About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Slc7a9tm1Nune
targeted mutation 1, Virginia Nunes
MGI:2677350
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Slc7a9tm1Nune/Slc7a9tm1Nune involves: 129P2/OlaHsd * C57BL/6J MGI:2677399
ht2
 		Slc7a9tm1Nune/Slc7a9+ involves: 129P2/OlaHsd * C57BL/6J MGI:2677400


Genotype
MGI:2677399
hm1
Allelic
Composition		 Slc7a9tm1Nune/Slc7a9tm1Nune
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc7a9tm1Nune mutation (0 available); any Slc7a9 mutation (34 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal circulating amino acid level ( J:85462 )
• plasma cystine and lysine levels were ~30% lower than those of wild-type
• plasma levels of other amino acids did not statistically differ from those of wild-type
aminoaciduria ( J:85462 )
• increased urinary levels of cystine, lysine, arginine, ornithine and glutamine
crystalluria ( J:85462 )
• 82% showed hexagonal cystine crystals in the urine; crystalluria

renal/urinary system
aminoaciduria ( J:85462 )
• increased urinary levels of cystine, lysine, arginine, ornithine and glutamine
crystalluria ( J:85462 )
• 82% showed hexagonal cystine crystals in the urine; crystalluria
tubulointerstitial nephritis ( J:85462 )
• interstitial inflammation
abnormal renal tubule morphology ( J:85462 )
• tubular hyaline deposits, dilation, and necrosis
renal cast ( J:85462 )
• tubular hyaline deposits
increased urinary bladder weight ( J:85462 )
• increased weight
urolithiasis ( J:85462 )
• 42% developed cystine calculi in the urinary system
• calculi developed within the first month of life and continued to increase in size over the lifespan of the mouse

immune system
tubulointerstitial nephritis ( J:85462 )
• interstitial inflammation

cellular

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
cystinuria DOID:9266 OMIM:220100
 J:85462




Genotype
MGI:2677400
ht2
Allelic
Composition		 Slc7a9tm1Nune/Slc7a9+
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc7a9tm1Nune mutation (0 available); any Slc7a9 mutation (34 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
aminoaciduria ( J:85462 )
• urine contained increased levels cystine, lysine, arginine, and ornithine; these levels were lower than those detected in homozygous mice
• urinary hexagonal crystals were undetected

renal/urinary system
aminoaciduria ( J:85462 )
• urine contained increased levels cystine, lysine, arginine, and ornithine; these levels were lower than those detected in homozygous mice
• urinary hexagonal crystals were undetected

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
cystinuria DOID:9266 OMIM:220100
 J:85462




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory