Description

Strain Information

Former Names B6.C3Ga-rd6    (Changed: 15-DEC-04 ) small spot    (Changed: 15-DEC-04 ) Type Congenic; Mutant Strain; Additional information on Genetically Engineered Mutant Mice. Mating System Homozygote x Homozygote         (Female x Male) Species laboratory mouse Background Strain C57BL/6J Donor Strain C3fB/Ga-Cas1b Generation NE10 (21-NOV-03)

Appearance
black, retinal spots
Related Genotype: a/a, Mfrp^rd6/Mfrp^rd6

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 Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

Fundus Albipunctatus - Models with phenotypic similarity to human disease where etiologies are distinct.2

2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Mfrp^rd6/Mfrp^rd6

        B6.C3-Mfrp^rd6

• vision/eye phenotype
• abnormal retina morphology (MGI Ref ID J:64087)
  • subretinal spots oriented in a regular pattern across the retina are apparent by ophthalmoscopic examination at approximately 8-10 weeks of age
• retinal degeneration (MGI Ref ID J:64087)
  • age of onset is approximately 7 months
• retinal photoreceptor degeneration (MGI Ref ID J:64087)
  • progressive degeneration of rods and cones as detected by electroretinogram; age of onset is approximately 1 month
• nervous system phenotype
• retinal photoreceptor degeneration (MGI Ref ID J:64087)
  • progressive degeneration of rods and cones as detected by electroretinogram; age of onset is approximately 1 month

View Research Applications

Research Applications

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

Mfrp^rd6 related

Research Tools
Sensorineural Research (retinal spots)

Sensorineural Research
Retinal Degeneration (retinal spots)

Genes & Alleles

Gene & Allele Information

Allele Symbol		Mfrprd6
Allele Name		retinal degeneration 6
Allele Type		Spontaneous
Strain of Origin		C3HfB6/Ga-Catb
Gene Symbol and Name		Mfrp, membrane-type frizzled-related protein
Chromosome		9
Gene Common Name(s)		C1QTNF5; FLJ30570; NNO2; rd6; retinal degeneration 6;
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. [MGI Ref ID J:78123]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

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):517-25. [PubMed: 11853768]  [MGI Ref ID 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):1113-6. [PubMed: 642030]  [MGI Ref ID J:5971]

Feinstein RN; Howard JB; Braun JT; Seaholm JE. 1966. Acatalasemic and hypocatalasemic mouse mutants. Genetics 53(5):923-33. [PubMed: 5929246]  [MGI Ref ID 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):3149-57. [PubMed: 10967077]  [MGI Ref ID 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):1879-86. [PubMed: 12140190]  [MGI Ref ID J:78123]

Mfrp^rd6 related

Chang B; Hawes NL; Hurd RE; Davisson MT; Nusinowitz S; Heckenlively JR. 2002. Retinal degeneration mutants in the mouse. Vision Res 42(4):517-25. [PubMed: 11853768]  [MGI Ref ID J:75095]

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):3149-57. [PubMed: 10967077]  [MGI Ref ID 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):1879-86. [PubMed: 12140190]  [MGI Ref ID J:78123]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           A1

Colony Maintenance

Mating System	Homozygote x Homozygote         (Female x Male)

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.

Supply Notes

Usually shipped between four and eight weeks of age. This strain is included in the Eye Mutant Resource within the Mouse Mutant Resource collection.

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

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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.

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