Human Disease and Mouse Model Detail

Human Disease

Term: Cystinuria
OMIM ID: 220100

Synonyms

Csnu; Cystinuria, Type I, Formerly; CSNU1, FORMERLY; Cystinuria, Type II, Formerly; Cystinuria, Type III, Formerly; CSNU3, FORMERLY

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Slc3a1	SLC3A1
Slc7a9	SLC7A9

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Slc3a1^pbl/Slc3a1^pbl		C3HeB/FeJ	J:85461
Slc3a1^pbl/Slc3a1^pbl		involves: C3HeB/FeJ * MRL/MpJ	J:85461
Slc7a9^tm1Nune/Slc7a9^tm1Nune		involves: 129P2/OlaHsd * C57BL/6J	J:85462
Slc7a9^tm1Nune/Slc7a9⁺		involves: 129P2/OlaHsd * C57BL/6J	J:85462

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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