About   Help   FAQ
Cpoxnct
Spontaneous Allele Detail
Nomenclature
Symbol: Cpoxnct
Name: coproporphyrinogen oxidase; Nakano cataract
MGI ID: MGI:1856966
Synonyms: ca
Gene: Cpox  Location: Chr16:58670208-58680391 bp, + strand  Genetic Position: Chr16, 34.8 cM, cytoband C1.1
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Spontaneous (Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsA spontaneous G to T transversion in that results in the amino acid substitution of leucine for arginine at position 380 (R380L). Enzymatic assay confirmed reduced Cpox activity in the liver. This allele is hypomorphic. (J:196645, J:259613)
Inheritance:    Recessive
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 2 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 Cpox Mutation:  20 strains or lines available
Notes
The original mouse strain also contained a spontaneous A to G transition in Crybg3 that results in the amino acid substitution of aspartic acid for asparagine at position 744 (D744N). RT-PCR confirmed expression in lenses. While unlikely to be a pathogenic mutation, it remains unknown whether or not this mutation contributes to the phenotype.
References
Original:  J:155095 Nakano K, et al., Hereditary Cataract in Mice. Jap J Clin Opthalmol. 1960;14:194-200
All:  10 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
10/08/2019
MGI 6.14
The Jackson Laboratory