Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

Symbol:	Npc1em1Pav
Name:	NPC intracellular cholesterol transporter 1; endonuclease-mediated mutation 1, William J Pavan
MGI ID:	MGI:5907183
Synonyms:	Npc1S1062_I1064del
Gene:	Npc1  Location: Chr18:12322749-12369457 bp, - strand  Genetic Position: Chr18, 6.15 cM
Alliance:	Npc1em1Pav page

Strain of Origin:

C57BL/6J

Allele Type:    Endonuclease-mediated (Null/knockout) Mutation:    Intragenic deletion   Mutation details: CRISPR/Cas9 genome editing technology was used to delete the nucleotides encoding serine 1062 through isoleucine 1064. (J:286285)

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

Original:	J:286285 Rodriguez-Gil JL, et al., Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1. Dis Model Mech. 2020 Jan 29;:dmm042614
All:	1 reference(s)