Npc1^tm1Mbjg
Targeted Allele Detail

Summary

• Symbol: Npc1^tm1Mbjg
• Name: NPC intracellular cholesterol transporter 1; targeted mutation 1, Joseph L Goldstein
• MGI ID: MGI:5293759
• Synonyms: npc1^pf
• Gene: Npc1 Location: Chr18:12322749-12369457 bp, - strand Genetic Position: Chr18, 6.15 cM
• Alliance: Npc1^tm1Mbjg page

Loss of Purkinje cells in the cerebellum and presence of foam cells in the liver and spleen of Npc1^tm1Mbjg/Npc1^tm1Mbjg mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:176587
• Parent Cell Line: SM1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

Allele Type: Targeted (Humanized sequence) Mutations: Insertion, Nucleotide substitutions Mutation details: A loxP site flanked neomycin resistance gene cassette was inserted into intron 4 and point mutations were introduced into exon 5, resulting in the substitution of proline 202 and phenylalanine 203 with alanines (p.(P202_F203delinsAA)) in the encoded proetin. Livers from homozygous mice show increased expression of the mutant mRNA and protein compared to endogenous gene expression in wild-type controls. Subcellular localization of the mutant protein is similar to wild-type. (J:176587)

Generation of the Npc1^tm1Mbjg allele

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

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

References

• Original: J:176587 Xie X, et al., Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice. Proc Natl Acad Sci U S A. 2011 Sep 13;108(37):15330-5
• All: 1 reference(s)