C57BL/6J-Atp11c^m2Btlr/Mmjax

Stock number: 014641
Product name: spelling
Research areas: Immunology, Inflammation and Autoimmunity Research, Metabolism Research

Description

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.

Detailed description

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

Development

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

Symbol: Atp11c^m2Btlr
Name: mutation 2, Bruce Beutler
MGI accession ID: MGI:4843275
Generation method: Chemically induced (ENU)
Synonyms: spelling
Marker symbol: Atp11c
Marker name: ATPase, class VI, type 11C
Chromosome: X
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).