Strain Name:

B6.Cg-Gnat2cpfl3/Boc

Stock Number:

006795

Order this mouse

Availability:

Research Strain

Gnat2cpfl3 homozyogtes have poor cone-mediated responses evident by 3 weeks of age and completely lack cone-mediated responses from 9 weeks of age on.

Description

Strain Information

Type Congenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse

Important Note
The cpfl3 mutation provides a model for achromatopsia 4.

Description
Electroretinography shows that cpfl3 homozyogtes have poor cone-mediated responses evident by 3 week of age and completely lack cone-mediated responses from 9 weeks of age on. Rod-mediated responses are nearly normal, but with some diminution with age. Histology shows the normal 8 to 10 rows of rod nuclei at 6 and 15 weeks of age, but vacuolization and shortening of the photoreceptor outer segments is found at 27 weeks of age. Loss of immunohistochemical staining of cone-specific alpha transducin occurs by 4 weeks of age yet peanut agglutinin staining shows a normal number of cone outer segments at 14 weeks of age. Fundus photographs are essentially normal except for slightly dilated retinal veins and slightly contracted arterioles at 8 months of age.

Development
The Gnat2cpfl3mutation was found in the ALS/LtJ strain and first reported in 2006. The mutation consists of a single nucleotide substitution of G to A at position 598 in exon 6. This mutation converts codon 200 from aspartic acid to asparagine.

Related Strains

View Strains carrying   Gnat2cpfl3     (14 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Achromatopsia 4; ACHM4
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

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

Gnat2cpfl3/Gnat2cpfl3

        ALS/LtJ
  • vision/eye phenotype
  • abnormal cone electrophysiology
    • photopic responses are 25% of normal by 4 weeks of age and completely diminished by 9 months   (MGI Ref ID J:122428)
    • scotopic (rod) responses show some diminution, but are near normal by 9 months of age   (MGI Ref ID J:122428)
  • abnormal photoreceptor outer segment morphology
    • outer segments are vacuolated by 27 weeks of age   (MGI Ref ID J:122428)
  • abnormal retinal cone cell morphology
    • reduced labeling for alpha-transducin in cone outer segments as determined by immunocytochemistry, however, PNA staining reveals a normal number of cone outer segments   (MGI Ref ID J:122428)
  • abnormal retinal vasculature morphology
    • dilated retinal veins and slightly constricted arterioles are observed in 8 month old mice   (MGI Ref ID J:122428)
  • nervous system phenotype
  • abnormal photoreceptor outer segment morphology
    • outer segments are vacuolated by 27 weeks of age   (MGI Ref ID J:122428)
  • abnormal retinal cone cell morphology
    • reduced labeling for alpha-transducin in cone outer segments as determined by immunocytochemistry, however, PNA staining reveals a normal number of cone outer segments   (MGI Ref ID J:122428)
  • cardiovascular system phenotype
  • abnormal retinal vasculature morphology
    • dilated retinal veins and slightly constricted arterioles are observed in 8 month old mice   (MGI Ref ID J:122428)
View Research Applications

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

Gnat2cpfl3 related

Sensorineural Research
Eye Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Gnat2cpfl3
Allele Name cone photoreceptor function loss 3
Allele Type Spontaneous
Strain of Originvarious
Gene Symbol and Name Gnat2, guanine nucleotide binding protein, alpha transducing 2
Chromosome 3
Gene Common Name(s) ACHM4; AW490837; GNATC; Gnat-2; Gt-2; Tcalpha; expressed sequence AW490837;
General Note This allele has been detected in the following strains either by genotyping or complementation testing: ALS/LtJ, SENCARA/PtJ, SENCARB/PtJ, SENCARC/PtJ, PN/nBSwUmabJ. (J:122428)
Molecular Note A single nucleotide substitution of G to A at position 598 in exon 6. This mutation converts codon 200 from aspartic acid to asparagine. [MGI Ref ID J:122428]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Gnat2cpfl3 related

Alexander JJ; Umino Y; Everhart D; Chang B; Min SH; Li Q; Timmers AM; Hawes NL; Pang JJ; Barlow RB; Hauswirth WW. 2007. Restoration of cone vision in a mouse model of achromatopsia. Nat Med 13(6):685-7. [PubMed: 17515894]  [MGI Ref ID J:121897]

