Prkcq^rpea1
Spontaneous Allele Detail

Summary

• Symbol: Prkcq^rpea1
• Name: protein kinase C, theta; retinal pigment epithelium atrophy 1
• MGI ID: MGI:5639127
• Synonyms: nm3342
• Gene: Prkcq Location: Chr2:11176922-11306033 bp, + strand Genetic Position: Chr2, 8.42 cM
• Alliance: Prkcq^rpea1 page

Mutation origin

• Strain of Origin: ABJ/LeJ

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: A 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

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 anatomical structure(s)

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: 51 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)