Npc1^tm1Tacf
Targeted Allele Detail

Summary

• Symbol: Npc1^tm1Tacf
• Name: NPC intracellular cholesterol transporter 1; targeted mutation 1, The Addi and Cassi Fund
• MGI ID: MGI:6315233
• Synonyms: imagine
• Gene: Npc1 Location: Chr18:12322749-12369457 bp, - strand Genetic Position: Chr18, 6.15 cM
• Alliance: Npc1^tm1Tacf 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: Nucleotide substitutions
• Mutation details: Intron 9 of the mouse Npc1 gene was replaced with intron 9 of the human NPC1 gene containing the c.1554-1009G to A substitution. This incorporation generates a premature stop codon and a truncated protein. The results of western blot analysis indicate a faint band similar to the wild type protein in brain, and the absence of a band in liver. (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)