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

Npc1^m1N
Spontaneous Allele Detail

Summary

Symbol:	Npc1^m1N
Name:	NPC intracellular cholesterol transporter 1; 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: Chr18:12322749-12369457 bp, - strand Genetic Position: Chr18, 6.15 cM
Alliance:	Npc1^m1N page

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 phenotype image(s) involving this allele.

Mutation
origin

Strain of Origin:

BALB/c

Mutation
description

Allele Type:		Spontaneous
Mutation:		Transposon insertion
		Mutation details: 824 bp of MaLR retroposon-like DNA replaced 703 bp of wild-type genomic sequence spanning 44 bp of an exon and 659 bp of the downstream intron. The insertion results in premature truncation of the protein deleting 11 out of 13 transmembrane domains. Northern blot analysis revealed marked decrease in gene expression in liver and brain from homozygous mutant animals. (J:41469)
Inheritance:		Recessive

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Mice Carrying this Mutation:	2 assay results 7 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	43 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 3 strains available Cell Lines: 0 lines available
Carrying any Npc1 Mutation:	74 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:	237 reference(s)

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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