An ENU-Germline Mutation Causing Spontaneous Hepatosteatosis Identified through Targeted Exon-Enrichment and Next-Generation Sequencing

2011

Identifying a Mutation Causing Liver Disease in Mice

Sample size: 20 publication 10 minutes Evidence: high

Author Information

Author(s): Sheridan Rachel, Lampe Kristin, Shanmukhappa Shiva Kumar, Putnam Patrick, Keddache Mehdi, Divanovic Senad, Bezerra Jorge, Hoebe Kasper

Primary Institution: Cincinnati Children's Hospital Medical Center

Can targeted exon-enrichment and next-generation sequencing identify mutations responsible for liver disease in mice?

The study identified a mutation in the Acox1 gene that leads to liver disease in mice, demonstrating a new method for mutation discovery.

The mutation was linked to a 14 Mb interval on chromosome 11 containing 285 genes.
Three homozygous mutations were identified, including one affecting a splice donor site in the Acox1 gene.
Acox1-deficient mice exhibited growth retardation and liver disease similar to the Lampe1 mutants.

Scientists found a gene mutation in mice that makes them sick, and they used a special method to find it quickly.

The researchers used ENU mutagenesis, low resolution mapping, and next-generation sequencing to identify mutations in mice.

Potential bias in the selection of mouse strains and phenotypes could affect the generalizability of the findings.

The study primarily focused on a single mutation and its effects, which may not represent all cases of liver disease.

The study involved G3 germline mutant mice, specifically two female siblings with growth retardation.

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