Npc1^tm2Tacf
Targeted Allele Detail

Summary

• Symbol: Npc1^tm2Tacf
• Name: NPC intracellular cholesterol transporter 1; targeted mutation 2, The Addi and Cassi Fund
• MGI ID: MGI:6315236
• Synonyms: pioneer
• Gene: Npc1 Location: Chr18:12322749-12369457 bp, - strand Genetic Position: Chr18, 6.15 cM
• Alliance: Npc1^tm2Tacf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:266795
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Deletion
• Mutation details: The deletion of G at c.1920 (originally identified in a human Niemann-Pick disease type C (NPC) patient) and a stop codon in the position where translation terminates in the human NPC1 gene variant are introduced to mouse exon 12. This mutation is situated at the beginning of the SSD domain (important for cholesterol binding), and creates a premature stop codon that yields a truncated protein due to a frameshift. (J:266795)

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Npc1 Mutation: 74 strains or lines available

References

• Original: J:266795 Gomez-Grau M, et al., New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease. Sci Rep. 2017 Feb 7;7:41931
• All: 2 reference(s)