Npc2^tm1Plob
Targeted Allele Detail

Summary

• Symbol: Npc2^tm1Plob
• Name: NPC intracellular cholesterol transporter 2; targeted mutation 1, Peter Lobel and David Sleat
• MGI ID: MGI:3044774
• Synonyms: NPC2^-
• Gene: Npc2 Location: Chr12:84801333-84819886 bp, - strand Genetic Position: Chr12, 39.37 cM
• Alliance: Npc2^tm1Plob 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 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:89617
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: As a result of aberrant recombination, a portion of the targeting vector that was designed to disrupt exon 2 with a floxed neo cassette instead inserted into intron 3. The endogenous exon 2 was left intact and was followed by duplicated regions of intron 1, the vector-derived exon 2 disrupted by the floxed neo cassette, and a duplicated region of intron 2. Sequence analysis identified an additional 24 bp of unknown origin at the site of insertion. This results in significant mis-splicing of the Npc2 mRNA, with ~4% of wild-type levels of correctly spliced message and protein detected by RT-PCR and western blotting, respectively. (J:89617)

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Npc2^tm1Plob

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 Npc2 Mutation: 23 strains or lines available

References

• Original: J:89617 Sleat DE, et al., Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc Natl Acad Sci U S A. 2004 Apr 20;101(16):5886-91
• All: 13 reference(s)