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- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
- Pricing & purchasing
- Terms of use
Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Type Chromosome Aberration; Robertsonian; Translocation; Additional information on Mice with Chromosomal Aberrations. Type Inbred Strain; Additional information on Inbred Strains. Visit our online Nomenclature tutorial. Species laboratory mouse and M. m. domesticus Generation F32
Generation DefinitionsAppearance
dark agouti, retinal degeneration
Related Genotype: A/A Mc1rE-tob/Mc1rE-tob rd3/rd3Important Note
This strain is homozygous for retinal degeneration 3, rd3.
Control Information
| Control | ||
|---|---|---|
| None Available | ||
| Considerations for Choosing Controls | ||
Related Strains
Combined Robertsonian Chromosome Stocks
002040 RB126Bnr/EiJ 002041 RB16Bnr/EiJ 001000 RBD/DnJ 000726 RBF/DnJ 000896 STOCK Rb(2.18)6Rma Rb(12.14)8Rma/J 000864 STOCK Rb(2.8)2Lub Rb(7.18)9Lub/J 000929 TIRANO/EiJ 001746 WMP/PasDnJ 001392 ZALENDE/EiJ View Combined Robertsonian Chromosome Stocks (9 strains)
001000 RBD/DnJ 000726 RBF/DnJ 000729 STOCK Rb(11.13)4Bnr/J
008627 B6.Cg-Rd3rd3/Boc 000726 RBF/DnJ 000852 STOCK In(5)30Rk/J 000729 STOCK Rb(11.13)4Bnr/J
003625 B6.C-H2-Ab1bm12/KhEg-Mc1re-J/J 001434 C3HeB/FeJ x STX/Le-Mc1rE-so Gli3Xt-J Zeb1Tw/J 001533 C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J 000060 C57BL/6J-Mc1re/J
001000 RBD/DnJ 003304 STOCK Rb(16.17)7Bnr-Myo15sh2-2J/J 000929 TIRANO/EiJ 001392 ZALENDE/EiJ
000929 TIRANO/EiJ
001000 RBD/DnJ
Phenotype
Phenotype Information
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Albinism, Oculocutaneous, Type II; OCA2 (MC1R)
Kelley-Seegmiller Syndrome (HPRT1)
Leber Congenital Amaurosis 12; LCA12 (RD3)
Lesch-Nyhan Syndrome; LNS (HPRT1)
Melanoma, Cutaneous Malignant, Susceptibility to, 5; CMM5 (MC1R)
This mouse can be used to support research in many areas including:
Mc1rE-tob relatedSensorineural Research
Retinal Degeneration
rd3
Rd3rd3 relatedEndocrine Deficiency Research
Skin Defects
Sensorineural Research
Retinal Degeneration
Homozygous for rd3
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Hprttm7Detl | ||
|---|---|---|---|
| Allele Name | targeted mutation 7, Peter J Detloff | ||
| Allele Type | Targeted (knock-in) | ||
| Common Name(s) | hprtNosignalQ38; | ||
| Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> | ||
| ES Cell Line Name | R1 | ||
| ES Cell Line Strain | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> | ||
| Promoter | Hprt, hypoxanthine guanine phosphoribosyl transferase, mouse, laboratory | ||
| Molecular Note | Exon 3 was disrupted by the insertion of a cassette containing a myc tag, and 38 CAG repeats encoding 38 glutamine residues. Neither a nuclear localization signal (NLS) nor a nuclear export signal (NES) was included in the targeting construct. [MGI Ref ID J:84451] | ||
| Allele Symbol | Mc1rE-tob | ||
| Allele Name | tobacco darkening | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Etob; | ||
| Strain of Origin | M. m. domesticus poschiavinus | ||
| Gene Symbol and Name | Mc1r, melanocortin 1 receptor | ||
| Chromosome | 8 | ||
| Gene Common Name(s) | CMM5; MSH-R; Mshra; SHEP2; Tob; e; extension recessive yellow; extension, recessive yellow; melanocyte hormone receptor alpha; tobacco darkening; | ||
| General Note | Mc1rE-tob, tobacco darkening, semidominant. Formerly Etob. Mice of the species Mus poschiavinus, the tobacco mouse, are homozygous for this allele. They are black in color until the eighth week, after which the flanks become agouti.In descendants from crosses with Mus musculus, Mc1rE-tob/+ heterozygotes show an agouti pattern with darkened back. Mc1rE-tob/Mc1re a/a mice are black (J:22593, J:13641). The Mc1rE-tob allele carries two point mutations that result in a receptor that is overactive, though responsive to hormone regulation, and produces a greater activation of the MC1R effector, G protein-coupled adenylyl cyclase, than does the wild-type allele (J:4636). | ||
| Molecular Note | Two independent PCR assays found a C-to-T mutation at position 206 predicted to result in a serine to leucine alteration in codon 69. A second nucleotide C-to-T change results in a silent mutation at position 166. [MGI Ref ID J:4636] | ||
| Allele Symbol | Rd3rd3 | ||
| Allele Name | retinal degeneration 3 | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | RBF/DnJ | ||
| Gene Symbol and Name | Rd3, retinal degeneration 3 | ||
| Chromosome | 1 | ||
| Gene Common Name(s) | 3322402L07Rik; C1orf36; LCA12; RIKEN cDNA 3322402L07 gene; rd-3; | ||
| General Note | This mutation causes retinal degeneration. In homozygous mutant mice, development proceeds normally through the second postnatal week. Thereafter, photoreceptor and outer nuclear layers begin to degenerate, and by 8 weeks, no photoreceptor cells remain. Changes in electroretinograms parallel the histologic changes. As of 1998 this is the only type of retinal degeneration reported in mice in which the photoreceptors are initially normal (J:4367). | ||
