Article
The cld mutation: narrowing the critical chromosomal region and selecting candidate genes.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Oct 2006
Péterfy Miklós, Mao Hui Z, Doolittle Mark H
Abstract excerpt
Combined lipase deficiency (cld) is a recessive, lethal mutation specific to the tw73 haplotype on mouse Chromosome 17. While the cld mutation results in lipase proteins that are inactive, aggregated, and retained in the endoplasmic reticulum (ER), it maps separately from the lipase structural genes. We have narrowed the gene critical region by about 50% using the tw18 haplotype for deletion mapping and a...
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