On this C57BL/6J congenic background this spontaneous mutation in Gnat1 causes homozygotes to have abnormal dark-adapted electroretinogram as early as 3 weeks of age, the earliest timepoint assessed. While rod and cone transducins can substitute for each other to some degree, these homozygotes have normal cone function but rod dysfunction. No abnormalities are detected in retinal structure by 6 months of age.

Development

Dr. Bo Chang found that both the Gnat2^cpfl3 and Gnat1^irdr alleles were in STOCK Tg(tetO-HIST1H2BJ/GFP)47Efu/J, which derived from CD1. Non-transgenic mice from this line that were carrying the Gnat2^cpfl3 and Gnat1^irdr alleles were sibling intercrossed for several generations and then the Gnat1^indr mutation was bred away from Gnat2^cpfl3 by backcrossing to C57BL/6J to generate this congenic strain. This strain was then sibling inbred to homozygosity for Gnat1^irdr.

Control Suggestions

000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Selected References

Chang B; Hawes NL; Hurd RE; WAng J; Davisson MT; Nusinowitz S; Heckenlively JR. 2007. A New Mouse Model of Retinal Degeneration (rd17) Invest Ophthalmol Vis Sci 48(13):4513MGI: J:167194
Deng WT; Sakurai K; Liu J; Dinculescu A; Li J; Pang J; Min SH; Chiodo VA; Boye SL; Chang B; Kefalov VJ; Hauswirth WW. 2009. Functional interchangeability of rod and cone transducin alpha-subunits. Proc Natl Acad Sci U S A 106(42):17681-6PubMed: 19815523 MGI: J:153749

View All References

Genetics

Gnat1^irdr

Allele Symbol: Gnat1^irdr

Allele Name	ICR derived retinal dysfunction rod
Allele Type	Spontaneous
Allele Synonym(s)	rd17; retinal degeneration 17
Gene Symbol and Name	Gnat1, guanine nucleotide binding protein, alpha transducing 1
Gene Synonym(s)
Strain of Origin	ICR
Chromosome	9
General Note	Mice homozygous for this mutation have impaired rod electrophysiology but normal retinal morphology.
Molecular Note	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.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Sensorineural Research

Genotype: Gnat1^irdr related

Sensorineural Research
- Eye Defects

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Gnat1^irdr/Gnat1^irdr
involves: ICR

vision/eye phenotype

abnormal cone electrophysiology
- at 1 month of age, mice have shorter implicit time of b-waves at all recorded intensities than ICR mice
- at 1 month of age, scotopic flash electroretinographs (ERGs) show a loss of a-waves an elevated stimulus intensity threshold, and a sever reduction in b-wave amplitudes that is more severe in Ird1 mice
- Normal - however, photopic flash ERGs, intensity-response functions, and photopic flicker are normal, and overall structure and retinal layer thickness is normal up to at least 3 months of age

References

Chang B; Hawes NL; Hurd RE; WAng J; Davisson MT; Nusinowitz S; Heckenlively JR. 2007. A New Mouse Model of Retinal Degeneration (rd17) Invest Ophthalmol Vis Sci 48(13):4513MGI: J:167194
Deng WT; Sakurai K; Liu J; Dinculescu A; Li J; Pang J; Min SH; Chiodo VA; Boye SL; Chang B; Kefalov VJ; Hauswirth WW. 2009. Functional interchangeability of rod and cone transducin alpha-subunits. Proc Natl Acad Sci U S A 106(42):17681-6PubMed: 19815523 MGI: J:153749

Additional - Gnat1^irdr related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
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Mating System
- Homozygote x Homozygote
Citation
When using the retinal degeneration 17 mouse strain in a publication, please cite the originating article(s) and include JAX stock #008811 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

MGL277 (Low)

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Also Known As:ICR derived retinal dysfunction rod, retinal degeneration 17

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