huSLC6A19 Mouse
Product Name
huSLC6A19 Mouse
Product ID
C002000
Strain Name
C57BL/6NCya-Slc6a19tm1(hSLC6A19)/Cya
Backgroud
C57BL/6NCya
Status
When using this mouse strain in a publication, please cite “huSLC6A19 Mouse (Catalog C002000) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Name
Gene Alias
HND, B0AT1
NCBI ID
Chromosome
Chr 5
MGI ID
Datasheet
Strain Description
The SLC6A19 gene encodes B0AT1, a sodium-dependent neutral amino acid transporter. Operating as the primary apical transporter, B0AT1 mediates the Na+-dependent (chloride-independent) uptake of most neutral amino acids across epithelial membranes to facilitate intestinal absorption and renal reabsorption [1]. This process requires essential accessory proteins: ACE2 in the intestine and collectrin (CLTRN) in the kidney for proper trafficking and functional activity. Primarily expressed in the small intestine and renal proximal tubules—with secondary expression in the pancreas, liver, and brain ependymal cells—B0AT1 is vital for systemic amino acid homeostasis. Mutations in this gene result in Hartnup disorder, an autosomal-recessive condition defined by neutral aminoaciduria and tryptophan/niacin deficiencies, which may manifest as pellagra-like rashes, ataxia, or neuropsychiatric issues such as ADHD [2]. Interestingly, SLC6A19 is now a therapeutic target. Pharmacological inhibition is being studied to manage phenylketonuria (PKU) by promoting urinary amino acid excretion [3]. Furthermore, inhibiting or deleting SLC6A19 mimics the effects of dietary protein restriction, offering metabolic benefits such as improved glucose tolerance, obesity prevention, and elevated levels of FGF21 and GLP-1 [4].
The huSLC6A19 mouse model was generated by replacing the sequences from the ATG start codon to 3'UTR of the endogenous mouse Slc6a19 gene with the sequences from the ATG start codon to 3'UTR of the human SLC6A19 gene. This model is applicable to research on metabolic disorders such as Hartnup disease, phenylketonuria (PKU), and obesity, as well as to the screening, development, and safety evaluation of SLC6A19-targeted drugs.
Reference
Xu J, Hu Z, Dai L, Yadav A, Jiang Y, Bröer A, Gardiner MG, McLeod M, Yan R, Bröer S. Molecular basis of inhibition of the amino acid transporter B0AT1 (SLC6A19). Nat Commun. 2024 Aug 22;15(1):7224.
Kravetz Z, Schmidt-Kastner R. New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19. IBRO Neurosci Rep. 2023 Mar 25;14:393-397.
Wobst HJ, Viader A, Muncipinto G, Hollibaugh R, van Kalken D, Burkhart CT, Cantin SM, Bates RM, Regimbald-Dumas Y, Gross L, Antalek MT, Zweig JE, Wu F, Rettenmaier TJ, Labenski MT, Pullen N, Blanchette HS, Henderson JL, Weng HH, Vaughn TA, Brown DG, Throup JP, Barrish JC. SLC6A19 inhibition facilitates urinary neutral amino acid excretion and lowers plasma phenylalanine. JCI Insight. 2024 Nov 8;9(21):e182876.
Javed K, Cheng Q, Carroll AJ, Truong TT, Bröer S. Development of Biomarkers for Inhibition of SLC6A19 (B⁰AT1)-A Potential Target to Treat Metabolic Disorders. Int J Mol Sci. 2018 Nov 14;19(11):3597.
Strain Strategy
The sequences from the ATG start codon to 3'UTR of the endogenous mouse Slc6a19 gene were replaced with the sequences from the ATG start codon to 3'UTR of the human SLC6A19 gene. The expression of mouse Slc6a19os may be affected by this KI region.
Figure 1. Diagram of the gene editing strategy for the generation of huSLC6A19 mice.
Application Area
Screening, development, and preclinical evaluation of SLC6A19-targeted drugs;
Research on the Hartnup disorder;
Research on the phenylketonuria (PKU);
Research on the pathological mechanism and treatment methods of metabolic diseases, such as obesity.
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