Bcmd2^CAST/EiJ
QTL Variant Detail

Summary

• QTL variant: Bcmd2^CAST/EiJ
• Name: B cell maturation defect 2; CAST/EiJ
• MGI ID: MGI:2389406
• Synonyms: Bcmd-2^c
• QTL: Bcmd2 Location: Chr4:133154678-150789451 bp Genetic Position: Chr4, Syntenic

Variant origin

• Strain of Specimen: CAST/EiJ

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers increased mastocytosis compared to A/WySnJ. (J:75340)

Notes

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

J:75340

A second locus affecting B-lymphocyte deficiency and mastocytosis, Bcmd2, was mapped to an interval on mouse Chromosome 4 between D4Mit204 and D4Mit190 using an (A/WySnJ x CAST/Ei)F2 cross and controlling for Bcmd1 on chromosome 15. Parental strain A/WySnJ exhbits defective B-cell and mast cell homeostasis whereas parental strain CAST/Ei does not. Bcmd2 reached an LRS significance level of >10.4 between D4Mit204 and D4Mit190. Bcmd2 is a minor modifying locus controlling approximately 15% of the phenotypic difference. The Bcmd1 locus was fine-mapped to a 1.8 cM interval between D15Mit259 and D15Mit118 using extreme progeny from the (A/WySnJ x CAST/Ei)F2 cross and 630 animals from an (A/WySnJ x CAST/Ei)F1 x A/WySnJ backcross. A potential candidate gene for Bcmd1 is Blk. Bcmd1 and Bcmd2 were further verified in congenic strains created by introgressing either the Bcmd1 or Bcmd2 locus from CAST/Ei donor DNA onto the genetic background of A/WySnJ. Interestingly, the AW.CAST-Bcmd2 congenic exhibits mastocytosis but not B-lymphocyte deficiency suggesting mastocytosis is controlled by a different gene or genes.

References

• Original: J:75340 Clise-Dwyer K, et al., Genetic studies of B-lymphocyte deficiency and mastocytosis in strain A/WySnJ mice. Immunogenetics. 2001 Dec;53(9):729-35
• All: 2 reference(s)