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B6.Cg-Gnat1irdr/Boc
Stock No: 008811 | retinal degeneration 17
  • Congenic
  • Spontaneous Mutation
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    • Detailed Description
    • Development
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    • Disease Terms
    • Research Areas By Phenotype
    • Mammalian Phenotype Terms by Genotype
    • References
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Overview

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

This spontaneous mutation causes retinal rod cell dysfunction but permits normal cone function.

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Genetic overview

Genetic Background Generation
000664 C57BL/6J
N6F5
(2020-04-23 00:00:00)

Gnat1irdr

Allele Type Gene Symbol Gene Name
Spontaneous Gnat1 guanine nucleotide binding protein, alpha transducing 1
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Research Applications

  • Sensorineural Research
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Base Price

Starting at:

$242.59 Domestic price for female
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Details

Detailed Description

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 Gnat2cpfl3 and Gnat1irdr alleles were in STOCK Tg(tetO-HIST1H2BJ/GFP)47Efu/J, which derived from CD1. Non-transgenic mice from this line that were carrying the Gnat2cpfl3 and Gnat1irdr alleles were sibling intercrossed for several generations and then the Gnat1indr mutation was bred away from Gnat2cpfl3 by backcrossing to C57BL/6J to generate this congenic strain. This strain was then sibling inbred to homozygosity for Gnat1irdr.

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: 19815523MGI: J:153749
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Genetics

Gnat1irdr

Allele Symbol: Gnat1irdr

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: Gnat1irdr 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: Gnat1irdr/Gnat1irdr
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
    • (MGI Ref ID J:119862)
    • 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
    • (MGI Ref ID J:119862)
    • 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
    • (MGI Ref ID J:119862)

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: 19815523MGI: J:153749

Additional - Gnat1irdr related

Technical Support

CONTACT TECHNICAL SUPPORT
  • Genotyping Protocols

    • Genotyping resources and troubleshooting
  • 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)

Pricing & Availability

Availability Varies
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Live Mouse

Age Genotype Price
weeks

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Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

The Jackson Laboratory's Genotype Promise

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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Email: TechTran@jax.org

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