A mouse model of type B cystinuria due to spontaneous mutation in FVB/NJcl mice
Cystinuria is an autosomal metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes, encoding the amino acid transporter proteins rBAT and b 0,+ AT, respectively. Based on the causative gene, cystinuria is classified into 3 types: type A ( SLC3A1 ), type B ( SLC7A9 ), and type AB ( SLC3...
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| Veröffentlicht in: | Urolithiasis 2022-12, Vol.50 (6), p.679-684 |
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| creator | Sasaki, Hayato Sasaki, Takeru Hiura, Koki Watanabe, Masaki Sasaki, Nobuya |
| description | Cystinuria is an autosomal metabolic disorder caused by mutations in the
SLC3A1
and
SLC7A9
genes, encoding the amino acid transporter proteins rBAT and b
0,+
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. |
| doi_str_mv | 10.1007/s00240-022-01356-9 |
| format | Article |
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SLC3A1
and
SLC7A9
genes, encoding the amino acid transporter proteins rBAT and b
0,+
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.</description><identifier>ISSN: 2194-7236</identifier><identifier>ISSN: 2194-7228</identifier><identifier>EISSN: 2194-7236</identifier><identifier>DOI: 10.1007/s00240-022-01356-9</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Amino acids ; Bladder ; Genes ; Genomics ; Laboratory animals ; Medical Biochemistry ; Medicine ; Medicine & Public Health ; Metabolic disorders ; Mutation ; Nephrology ; Original Article ; Rodents ; Urinary tract diseases ; Urine ; Urology</subject><ispartof>Urolithiasis, 2022-12, Vol.50 (6), p.679-684</ispartof><rights>The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022. Springer Nature or its licensor holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c352t-5de55feec349a8241ce1b5a94eaafdec6e8098bf52e8f9c0bc09862ae66854593</citedby><cites>FETCH-LOGICAL-c352t-5de55feec349a8241ce1b5a94eaafdec6e8098bf52e8f9c0bc09862ae66854593</cites><orcidid>0000-0003-0162-4774 ; 0000-0002-7971-3024</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00240-022-01356-9$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00240-022-01356-9$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids></links><search><creatorcontrib>Sasaki, Hayato</creatorcontrib><creatorcontrib>Sasaki, Takeru</creatorcontrib><creatorcontrib>Hiura, Koki</creatorcontrib><creatorcontrib>Watanabe, Masaki</creatorcontrib><creatorcontrib>Sasaki, Nobuya</creatorcontrib><title>A mouse model of type B cystinuria due to spontaneous mutation in FVB/NJcl mice</title><title>Urolithiasis</title><addtitle>Urolithiasis</addtitle><description>Cystinuria is an autosomal metabolic disorder caused by mutations in the
SLC3A1
and
SLC7A9
genes, encoding the amino acid transporter proteins rBAT and b
0,+
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.</description><subject>Amino acids</subject><subject>Bladder</subject><subject>Genes</subject><subject>Genomics</subject><subject>Laboratory animals</subject><subject>Medical Biochemistry</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic disorders</subject><subject>Mutation</subject><subject>Nephrology</subject><subject>Original Article</subject><subject>Rodents</subject><subject>Urinary tract diseases</subject><subject>Urine</subject><subject>Urology</subject><issn>2194-7236</issn><issn>2194-7228</issn><issn>2194-7236</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>BENPR</sourceid><recordid>eNp9kDtPwzAUhS0EElXpH2CyxMISaju2E49tRXkI0QVYLde5QamSuNjO0H-PS5BADNzhPqTvHh0dhC4puaGEFPNACOMkI4xlhOZCZuoETRhVPCtYLk9_7edoFsKOpFJKcUomaLPAnRsCpF5Bi12N42EPeIntIcSmH3xjcDUAjg6Hveuj6SHhuBuiiY3rcdPj9dty_vxoW9w1Fi7QWW3aALPvOUWv69uX1X32tLl7WC2eMpsLFjNRgRA1gM25MiXj1ALdCqM4GFNXYCWURJXbWjAoa2XJ1qZTMgNSloILlU_R9ai79-5jgBB11wQLbTsa1KwgvCxyxmRCr_6gOzf4PrlLFJOSiJRcothIWe9C8FDrvW864w-aEn2MWY8x6wTrr5j10UU-PoUE9-_gf6T_-foEh19-dw</recordid><startdate>20221201</startdate><enddate>20221201</enddate><creator>Sasaki, Hayato</creator><creator>Sasaki, Takeru</creator><creator>Hiura, Koki</creator><creator>Watanabe, Masaki</creator><creator>Sasaki, Nobuya</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</general><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-0162-4774</orcidid><orcidid>https://orcid.org/0000-0002-7971-3024</orcidid></search><sort><creationdate>20221201</creationdate><title>A mouse model of type B cystinuria due to spontaneous mutation in FVB/NJcl mice</title><author>Sasaki, Hayato ; Sasaki, Takeru ; Hiura, Koki ; Watanabe, Masaki ; Sasaki, Nobuya</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c352t-5de55feec349a8241ce1b5a94eaafdec6e8098bf52e8f9c0bc09862ae66854593</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Amino acids</topic><topic>Bladder</topic><topic>Genes</topic><topic>Genomics</topic><topic>Laboratory animals</topic><topic>Medical Biochemistry</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolic disorders</topic><topic>Mutation</topic><topic>Nephrology</topic><topic>Original Article</topic><topic>Rodents</topic><topic>Urinary tract diseases</topic><topic>Urine</topic><topic>Urology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sasaki, Hayato</creatorcontrib><creatorcontrib>Sasaki, Takeru</creatorcontrib><creatorcontrib>Hiura, Koki</creatorcontrib><creatorcontrib>Watanabe, Masaki</creatorcontrib><creatorcontrib>Sasaki, Nobuya</creatorcontrib><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Urolithiasis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sasaki, Hayato</au><au>Sasaki, Takeru</au><au>Hiura, Koki</au><au>Watanabe, Masaki</au><au>Sasaki, Nobuya</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A mouse model of type B cystinuria due to spontaneous mutation in FVB/NJcl mice</atitle><jtitle>Urolithiasis</jtitle><stitle>Urolithiasis</stitle><date>2022-12-01</date><risdate>2022</risdate><volume>50</volume><issue>6</issue><spage>679</spage><epage>684</epage><pages>679-684</pages><issn>2194-7236</issn><issn>2194-7228</issn><eissn>2194-7236</eissn><abstract>Cystinuria is an autosomal metabolic disorder caused by mutations in the
SLC3A1
and
SLC7A9
genes, encoding the amino acid transporter proteins rBAT and b
0,+
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.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><doi>10.1007/s00240-022-01356-9</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0003-0162-4774</orcidid><orcidid>https://orcid.org/0000-0002-7971-3024</orcidid></addata></record> |
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| subjects | Amino acids Bladder Genes Genomics Laboratory animals Medical Biochemistry Medicine Medicine & Public Health Metabolic disorders Mutation Nephrology Original Article Rodents Urinary tract diseases Urine Urology |
| title | A mouse model of type B cystinuria due to spontaneous mutation in FVB/NJcl mice |
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