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- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
- Pricing & purchasing
- Terms of use
Description
Strain Information
Former Names BXD24b/TyJ (Changed: 29-DEC-09 ) BXD-24/TyJ (Changed: 15-DEC-04 ) BXD24/TyJ (Changed: 15-DEC-04 ) Type Recombinant Inbred (RI); Additional information on Recombinant Inbred Mice. Visit our online Nomenclature tutorial. Mating System Sibling x Sibling (Female x Male) 01-MAR-06 Species laboratory mouse RI progenitor C57BL/6J DBA/2J H2 Haplotype d Generation F140+33 (15-SEP-12)
Generation DefinitionsAppearance
chocolate brown
Related Genotype: a/a Tyrp1b/Tyrp1b Myo5a+/Myo5a+Description
The BXD RI strains are used to study the genetics of behavioral phenotypes including alcohol and drug addiction, stress, and locomotor activity. The BXD set of RI strains also are used in the genetic analysis of numerous complex or potentially complex physiologic phenotypes including differences in organ weight and bone mineral density. The strain distribution pattern (SDP) for BXD RI strains is available through the Mouse Genome Informatics Recombinant Inbred Strain Distribution Patterns.In 2004, a spontaneous mutation, rd16, was discovered in this recombinant inbred line. Mice exhibit complete degeneration of retinal photoreceptors (Seecharan et al. 2003) resulting in blindness.
Development
The BXD set of RI strains was developed in the laboratory of Benjamin Taylor and was transferred to The Jackson Laboratory from Dr. Taylor's research colony upon his retirement. Of 42 BXD RI strains originally derived from the C57BL/6J (Stock No. 000664) and DBA/2J (Stock No. 000671), a number have become extinct over the years. The other BXD RI strains now being distributed are listed under "Related Recombinant Inbred Strains."In 2004, a spontaneous mutation, rd16, was discovered in this strain. At the time, the molecular mutation was not known and the strain was renamed BXD24b to distinguish it from the cryorecovered BXD24a strain (stock# 005243). In 2009, the strain was renamed to reflect the discovery of the genetic basis of the mutation. The non-mutant form of this recombinant inbred subline is available as stock #005243.
Related Strains
BXD Strains
View BXD Strains (80 strains)
012283 B6.Cg-Cep290rd16/Boc
018204 C57BL/6J-Cep290b2b1454Clo/J 013702 STOCK Cep290tm1.1Jgg/J 013701 STOCK Cep290tm1Jgg/J
Phenotype
Phenotype Information
Mouse Phenome Database
Wellcome Trust Centre for Human Genetics: Mouse Recombinant Inbred Line (RIL) Genotype Data for BXD RI Line
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Bardet-Biedl Syndrome; BBS (CEP290)
Joubert Syndrome 5; JBTS5 (CEP290)
Leber Congenital Amaurosis 10; LCA10 (CEP290)
Meckel Syndrome, Type 4; MKS4 (CEP290)
Senior-Loken Syndrome 6; SLSN6 (CEP290)
assigned by genotype
Cep290rd16/Cep290rd16
BXD24/TyJ-Cep290rd16/J
- vision/eye phenotype
- abnormal cone electrophysiology
- electoretinograms indicate considerable deterioration of function in homozygotes compared to wild-type by 18 days of age; at 4 weeks of age, there is essentially no response (MGI Ref ID J:108467)
- abnormal eye pigment epithelium morphology
- large pigment patches appear at 2 months of age (MGI Ref ID J:108467)
- abnormal retina morphology
- retinae of homozygotes develops white retinal vessels at 1 month of age (MGI Ref ID J:108467)
- photoreceptor outer segment degeneration
- degeneration of outer segments in homozygotes is detected as early as 19 days of age and progresses as mice age (MGI Ref ID J:108467)
- retinal degeneration
- detectable at 1 and 2 months of age (MGI Ref ID J:108467)
- thin retinal outer nuclear layer
- reduction in thickness of outer nuclear layer in homozygotes is detected as early as 19 days of age and progresses as mice age (MGI Ref ID J:108467)
- abnormal rod electrophysiology
- electoretinograms indicate considerable deterioration of function in homozygotes compared to wild-type by 18 days of age; at 4 weeks of age, there is essentially no response (MGI Ref ID J:108467)
- pigmentation phenotype
- abnormal eye pigment epithelium morphology
- large pigment patches appear at 2 months of age (MGI Ref ID J:108467)
- nervous system phenotype
- photoreceptor outer segment degeneration
