These Mia2cpto ENU-induced mutant mice possess a missense mutation in exon 3 of the melanoma inhibitory activity 2 (Mia2) gene. These mutant mice may be useful in studying the regulation and secretion of circulating cholesterol and triglycerides.
Nicholas Gekakis, San Diego State University
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Chemically induced (ENU) | Mia2 | melanoma inhibitory activity 2 |
These Mia2cpto ENU-induced mutant mice possess a missense mutation in exon 3 of the melanoma inhibitory activity 2 (Mia2) gene. Homozygotes are viable and fertile. Mia2 encodes many transcripts due to alternative splice and promoter use. Transcripts including exon 3, which contains the cpto mutation, are specifically expressed in liver and small intestine. Localized to endoplasmic reticulum exit sites, MIA2 plays a role in the regulation of sorting in the secretory pathway. Variations in Mia2 transcript levels have been implicated in several types of liver disease. These MIA2 mutants exhibit lower circulating very-low-density lipoprotein VLDL, low-density lipoprotein (LDL), high-density lipoprotein (HDL), and triglycerides. They have no changes in glucose levels, insulin levels, body weight, fat mass or lean mass as compared to controls. These mutant mice may be useful in studying the regulation and secretion of circulating cholesterol and triglycerides.
Following multidose N-ethyl-N-nitrosourea (ENU) treatments to induce mutations in founder C57BL/6J mice, a forward genetic screen was utilized to identify mice exhibiting a recessive mutation causing changes in plasma cholesterol. A mutation was mapped by SNP genotyping and a critical interval was defined. Candidate genes within this interval were sequenced to find the in the melanoma inhibitory activity 2 (Mia2) gene. Sequencing of this gene identified a T to C transition in exon 3 of Mia2 resulting in a phenylalanine to serine missense mutation (F91S). These Mia2cpto mice were bred to C57BL/6J mice to establish a colony. Upon arrival at The Jackson Laboratory, mice were bred to C57BL/6J (Stock No. 000664) for at least one generation.
Allele Name | couch potato |
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Allele Type | Chemically induced (ENU) |
Allele Synonym(s) | Mia2F91S |
Gene Symbol and Name | Mia2, melanoma inhibitory activity 2 |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 12 |
Molecular Note | ENU mutagenesis induced a T to C mutation that results in the amino acid substitution of serine for phenylalanine at position 91 (F91S). |
Mutations Made By | Nicholas Gekakis, San Diego State University |
When maintaining a live colony, homozygous mice may be bred together.
When using the C57BL/6-Mia2cpto/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #017461 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous for Mia2<cpto> |
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