About   Help   FAQ
Fkrptvrm53
Chemically induced Allele Detail
Nomenclature
Symbol: Fkrptvrm53
Name: fukutin related protein; translational vision research model 53
MGI ID: MGI:5810875
Gene: Fkrp  Location: Chr7:16809246-16816732 bp, - strand  Genetic Position: Chr7, 9.15 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsThis ENU-induced mutation encodes a missense substitution of isoleucine 356 for threonine in the nucleotidyltransferase domain. (J:243745)
Inheritance:    Recessive
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 5 anatomical structures
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 Fkrp Mutation:  14 strains or lines available
References
Original:  J:243745 Krebs MP, et al., Mouse models of human ocular disease for translational research. PLoS One. 2017;12(8):e0183837
All:  1 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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/13/2019
MGI 6.14
The Jackson Laboratory