity and lymphoproliferation transposition |
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Il21r | interleukin 21 receptor |
Due to the Yaa translocation on the Y Chromosome, BXSB/MpJ males (Stock No. 000740) develop a spontaneous lupus-like autoimmune syndrome. The first deaths occur at approximately 13 weeks of age with 50% lethality by approximately 30 weeks and 76% lethality by approximately 40 weeks. BXSB/MpJ females develop a greatly attenuated form of autoimmune disease because they lack Yaa. Bubier et al. (2009) determined that interleukin 21 signaling to B cells is essential for this autoimmune response and that BXSB/MpJ males homozygous for the Il21rtm1.1Hm null allele do not develop the hypergammaglobulinemia, autoantibody production, or other autoimmune disease phentoypes that occur in BXSB/MpJ males and in BXSB/MpJ males heterozygous for the Il21rtm1.1Hm null allele. Rather these homozygotes are viable and fertile with a lifespan usually exceeding 40 weeks of age. This strain is valuable for the assessment of the role of IL21 signaling in this autoimmune disease and has been used to delineate the cell types and interactions essential for the development of this autoimmune disorder (McPhee et al., 2013).
The Il21rtm1Wjl null allele was generated in a 129-derived ES cell and bred at least once to C57BL/6. This allele was subsequently backcrossed for 6 generations onto BALB/c before being bred to C57BL/6J for importation into The Jackson Laboratory by Dr. Derry Roopenian. This allele was then backcrossed onto BXSB/MpJ (Stock No. 000740) for 11 generations, retaining the Yaa-bearing Y Chromosome, and then sibling intercrossed to homozygosity for Il21rtm1Wjl.
Allele Name | accelerated autoimmunity and lymphoproliferation |
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Allele Type | Spontaneous |
Allele Synonym(s) | Is(XOfd1-Mid1;Y)1Mp; Tp(X;Y)1Ekw |
Gene Symbol and Name | Yaa, accelerated autoimmunity and lymphoproliferation transposition |
Gene Synonym(s) | |
Strain of Origin | SB/Le |
Chromosome | Y |
Molecular Note | An approximately 4 MB region of the X chromosome that includes at least 13 known genes (spanning from Ofd1 to Mid1) was translocated to the Y chromosome adjacent to the pseudoautosomal region. Increased RNA expression of Msl3, Tlr7, Tmsb4x and Rab9 was detected in follicular B cells. |
Allele Name | targeted mutation 1, Warren J Leonard |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | IL-21R- |
Gene Symbol and Name | Il21r, interleukin 21 receptor |
Gene Synonym(s) | |
Strain of Origin | 129 |
Chromosome | 7 |
Molecular Note | The endogenous locus was disrupted by the insertion of a neomycin selection cassette. Sequence encoding the majority of the signal peptide through the transmembrane domain was replaced by neo, resulting in a frameshift mutation affecting sequence encoding the cytoplasmic domain. Transcript was undetected by RT-PCR analysis of thymocytes obtained from homozygous mutant mice. |
To maintain the live colony, homozygous mice may be bred together. Homozygous animals of both sexes do not develop the spontaneous autoimmune phenotype observed for BXSB/MpJ inbred mice (Stock No. 000740). Heterozygotes will develop the sex-specific autoimmune phenotype of BXSB/MpJ. The expected coat color is white-bellied agouti.
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