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
Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Chemically induced (ENU) | Atp11c | ATPase, class VI, type 11C |
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.
Heterozygote: Normal
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 |
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Allele Type | Chemically induced (ENU) |
Allele Synonym(s) | spelling |
Gene Symbol and Name | Atp11c, ATPase, class VI, type 11C |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | X |
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.
Facility Barrier Level Descriptions
The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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