Allen AE; Cameron MA; Brown TM; Vugler AA; Lucas RJ. 2010. Visual responses in mice lacking critical components of all known retinal phototransduction cascades. PLoS One 5(11):e15063. [PubMed: 21124780]  [MGI Ref ID J:167121]

Altimus CM; Guler AD; Alam NM; Arman AC; Prusky GT; Sampath AP; Hattar S. 2010. Rod photoreceptors drive circadian photoentrainment across a wide range of light intensities. Nat Neurosci 13(9):1107-12. [PubMed: 20711184]  [MGI Ref ID J:165280]

Chang B; Dacey MS; Hawes NL; Hitchcock PF; Milam AH; Atmaca-Sonmez P; Nusinowitz S; Heckenlively JR. 2006. Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. Invest Ophthalmol Vis Sci 47(11):5017-21. [PubMed: 17065522]  [MGI Ref ID J:122428]

Chang B; Hawes NL; Hurd RE; Wang J; Howell D; Davisson MT; Roderick TH; Nusinowitz S; Heckenlively JR. 2005. Mouse models of ocular diseases. Vis Neurosci 22(5):587-93. [PubMed: 16332269]  [MGI Ref ID J:156373]

Chang B; Hurd R; Wang J; Nishina P. 2013. Survey of common eye diseases in laboratory mouse strains. Invest Ophthalmol Vis Sci 54(7):4974-81. [PubMed: 23800770]  [MGI Ref ID J:198916]

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):17681-6. [PubMed: 19815523]  [MGI Ref ID J:153749]

Jones RS; Pedisich M; Carroll RC; Nawy S. 2014. Spatial organization of AMPAR subtypes in ON RGCs. J Neurosci 34(2):656-61. [PubMed: 24403163]  [MGI Ref ID J:205576]

Naarendorp F; Esdaille TM; Banden SM; Andrews-Labenski J; Gross OP; Pugh EN Jr. 2010. Dark light, rod saturation, and the absolute and incremental sensitivity of mouse cone vision. J Neurosci 30(37):12495-507. [PubMed: 20844144]  [MGI Ref ID J:164666]

Nusinowitz S; Ridder WH 3rd; Ramirez J. 2007. Temporal response properties of the primary and secondary rod-signaling pathways in normal and Gnat2 mutant mice. Exp Eye Res 84(6):1104-14. [PubMed: 17408617]  [MGI Ref ID J:126462]

Sakami S; Kolesnikov AV; Kefalov VJ; Palczewski K. 2014. P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis. Hum Mol Genet 23(7):1723-41. [PubMed: 24214395]  [MGI Ref ID J:207143]

Umino Y; Solessio E; Barlow RB. 2008. Speed, spatial, and temporal tuning of rod and cone vision in mouse. J Neurosci 28(1):189-98. [PubMed: 18171936]  [MGI Ref ID J:131050]

Wang YV; Weick M; Demb JB. 2011. Spectral and temporal sensitivity of cone-mediated responses in mouse retinal ganglion cells. J Neurosci 31(21):7670-81. [PubMed: 21613480]  [MGI Ref ID J:191557]

Won J; Shi LY; Hicks W; Wang J; Hurd R; Naggert JK; Chang B; Nishina PM. 2011. Mouse model resources for vision research. J Ophthalmol 2011:391384. [PubMed: 21052544]  [MGI Ref ID J:166679]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           A1

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $250.60Female or MaleHomozygous for Gnat2cpfl3  
Price per Pair (US dollars $)Pair Genotype
$501.20Homozygous for Gnat2cpfl3 x Homozygous for Gnat2cpfl3  

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $325.80Female or MaleHomozygous for Gnat2cpfl3  
Price per Pair (US dollars $)Pair Genotype
$651.60Homozygous for Gnat2cpfl3 x Homozygous for Gnat2cpfl3  

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

General Supply Notes

Important Note

The cpfl3 mutation provides a model for achromatopsia 4.

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.


See Terms of Use tab for General Terms and Conditions


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.
Ordering Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

Terms of Use

Terms of Use


General Terms and Conditions


Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:207-288-6470

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


(6.6)