Niemann-Pick disease Disease Ontology Browser

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Disease Ontology Browser

Niemann-Pick disease (DOID:14504)
Alliance: disease page
Synonyms: lipoid histiocytosis; sphingomyelin lipidosis; Sphingomyelinase Deficiency Disease
Alt IDs: DOID:0050442, DOID:0050443, DOID:14770, ICD10CM:E75.24, MESH:D009542, NCI:C61269, UMLS_CUI:C0028064
Definition: A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.

Disease References using Mouse Models (52)

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 12/10/2024 MGI 6.24

Allelic Composition	Genetic Background	Reference	Phenotypes
Npc2tm1Plob/Npc2tm1Plob	involves: 129S1/Sv * BALB/c	J:204311	View
Npc2tm1Plob/Npc2tm1Plob	involves: 129S1/Sv * BALB/c * C57BL/6	J:89617	View
Npc1m1N/Npc1m1N Npc2tm1Plob/Npc2tm1Plob	involves: 129S1/Sv * BALB/c * C57BL/6	J:89617	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Smpd1tm1Wst/Smpd1tm1Wst	involves: 129P2/OlaHsd * C57BL/6	J:26748	View
Smpd1tm1Esc/Smpd1tm1Esc	involves: 129S1/Sv * C57BL/6J	J:26732, J:35076, J:44401, J:70489, J:78875, J:81982	View

Allelic Composition	Genetic Background	Reference	Phenotypes
fm/fm	involves: CBA/H	J:5696	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Npc1nmf164/Npc1nmf164	C57BL/6J-Npc1^nmf164/J	J:179744	View
Npc1spm/Npc1spm	C57BLKS/J-Npc1^spm/J	J:6833	View
Npc1m1N/Npc1m1N	B6.C-Npc1^m1N	J:157113	View
Npc1tm1Mbjg/Npc1tm1Mbjg	involves: 129S6/SvEvTac * C57BL/6J	J:176587	View
Npc1tm1.1Dso/Npc1tm1.1Dso	B6.129-Npc1^tm1.1Dso	J:221855	View
Npc1m1N/Npc1m1N	BALB/cNctr-Npc1^m1N/J	J:182268, J:209834	View
Npc1m1N/Npc1m1N	BALB/c-Npc1^m1N	J:172769	View
Npc1m1N/Npc1m1N Nr1h2tm1Djm/Nr1h2tm1Djm	involves: 129S6/SvEvTac * BALB/c	J:130969	View
Npc1m1N/Npc1m1N	involves: 129S1/Sv * BALB/c * C57BL/6	J:89617	View
Npc1m1N/Npc1m1N Npc2tm1Plob/Npc2tm1Plob	involves: 129S1/Sv * BALB/c * C57BL/6	J:89617	View
Npc1m1N/Npc1m1N	involves: BALB/c	J:18511, J:76733, J:81305, J:130969, J:204311	View
Npc1m1N/Npc1m1N	involves: BALB/c * C3H/HeJ * C57BL/6J	J:188345	View
Npc1m1N/Npc1tm1.1Apl Tg(CAG-cre/Esr1*)5Amc/0	B6J.Cg-Npc1^m1N/Npc1^tm1.1Apl Tg(CAG-cre/Esr1*)5Amc	J:176888	View
Npc1m1N/Npc1tm1.2Apl	B6.Cg-Npc1^m1N/Npc1^tm1.2Apl	J:157113	View
Npc1m1N/Npc1m1N Tg(PRNP-APPSweInd)8Dwst/0	involves: BALB/c * C3H/HeJ * C57BL/6J	J:188345	View
Apptm1Dbo/Apptm1Dbo Npc1m1N/Npc1m1N	C.Cg-App^tm1Dbo Npc1^m1N	J:172769	View
Abcb1atm1Bor/Abcb1atm1Bor Npc1m1N/Npc1m1N	involves: 129/Ola * BALB/c	J:76395	View