Canavan disease Disease Ontology Browser

Disease Ontology Browser

Canavan disease (DOID:3613)
Alliance: disease page
Synonyms: ACY2 DEFICIENCY; AMINOACYLASE 2 DEFICIENCY; ASP DEFICIENCY; ASPA DEFICIENCY; ASPARTOACYLASE DEFICIENCY; CANAVAN-VAN BOGAERT-BERTRAND DISEASE; Spongy degeneration of central nervous system
Alt IDs: OMIM:271900, MESH:D017825, NCI:C84611, UMLS_CUI:C0206307
Definition: A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13.

Disease References using Mouse Models (9)

Allelic Composition	Genetic Background	Reference	Phenotypes
Aspanur7/Aspanur7	involves: C57BL/6J	J:143201, J:226682	View
Aspatm1Mata/Aspatm1Mata	involves: 129S5/SvEvBrd	J:89100, J:89099	View
Aspatm1a(EUCOMM)Wtsi/Aspatm1a(EUCOMM)Wtsi	involves: C57BL/6J * C57BL/6N	J:172582	View
Aspadeaf14/Aspadeaf14	BALB/c-Aspa^deaf14	J:211825	View
Aspanur7/Aspanur7	STOCK Aspa^nur7/J	J:349783	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Sod2tm1Cje/Sod2tm1Cje	involves: C57BL/6J	J:45913	View

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)
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