| Molecular Note | A C to T substitution in Rd3 results in a stop codon after residue 106. The truncated protein is initially expressed in in vitro assays but is degraded. [MGI Ref ID J:122439] | ||
| Gene Symbol and Name | Rb(5.15)3Bnr, Robertsonian translocation, Chr 5 and 15, Universitat Bonn/Rhein 3 | ||
| Chromosome | 15 | ||
| Gene Common Name(s) | Rb3Bnr; | ||
| Gene Symbol and Name | Rb(2.8)2Lub, Robertsonian translocation, Chr 2 and 8, Lubeck 2 | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | Rb2Lub; | ||
| Gene Symbol and Name | Rb(16.17)7Bnr, Robertsonian translocation, Chr 16 and 17, Universitat Bonn/Rhein 7 | ||
| Chromosome | 16 | ||
| Gene Common Name(s) | Rb7Bnr; | ||
References
References provided by MGI
Additional References
Chang B; Heckenlively JR; Hawes NL; Roderick TH. 1993. New mouse primary retinal degeneration (rd-3). Genomics 16(1):45-9. [PubMed: 8486383] [MGI Ref ID J:4367]
Hprttm7Detl relatedMc1rE-tob relatedJackson WS; Tallaksen-Greene SJ; Albin RL; Detloff PJ. 2003. Nucleocytoplasmic transport signals affect the age at onset of abnormalities in knock-in mice expressing polyglutamine within an ectopic protein context. Hum Mol Genet 12(13):1621-9. [PubMed: 12812988] [MGI Ref ID J:84451]
Rd3rd3 relatedGropp A; Tettenborn U; Lehmann E von. 1969. [Chromosome studies in the tobacco mouse (M. poschiavinus) and in tobacco mouse hybrids] Experientia 25(8):875-6. [PubMed: 5348563] [MGI Ref ID J:24452]
Gropp A; Tettenborn U; Lehmann E von. 1970. [Chromosome variations on the Robertson type in the tobacco mouse, M. Poschiavinus, and its hybrids with the laboratory mouse] Cytogenetics 9(1):9-23. [PubMed: 5412048] [MGI Ref ID J:23097]
Robbins LS; Nadeau JH; Johnson KR; Kelly MA; Roselli-Rehfuss L; Baack E; Mountjoy KG; Cone RD. 1993. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 72(6):827-34. [PubMed: 8458079] [MGI Ref ID J:4636]
Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York. [MGI Ref ID J:78801]
von Lehmann E. 1973. Coat colour genetics of the tobacco-mouse (Mus poschiavinus Fatio) Mouse News Lett 48:23. [MGI Ref ID J:22593]
von Lehmann E. 1974. Weitere Mitteilungen zu: coat colour genetics of the tobacco-mouse (Mus poschiavinus Fatio). Mouse News Lett 50:26-7. [MGI Ref ID J:13641]
Azadi S; Molday LL; Molday RS. 2010. RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells. Proc Natl Acad Sci U S A 107(49):21158-63. [PubMed: 21078983] [MGI Ref ID J:167162]
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]
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; Heckenlively JR; Hawes NL; Roderick TH. 1993. New mouse primary retinal degeneration (rd-3). Genomics 16(1):45-9. [PubMed: 8486383] [MGI Ref ID J:4367]
Danciger M; Ogando D; Yang H; Matthes MT; Yu N; Ahern K; Yasumura D; Williams RW; Lavail MM. 2008. Genetic modifiers of retinal degeneration in the rd3 mouse. Invest Ophthalmol Vis Sci 49(7):2863-9. [PubMed: 18344445] [MGI Ref ID J:136923]
Friedman JS; Chang B; Kannabiran C; Chakarova C; Singh HP; Jalali S; Hawes NL; Branham K; Othman M; Filippova E; Thompson DA; Webster AR; Andreasson S; Jacobson SG; Bhattacharya SS; Heckenlively JR; Swaroop A. 2006. Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am J Hum Genet 79(6):1059-70. [PubMed: 17186464] [MGI Ref ID J:122439]
Hawes NL; Smith RS; Chang B; Davisson M; Heckenlively JR; John SW. 1999. Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes. Mol Vis 5:22. [PubMed: 10493779] [MGI Ref ID J:59481]
Heckenlively JR; Chang B; Erway LC; Peng C; Hawes NL; Hageman GS; Roderick TH. 1995. Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15. Proc Natl Acad Sci U S A 92(24):11100-4. [PubMed: 7479945] [MGI Ref ID J:121993]
Pieke-Dahl S; Ohlemiller KK; McGee J; Walsh EJ; Kimberling WJ. 1997. Hearing loss in the RBF/DnJ mouse, a proposed animal model of Usher syndrome type IIa. Hear Res 112(1-2):1-12. [PubMed: 9367224] [MGI Ref ID J:44148]
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
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $3000.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
| Pricing for International shipping destinations |
|
Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $3900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
General Supply Notes
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| None Available | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
Important Note
This strain is homozygous for retinal degeneration 3, rd3.
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.
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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
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For Licensing and Use Restrictions view the link(s) below:
- Strain from the Cytogenetic Models Resource. First time use requires submission of a Request Form, please inquire.
Contact information
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