Gnat1^irdr
Spontaneous Allele Detail

Summary

• Symbol: Gnat1^irdr
• Name: G protein subunit alpha transducin 1; ICR derived retinal dysfunction rod
• MGI ID: MGI:3707708
• Synonyms: rd17, retinal degeneration 17
• Gene: Gnat1 Location: Chr9:107551636-107556833 bp, - strand Genetic Position: Chr9, 58.86 cM
• Alliance: Gnat1^irdr page

Mutation origin

• Strain of Origin: ICR

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The molecular mutation is a 57 bp deletion in intron 4 of the gene, which alters the splice donor site. This results in retention of the remaining 48 bp of the intron in the expressed mRNA. The insertion converts a cytosine to a guanine at nucleotide position 450 of the ORF and changes codon 150 (TAC) to a stop codon (TAG) (amino acid change: Tyr150Ter). Western blot analysis showed that no detectable protein is expressed from this allele. Because this mutation was found in ICR and CD1 it is carried in many strains, including IRD1 and IRD2. (J:158333, J:167194)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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 Gnat1 Mutation: 20 strains or lines available

Notes

Mice homozygous for this mutation have impaired rod electrophysiology but normal retinal morphology.

References

• Original: J:119862 Miyamoto M, et al., Visual electrophysiological features of two naturally occurring mouse models with retinal dysfunction. Curr Eye Res. 2006 Apr;31(4):329-35
• All: 17 reference(s)