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Fig. 1 | Human Genomics

Fig. 1

From: Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder

Fig. 1

Generation and characterization of Aldh1l2 knockout mice. a Schematic presentation of the Aldh1l2 gene-trapping vector. Ex, exon; FRT, Flp-recombinase target; loxP, Cre-recombinase site. Primers for mouse genotyping and their approximate target locations are shown (WTf and WTr, primers for the wild type allele; RAF5-l2 and TTR1-l2, primers for the disrupted allele). b PCR-based genotyping of the wild type Aldh1l2 allele (WTf/WTr primer pair) generates a 338 bp fragment, whereas amplification of the disrupted allele (RAF5-l2/TTR1-l2 primer pair) generates a 598-bp fragment. c Levels of Aldh1l2 and Aldh1l1 mRNA in the pancreas and liver of wild type and Aldh1l2 KO mice measured by RT-PCR. d Western blot assays of mitochondria (upper panels) and cytosol (lower panels) from pancreas of Aldh1l2+/+, Aldh1l2+/−, and Aldh1l2−/− mice (n = 3). e Western blot assays of mitochondria (upper panel) and cytosol (lower panel) from livers of Aldh1l2+/+ and Aldh1l2−/− mice (n = 2). St, molecular weight standards. f H&E and g Oil Red O staining of the liver tissue from Aldh1l2+/+ and Aldh1l2-/- male mice (two mice for each genotype were analyzed)

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Human Genomics

ISSN: 1479-7364