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Prkcqrpea1
Spontaneous Allele Detail
Nomenclature
Symbol: Prkcqrpea1
Name: protein kinase C, theta; retinal pigment epithelium atrophy 1
MGI ID: MGI:5639127
Synonyms: nm3342
Gene: Prkcq  Location: Chr2:11172108-11301222 bp, + strand  Genetic Position: Chr2, 8.42 cM
Mutation
origin
Strain of Origin:  ABJ/LeJ
Mutation
description
Allele Type:    Spontaneous (Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsA G-to-A transition in the fifth base in intron 6 (GTAAG to GTAAA) affects the splice donor site causes skipping of exon 6, a frameshift, and premature stop codon. Protein was not detected by western blot analysis on extracts of eye, indicating that this is a null allele. (J:237977)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Prkcq Mutation:  7 strains or lines available
References
Original:  J:237977 Ji X, et al., Retinal Pigment Epithelium Atrophy 1 (rpea1): A New Mouse Model With Retinal Detachment Caused by a Disruption of Protein Kinase C, theta. Invest Ophthalmol Vis Sci. 2016 Mar;57(3):877-88
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
02/23/2021
MGI 6.16
The Jackson Laboratory