Literature DB >> 35988091

A mouse model of type B cystinuria due to spontaneous mutation in FVB/NJcl mice.

Hayato Sasaki1, Takeru Sasaki1, Koki Hiura1, Masaki Watanabe1, Nobuya Sasaki2.   

Abstract

Cystinuria is an autosomal metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes, encoding the amino acid transporter proteins rBAT and b0,+AT, respectively. Based on the causative gene, cystinuria is classified into 3 types: type A (SLC3A1), type B (SLC7A9), and type AB (SLC3A1 and SLC7A9). Patients with cystinuria exhibit hyperexcretion of cystine and dibasic amino acids in the urine and develop cystine crystals due to its low solubility in the urine, often resulting in calculus formation. In this study, we present an inbred strain FVB/NJcl mice affected with cystinuria. In the affected mouse kidney, Slc7a9 expression was completely abolished because of a large sequence deletion in the promoter region of the Slc7a9 mutant allele. Slc7a9-deficient mice with FVB/NJcl genetic background developed cystine calculi in the bladder with high penetrance, as compared to the previously reported mouse models of cystinuria. This model may be useful to understand the determinants of crystal aggregation, affecting calculus formation.
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Entities:  

Keywords:  Calculus formation; Cystine; Cystinuria; Mouse model; SLC7A9; Urolithiasis

Mesh:

Substances:

Year:  2022        PMID: 35988091     DOI: 10.1007/s00240-022-01356-9

Source DB:  PubMed          Journal:  Urolithiasis        ISSN: 2194-7228            Impact factor:   2.861


  17 in total

1.  Behavioral and neuroanatomical characterization of FVB/N inbred mice.

Authors:  Yann S Mineur; Wim E Crusio
Journal:  Brain Res Bull       Date:  2002-01-01       Impact factor: 4.077

Review 2.  Cystine growth inhibition through molecular mimicry: a new paradigm for the prevention of crystal diseases.

Authors:  Michael H Lee; Amrik Sahota; Michael D Ward; David S Goldfarb
Journal:  Curr Rheumatol Rep       Date:  2015-05       Impact factor: 4.592

Review 3.  Update on cystine stones: current and future concepts in treatment.

Authors:  Mohamad Moussa; Athanasios G Papatsoris; Mohamad Abou Chakra; Yasmin Moussa
Journal:  Intractable Rare Dis Res       Date:  2020-05

4.  Medical treatment of cystinuria: results of contemporary clinical practice.

Authors:  G K Chow; S B Streem
Journal:  J Urol       Date:  1996-11       Impact factor: 7.450

5.  New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

Authors:  M Font-Llitjós; M Jiménez-Vidal; L Bisceglia; M Di Perna; L de Sanctis; F Rousaud; L Zelante; M Palacín; V Nunes
Journal:  J Med Genet       Date:  2005-01       Impact factor: 6.318

6.  Spontaneous lesions in aging FVB/N mice.

Authors:  J F Mahler; W Stokes; P C Mann; M Takaoka; R R Maronpot
Journal:  Toxicol Pathol       Date:  1996 Nov-Dec       Impact factor: 1.902

7.  FVB/N: an inbred mouse strain preferable for transgenic analyses.

Authors:  M Taketo; A C Schroeder; L E Mobraaten; K B Gunning; G Hanten; R R Fox; T H Roderick; C L Stewart; F Lilly; C T Hansen
Journal:  Proc Natl Acad Sci U S A       Date:  1991-03-15       Impact factor: 11.205

Review 8.  Cystinuria.

Authors:  Aditya Mattoo; David S Goldfarb
Journal:  Semin Nephrol       Date:  2008-03       Impact factor: 5.299

9.  An efficient SNP system for mouse genome scanning and elucidating strain relationships.

Authors:  Petko M Petkov; Yueming Ding; Megan A Cassell; Weidong Zhang; Gunjan Wagner; Evelyn E Sargent; Steven Asquith; Victor Crew; Kevin A Johnson; Phil Robinson; Valerie E Scott; Michael V Wiles
Journal:  Genome Res       Date:  2004-09       Impact factor: 9.043

10.  α-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria.

Authors:  Tiffany Zee; Neelanjan Bose; Jarcy Zee; Jennifer N Beck; See Yang; Jaspreet Parihar; Min Yang; Sruthi Damodar; David Hall; Monique N O'Leary; Arvind Ramanathan; Roy R Gerona; David W Killilea; Thomas Chi; Jay Tischfield; Amrik Sahota; Arnold Kahn; Marshall L Stoller; Pankaj Kapahi
Journal:  Nat Med       Date:  2017-02-06       Impact factor: 53.440

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