Overview

Gnat2^cpfl3 homozyogtes have poor cone-mediated responses evident by 3 weeks of age and completely lack cone-mediated responses from 9 weeks of age on. This strain provides a model for achromatopsia 4.

Genetic overview

Genetic Background	Generation
	N5F?+21 (2020-04-23 00:00:00)

Gnat2^cpfl3

Allele Type	Gene Symbol	Gene Name
Spontaneous	Gnat2	guanine nucleotide binding protein, alpha transducing 2

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Research Applications

Sensorineural Research

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Base Price

Starting at:

$277.98 Domestic price for female

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Details

Detailed Description

On this C57BL/6J congenic background this spontaneous mutation in Gnat2 causes homozygotes to have an abnormal light-adapted electroretinogram as early as 3 weeks of age, the earliest timepoint assessed. Fundus photographs are normal and no abnormalities are detected in retinal structure by 6 months of age in optical coherence tomography and histology.

On the ALS/LtJ background, 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 Gnat2^cpfl3 allele was backcrossed from ALS/LtJ onto C57BL/6J in the laboratory of Dr. Bo Chang at The Jackson Laboratory and subsequently bred to homozygosity. 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.

Genetics

Gnat2^cpfl3

Allele Symbol: Gnat2^cpfl3

Allele Name	cone photoreceptor function loss 3
Allele Type	Spontaneous
Allele Synonym(s)	no cones
Gene Symbol and Name	Gnat2, guanine nucleotide binding protein, alpha transducing 2
Gene Synonym(s)
Strain of Origin	various
Chromosome	3
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) The allele has also been reported in NMRI and CD1 (Lluis Montoliu, J:212307)
Molecular Note	A single nucleotide substitution of G to A at coding nucleotide 598 in exon 6. This mutation converts codon 200 from aspartic acid to asparagine (p.D200N).

Disease/Phenotype

Disease Terms

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

Research Areas By Phenotype

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

Genotype: Gnat2^cpfl3 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: Gnat2^cpfl3/Gnat2^cpfl3
ALS/LtJ

cardiovascular system phenotype

abnormal retinal vasculature morphology
- dilated retinal veins and slightly constricted arterioles are observed in 8 month old mice

nervous system phenotype

abnormal photoreceptor outer segment morphology
- outer segments are vacuolated by 27 weeks of age

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

vision/eye phenotype

abnormal cone electrophysiology
- photopic responses are 25% of normal by 4 weeks of age and completely diminished by 9 months
- scotopic (rod) responses show some diminution, but are near normal by 9 months of age

abnormal photoreceptor outer segment morphology
- outer segments are vacuolated by 27 weeks of age

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

abnormal retinal vasculature morphology
- dilated retinal veins and slightly constricted arterioles are observed in 8 month old mice

References

Additional - Gnat2^cpfl3 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Sanger sequencing:Gnat2
- Genotyping resources and troubleshooting
Citation
When using the B6.ALS-Gnat2^cpfl3/Boc mouse strain in a publication, please cite the originating article(s) and include JAX stock #006795 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

MGL277 (Low)

Pricing & Availability

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Genetic overview

Research Applications

Base Price

Detailed Description

Development

Gnat2cpfl3

Allele Symbol: Gnat2cpfl3

Disease Terms

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).

Research Areas By Phenotype

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

Genotype: Gnat2cpfl3 related

Mammalian Phenotype Terms by Genotype

Genotype: Gnat2cpfl3/Gnat2cpfl3ALS/LtJ

cardiovascular system phenotype

nervous system phenotype

vision/eye phenotype

References

Additional - Gnat2cpfl3 related

Genotyping Protocols

Citation

Animal Health Reports

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Gnat2^cpfl3

Allele Symbol: Gnat2^cpfl3

Genotype: Gnat2^cpfl3 related

Genotype: Gnat2^cpfl3/Gnat2^cpfl3
ALS/LtJ

Additional - Gnat2^cpfl3 related