These ENU-induced Atp11c mutant mice exhibit reduced numbers of CD19+ B cells and hyperbilirubinemia with elevated levels of cholic acid in the serum. This mutant mouse strain may be useful in studies of B cell lymphopoiesis and cholestasis.
Bruce Beutler, University of Texas Southwestern Medical
Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. However, more than half of all homozygous females suffer dystocia after pregnancy. Mice exhibit reduced numbers of CD19+ B cells. The reduction in B cells is first observed at the pre-pro B to pro-B transition in the bone marrow. Marginal zone B cells persist in normal numbers. The donating investigator reports that mice develop hyperbilirubinemia with elevated levels of cholic acid in the serum. This mutant mouse strain may be useful in studies of B cell lymphopoiesis and cholestasis.
For additional information, see The Scripps Research Institute Mutagenix website.
This missense point mutation was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males. Mutagenized males were outcrossed to C57BL/6J females. The mutation results in a T to A transversion at position 1214 in exon 12 of 30 exons. The mutation alters the corresponding amino acid from isoleucine to lysine at codon 355. Upon arrival, mice were bred to C57BL/6J for at least 1 generation to establish the colony.
|Allele Name||mutation 2, Bruce Beutler|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Atp11c, ATPase, class VI, type 11C|
|Strain of Origin||C57BL/6J|
|Molecular Note||The mutation, in the 12th of the gene's 30 exons, corresponds to a T to A transversion at nucleotide position 1214 of the transcript that is predicted to replace isoleucine with lysine at amino acid position 355 of the protein (I355K).|
The donating investigator maintains these mice as heterozygotes. Homozygous females are fertile, but have a high incidence of dystocia.
When using the spelling mouse strain in a publication, please cite the originating article(s) and include MMRRC stock #34371 in your Materials and Methods section.