Human Disease and Mouse Model Detail

Human Disease

Term: Citrullinemia, Classic
OMIM ID: 215700

Synonyms

Argininosuccinate Synthetase Deficiency; ASS Deficiency; Citrullinemia, Type I; CTLN1; Citrullinuria

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...

Ass1

ASS1

...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
Ass1^bar/Ass1^fold		involves: C57BL/6Ei * C57BL/6J * OF1 * P/J	J:165341
Ass1^bar/Ass1^bar		B6.BAR-Ass1^bar	J:165341
Ass1^bar/Ass1^bar		FVB.BAR-Ass1^bar	J:165341
Ass1^fold/Ass1^fold		B6Ei.P-Ass1^fold/GrsrJ	J:165341
Ass1^fold/Ass1^fold		involves: C57BL/6JEiJ * P/J	J:165341
Ass1^tm1Bay/Ass1^tm1Bay		involves: 129S7/SvEvBrd * C57BL/6J	J:18326

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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