Npc1^tm1.2Apl
Targeted Allele Detail

Summary

• Symbol: Npc1^tm1.2Apl
• Name: NPC intracellular cholesterol transporter 1; targeted mutation 1.2, Andrew P Lieberman
• MGI ID: MGI:4431253
• Synonyms: Npc1^delta
• Gene: Npc1 Location: Chr18:12322749-12369457 bp, - strand Genetic Position: Chr18, 6.15 cM
• Alliance: Npc1^tm1.2Apl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:157113
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Cre mediated recombination removed exon 9. The absence of protein expression was confirmed by western blot analysis on liver extracts. (J:157113)

Disease models

Expression

In Structures Affected by this Mutation:

1 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: 72 strains or lines available

References

• Original: J:157113 Elrick MJ, et al., Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration. Hum Mol Genet. 2010 Mar 1;19(5):837-47
• All: 4 reference(s)