Human Disease and Mouse Model Detail

Human Disease

Term: Niemann-Pick Disease, Type C1; NPC1
OMIM ID: 257220

Synonyms

Niemann-Pick Disease, Chronic Neuronopathic Form; Niemann-Pick Disease, Subacute Juvenile Form; Niemann-Pick Disease, Type C; NPC; Niemann-Pick Disease with Cholesterol Esterification Block; Niemann-Pick Disease without Sphingomyelinase Deficiency

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...

Npc1

NPC1

...both mouse and human orthologous genes.

Abcb1a	ABCB1
App	APP
Npc2	NPC2
Nr1h2	NR1H2

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Transgenes and
other mutation types

Tg(PRNP-APPSweInd)8Dwst

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Abcb1a^tm1Bor/Abcb1a^tm1Bor Npc1^m1N/Npc1^m1N		involves: 129/Ola * BALB/c	J:76395
App^tm1Dbo/App^tm1Dbo Npc1^m1N/Npc1^m1N		C.Cg-App^tm1Dbo Npc1^m1N	J:172769
Npc1^m1N/Npc1^m1N		involves: 129S1/Sv * BALB/c * C57BL/6	J:89617
Npc1^m1N/Npc1^m1N		BALB/cNctr-Npc1^m1N/J	J:182268
Npc1^m1N/Npc1^m1N Npc2^tm1Plob/Npc2^tm1Plob		involves: 129S1/Sv * BALB/c * C57BL/6	J:89617
Npc1^m1N/Npc1^m1N		involves: BALB/c	J:18511, J:76733, J:81305, J:130969
Npc1^m1N/Npc1^m1N		BALB/c-Npc1^m1N	J:172769
Npc1^m1N/Npc1^m1N Tg(PRNP-APPSweInd)8Dwst/0		involves: BALB/c * C3H/HeJ * C57BL/6J	J:188345
Npc1^m1N/Npc1^m1N		B6.C-Npc1^m1N	J:157113
Npc1^m1N/Npc1^tm1.2Apl		B6.Cg-Npc1^m1N/Npc1^tm1.2Apl	J:157113
Npc1^m1N/Npc1^m1N Nr1h2^tm1Djm/Nr1h2^tm1Djm		involves: 129S6/SvEvTac * BALB/c	J:130969
Npc1^m1N/Npc1^m1N		involves: BALB/c * C3H/HeJ * C57BL/6J	J:188345
Npc1^nmf164/Npc1^nmf164		C57BL/6J-Npc1^nmf164/J	J:179744
Npc1^spm/Npc1^spm		C57BLKS/J-Npc1^spm/J	J:6833
Npc1^tm1Mbjg/Npc1^tm1Mbjg		involves: 129S6/SvEvTac * C57BL/6J	J:176587
Models with phenotypic similarity to human disease where etiologies are distinct.²
Npc2^tm1Plob/Npc2^tm1Plob		involves: 129S1/Sv * BALB/c * C57BL/6	J:89617
Models involving transgenes or other mutation types.³
Npc1^m1N/Npc1^m1N Tg(PRNP-APPSweInd)8Dwst/0		involves: BALB/c * C3H/HeJ * C57BL/6J	J:188345

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
³Models involving transgenes or other mutation types may also appear in other sections of the table.

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