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PctpR120H
Spontaneous Allele Detail
Summary
Symbol: PctpR120H
Name: phosphatidylcholine transfer protein; R120H
MGI ID: MGI:3691424
Gene: Pctp  Location: Chr11:89873491-89893720 bp, - strand  Genetic Position: Chr11, 54.7 cM
Alliance: PctpR120H page
Mutation
origin
Strain of Origin:  NZO
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA G-to-A transition in exon 4 resulted in the arginine to histidine substitution at amino acid 120 (p.R120H) in NZO, NZB/BINJ and NZW/LacJ strains. This mutation renders the protein inactive. (J:114974)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Tumor Data
List all tumor models in MMHCdb carrying PctpR120H
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Pctp Mutation:  15 strains or lines available
References
Original:  J:114974 Pan HJ, et al., A polymorphism in New Zealand inbred mouse strains that inactivates phosphatidylcholine transfer protein. FEBS Lett. 2006 Oct 30;580(25):5953-8
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory