Overview

Male and female mice homozygous for rd6develop a slowly progressive retinal degeneration affecting both rod and cone cells beginning at 3-4 weeks of age, soon after the retina develops. This mutant has been suggested as a model for the human flecked retinal disorder retinitis punctata albicans (RPA), which causes progressive visual loss similar to that characteristic of retinitis pigmentosa.

Genetic overview

Genetic Background	Generation
000664 C57BL/6J	NE10F?+41 (2020-04-23 00:00:00)

Mfrp^rd6

Allele Type	Gene Symbol	Gene Name
Spontaneous	Mfrp	membrane frizzled-related protein

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Research Applications

Sensorineural Research
Research Tools

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Base Price

Starting at:

$136.70 Domestic price for female

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Details

Detailed Description

Male and female mice homozygous for rd6develop a slowly progressive retinal degeneration affecting both rod and cone cells beginning at 3-4 weeks of age, soon after the retina develops. Ophthalmoscopic examination reveals small, evenly distributed white spots throughout the retina from the time the mice are 8 weeks old. The spots remain clearly visible until about 7 months, when clinical signs of retinal degeneration first become evident, and become less easily distinguishable as degeneration progresses. Retinal blood vessels appear pale and attenuated by 7 months and are undetectable by 15 months, when the fundus appears mottled, lightly pigmented and granular. Aberrations of the photoreceptor layer are histologically evident at 3-4 weeks; by one year, only one to three cell layers (of the normal 10-12) remain. The time and distribution of the ophthalmoscopically detectable retinal spots correlate with histologic observation of putative phagocytic cells in the subretinal space. This mutant has been suggested as a model for the human flecked retinal disorder retinitis punctata albicans (RPA), which causes progressive visual loss similar to that characteristic of retinitis pigmentosa. (Hawes et al. 2000)

Development

The Cat^b (catalase 1 null) mutation was identified in a screen for low catalase activity by Feinstein et al. (1964, 1966) at Argonne National Laboratory of offpring of (C3H x 101) male mice irradiated at Oak Ridge National Laboratory (600 R in fractionated exposures), then crossed to females of the Oak Ridge "multiple recessive testing stock" derived from a cross of NB mice (aabbc^ch p/c^ch p d se/d se) and mice of a non-inbred stock homozygous for three of the same recessive mutations, as well as for s, from which mice homozygous for all seven mutations were bred and maintained afterward by random breeding (Russell 1951). Putative heterozygotes for catalase deficiency were crossed to normal mice (not clearly identified, but presumably unirradiated progeny of (101 x C3H)F1 X ORNL testing stock), and offspring exhibiting low catalase activity were backcrossed to the heterozygous parent (Feinstein et al. 1966).Cat^b was subsequently transferred by backcrossing for eight generations onto C3H/HeAnl, a line carrying mouse mammary tumor virus (MMTV) and another line (C3Hf) free of the virus (Feinstein et al. 1978). The Jackson Laboratory received C3HfB/Ga-Cat^b, now C3Ga.Cg-Cat^b/J (stock #001906), from Allen H. Gates, then at the University of Rochester, in 1982.

Although all C3H strains carry the rd1 (retinal degeneration 1) mutation at Pde6b, the gene encoding the beta subunit of phosphodiesterase 1, retinas of these mice exhibited a peculiar, granular appearance distinct from the usual Pde6b^rd1 phenotype. F2 progeny of a cross of C3HfB/Ga-Cat^b and C57BL/6J mice exhibited three retinal phenotypes: 1) normal; 2) patches of pigment deposition and large, diffuse pigmented regions typical Pde6b^rd1 homozygotes; and 3) small, discrete, light-colored dots throughout the fundus. Mice exhibiting the last phenotype were intercrossed among themselves to produce a stock homozygous for Mfrp^rd6 and for the wild-type allele at Pde6b. During this process, a separate mutation with a distinct map position was identified and characterized as Crb1^rd8. STOCK Crb1^rd8 Mfrp^rd6/J (stock #004299) is homozygous for both Mfrp^rd6 and Crb1^rd8 on this mixed genetic background that derived in part from C57BL/6J, C3H, 101, and a linkage testing stock derived from non-inbred stocks. In order to isolate Mfrp^rd6 and Crb1^rd8 this strain was backcrossed to C57BL/6J, and selection for either Mfrp^rd6 or Crb1^rd8 yielded B6.C3Ga-Mfrp^rd6/J (stock #003684) and STOCK Crb1^rd8/J (stock #003392) respectively.

Control Suggestions

000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Genetics

Mfrp^rd6

Allele Symbol: Mfrp^rd6

Allele Name	retinal degeneration 6
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	Mfrp, membrane frizzled-related protein
Gene Synonym(s)
Strain of Origin	C3fBAnl.Cg-Cat^b/AnlJ
Chromosome	9
Molecular Note	The rd6 mutation was identified as a 4 bp deletion in the splice donor sequence of intron 4 in the Mfrp gene. The mutation results in the skipping of exon 4. While the mutation does not cause a frameshift, 58 amino acids are deleted from the protein.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

fundus albipunctatus

Research Areas By Phenotype

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

Genotype: Mfrp^rd6 related

Sensorineural Research
- Retinal Degeneration
  - retinal spots
Research Tools
- Sensorineural Research
  - retinal spots

Mammalian Phenotype Terms by Genotype

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

Genotype: Mfrp^rd6/Mfrp^rd6
involves: C3HfB6/Anl

mammalian phenotype

vision/eye phenotype
- Normal - retinal pigment epithelium phagocytosis is normal

pigmentation phenotype

abnormal retinal pigment epithelium morphology
- mice exhibit an increase in the number of apical microvilli compared with wild-type mice

vision/eye phenotype

abnormal retinal pigment epithelium morphology
- mice exhibit an increase in the number of apical microvilli compared with wild-type mice

The following phenotype relates to a compound genotype created using this strain

Genotype: Mfrp^rd6/Mfrp^rd6
B6.C3-Mfrp

nervous system phenotype

retinal photoreceptor degeneration
- progressive degeneration of rods and cones as detected by electroretinogram; age of onset is approximately 1 month

vision/eye phenotype

retinal degeneration
- age of onset is approximately 7 months

retinal photoreceptor degeneration
- progressive degeneration of rods and cones as detected by electroretinogram; age of onset is approximately 1 month

retinal spots
- subretinal spots oriented in a regular pattern across the retina are apparent by ophthalmoscopic examination at approximately 8-10 weeks of age

References

Additional References

Chang B; Hawes NL; Hurd RE; Davisson MT; Nusinowitz S; Heckenlively JR. 2002. Retinal degeneration mutants in the mouse. Vision Res 42(4):517-25PubMed: 11853768 MGI: J:75095
Feinstein RN; Fry RJ; Staffeldt EF. 1978. Carcinogenic and antitumor effects of aminotriazole on acatalasemic and normal catalase mice. J Natl Cancer Inst 60(5):1113-6PubMed: 642030 MGI: J:5971
Feinstein RN; Howard JB; Braun JT; Seaholm JE. 1966. Acatalasemic and hypocatalasemic mouse mutants. Genetics 53(5):923-33PubMed: 5929246 MGI: J:5015
Hawes NL; Chang B; Hageman GS; Nusinowitz S; Nishina PM; Schneider BS; Smith RS; Roderick TH; Davisson MT; Heckenlively JR. 2000. Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens. Invest Ophthalmol Vis Sci 41(10):3149-57PubMed: 10967077 MGI: J:64087
Kameya S; Hawes NL; Chang B; Heckenlively JR; Naggert JK; Nishina PM. 2002. Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6. Hum Mol Genet 11(16):1879-86PubMed: 12140190 MGI: J:78123

Additional - Mfrp^rd6 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Sanger sequencing:Mfrp
- Probe:Mfrp Probe
- Genotyping resources and troubleshooting
Mating System
- Homozygote x Homozygote
Appearance
- black, retinal spots
  Related Genotype: a/a, Mfrp^rd6/Mfrp^rd6
Citation
When using the B6.C3Ga-Mfrp^rd6/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #003684 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

MGL277 (Low)

Pricing & Availability

Availability Varies

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Homozygous for Mfrp<rd6>, 1 pair minimum

Related Products and Services

Frozen Mouse Embryo	B6.C3Ga-Mfrp<rd6>/J Frozen Embryos	$2595.00
Frozen Mouse Embryo	B6.C3Ga-Mfrp<rd6>/J Frozen Embryos	$2595.00
Frozen Mouse Embryo	B6.C3Ga-Mfrp<rd6>/J Frozen Embryos	$3373.50
Frozen Mouse Embryo	B6.C3Ga-Mfrp<rd6>/J Frozen Embryos	$3373.50

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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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Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Mfrprd6

Allele Symbol: Mfrprd6

Disease Terms

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

Research Areas By Phenotype

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

Genotype: Mfrprd6 related

Mammalian Phenotype Terms by Genotype

Genotype: Mfrprd6/Mfrprd6involves: C3HfB6/Anl

mammalian phenotype

pigmentation phenotype

vision/eye phenotype

Genotype: Mfrprd6/Mfrprd6B6.C3-Mfrp

nervous system phenotype

vision/eye phenotype

References

Additional References

Additional - Mfrprd6 related

Genotyping Protocols

Mating System

Appearance

Citation

Animal Health Reports

Live Mouse

Cryorecovery - Pricing

Related Products and Services

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

Mfrp^rd6

Allele Symbol: Mfrp^rd6

Genotype: Mfrp^rd6 related

Genotype: Mfrp^rd6/Mfrp^rd6
involves: C3HfB6/Anl

Genotype: Mfrp^rd6/Mfrp^rd6
B6.C3-Mfrp

Additional - Mfrp^rd6 related