Clptq1^NZB/BlNJ
QTL Variant Detail

Summary

• QTL variant: Clptq1^NZB/BlNJ
• Name: cellular lupus traits QTL 1; NZB/BlNJ
• MGI ID: MGI:3835648
• QTL: Clptq1 Location: unknown Genetic Position: Chr4, Syntenic

Variant origin

• Strain of Specimen: NZB/BlNJ

Variant description

• Allele Type: QTL
• Mutation: Undefined
• Mutation details: This allele confers increased thymus size, splenomegaly, increased B1a cell population and increased NKT cell population compared to C57BL/6J. (J:143646)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Notes

Mapping and Phenotype information for this QTL, its variants and associated markers

J:143646

Congenic line analysis was used to confirm the presence of an NZB-derived lupus susceptibility locus on mouse Chromosome 4. Other investigators mapped Sle2 and Lbw2 to 38 cM and 42.6 cM on chromosome 4, respectively. In this study NZB/BlNJ-derived DNA from D4Mit193 (7.5 cM; 32 Mb) to D4Mit33 (79 cM; 149 Mb) was introgressed onto a C57BL/6J genetic background for 9 generations. This line is designated B6.NZBc4L by the authors. A separate congenic line carrying NZB/BlNJ-derived DNA from D4Mit278 (55.2 cM; 114 Mb) to D4Mit33 (79 cM; 149 Mb) backcrossed to the 11th generation was also constructed and designated B6.NZBc4S. Female congenic animals aged 12 months were phenotyped for lupus traits.

Congenic lines B6.NZBc4L and B6.NZBc4S both display increased serum IgG antibody production compared to background strain C57BL/6J.

Increased serum IgA and IgM antibody production was observed for congenic line B6.NZBc4L compared to C57BL/6J. This congenic line also displayed increased thymus size due to increased number of thymocytes, splenomegaly, and increased splenic, peritoneal and hepatic B1a cell expansion similar to that of lupus-susceptible NZB/BlnJ donor strain. NKT cell populations were also increased in the bone marrow and spleen. Authors suggest the proximal portion of mouse Chromosome 4 has significant impact on cellular lupus phenotypes. This locus is tentatively desiginated Clptq1 (cellular lupus traits QTL 1). Potential candidate genes for this locus include Cdkn2c (24.7 cM) and Faf1 (52.7).

References

• Original: J:143646 Loh C, et al., Dissociation of the genetic loci leading to b1a and NKT cell expansions from autoantibody production and renal disease in b6 mice with an introgressed new zealand black chromosome 4 interval. J Immunol. 2007 Feb 1;178(3):1608-17
• All: 1 reference(s)