Npc1<m1N> Spontaneous Allele Detail MGI Mouse (MGI:1857409)

Npc1^m1N
Spontaneous Allele Detail

Nomenclature

Symbol:	Npc1^m1N
Name:	Niemann Pick type C1; Niemann Pick type C1 NIH
MGI ID:	MGI:1857409
Synonyms:	CSD, lcsd, lysosomal cholesterol storage disease, nctr, -^npc, Npc-, NPC, NPC1, NPC1-, Npc1^N, npc1^NIH, npc^nih
Gene:	Npc1 Location: Chr18:12189693-12236400 bp, - strand Genetic Position: Chr18, 6.15 cM

Neurodegenerative changes affecting cerebullar Purkinje cells of Npc1^m1N/Npc1^m1N, Npc2^tm1Plob/Npc2^tm1Plob, and double homozygous mice for Npc1^m1N and Npc2^tm1Plob

Show the 3 image(s) involving this allele.

Mutation
origin

Strain of Origin:

BALB/c

Mutation
description

Allele Type:		Spontaneous
Mutation:		Transposon insertion
		Mutation details
Inheritance:		Recessive

Phenotypes

View phenotypes for all genotypes (concatenated display).

Disease models

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any Npc1 Mutation:	13 strains or lines available

References

Original:	J:83826 Morris MD et al., "Tissue cholesterol storage disorder in BALB/c mice" Fed Proc 1977;36():1158 (Abstr.)
All:	138 reference(s)

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