- degeneration of outer segments in homozygotes is detected as early as 19 days of age and progresses as mice age (MGI Ref ID J:108467)
This mouse can be used to support research in many areas including:
Cep290rd16 relatedNeurobiology Research
Behavioral and Learning Defects
genes regulating preferences to alcohol
Research Tools
Genetics Research
Gene Mapping
Gene Mapping: Tools for QTL Mapping, Segregation and Linkage Analysis
Sensorineural Research
Olfactory Defects
Retinal Degeneration
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Cep290rd16 | ||
|---|---|---|---|
| Allele Name | retinal degeneration 16 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | rd16; | ||
| Strain of Origin | BXD24/TyJ | ||
| Gene Symbol and Name | Cep290, centrosomal protein 290 | ||
| Chromosome | 10 | ||
| Gene Common Name(s) | 3H11Ag; BBS14; BC004690; CT87; JBTS5; LCA10; MGC:7859; MKS4; Mutant line 1454; Mutant line 1752; NPHP6; POC3; RGD1311640; SLSN6; b2b1454Clo; b2b1752Clo; cDNA sequence BC004690; rd16; | ||
| Molecular Note | The mutation is a deletion of exons 35 to 39 of the gene. The expressed transcript contains an in-frame deletion of 897 bp, corresponding to amino acids 1599-1897 of the encoded protein. The truncated protein is detectable in retinal extracts derived from homozygous mice. [MGI Ref ID J:108467] | ||
References
References provided by MGI
Selected Reference(s)
Alexander RC; Wright R; Freed W. 1996. Quantitative trait loci contributing to phencyclidine-induced and amphetamine-induced locomotor behavior in inbred mice. Neuropsychopharmacology 15(5):484-90. [PubMed: 8914121] [MGI Ref ID J:36714]
Belknap JK; Crabbe JC; Plomin R; McClearn GE; Sampson KE; O'Toole LA; Gora-Maslak G. 1992. Single-locus control of saccharin intake in BXD/Ty recombinant inbred (RI) mice: some methodological implications for RI strain analysis. Behav Genet 22(1):81-100. [PubMed: 1590732] [MGI Ref ID J:1952]
Belknap JK; Metten P; Helms ML; O'Toole LA; Angeli-Gade S; Crabbe JC; Phillips TJ. 1993. Quantitative trait loci (QTL) applications to substances of abuse: physical dependence studies with nitrous oxide and ethanol in BXD mice. Behav Genet 23(2):213-22. [PubMed: 8512534] [MGI Ref ID J:11831]
Belknap JK; Mogil JS; Helms ML; Richards SP; O'Toole LA; Bergeson SE; Buck KJ. 1995. Localization to chromosome 10 of a locus influencing morphine analgesia in crosses derived from C57BL/6 and DBA/2 strains. Life Sci 57(10):PL117-24. [PubMed: 7643715] [MGI Ref ID J:28263]
Belknap JK; Phillips TJ; O'Toole LA. 1992. Quantitative trait loci associated with brain weight in the BXD/Ty recombinant inbred mouse strains. Brain Res Bull 29(3-4):337-44. [PubMed: 1393606] [MGI Ref ID J:2827]
Browman KE; Crabbe JC. 2000. Quantitative trait loci affecting ethanol sensitivity in BXD recombinant inbred mice. Alcohol Clin Exp Res 24(1):17-23. [PubMed: 10656187] [MGI Ref ID J:66463]
Cabib S; Oliverio A; Ventura R; Lucchese F; Puglisi-Allegra S. 1997. Brain dopamine receptor plasticity: testing a diathesis-stress hypothesis in an animal model. Psychopharmacology (Berl) 132(2):153-60. [PubMed: 9266612] [MGI Ref ID J:68169]
Chang B; Khanna H; Hawes N; Jimeno D; He S; Lillo C; Parapuram SK; Cheng H; Scott A; Hurd RE; Sayer JA; Otto EA; Attanasio M; O'toole JF; Jin G; Shou C; Hildebrandt F; Williams DS; Heckenlively JR; Swaroop A. 2006. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet 15(11):1847-57. [PubMed: 16632484] [MGI Ref ID J:108467]
Crabbe JC. 1998. Provisional mapping of quantitative trait loci for chronic ethanol withdrawal severity in BXD recombinant inbred mice. J Pharmacol Exp Ther 286(1):263-71. [PubMed: 9655868] [MGI Ref ID J:49185]
Crabbe JC; Belknap JK. 1993. Behavior genetic analyses of drug withdrawal. Alcohol Alcohol Suppl 2:477-82. [PubMed: 7748342] [MGI Ref ID J:109922]
Crabbe JC; Belknap JK; Mitchell SR; Crawshaw LI. 1994. Quantitative trait loci mapping of genes that influence the sensitivity and tolerance to ethanol-induced hypothermia in BXD recombinant inbred mice. J Pharmacol Exp Ther 269(1):184-92. [PubMed: 8169823] [MGI Ref ID J:18566]
Cunningham CL. 1995. Localization of genes influencing ethanol-induced conditioned place preference and locomotor activity in BXD recombinant inbred mice. Psychopharmacology (Berl) 120(1):28-41. [PubMed: 7480533] [MGI Ref ID J:28135]
Gora-Maslak G; McClearn GE; Crabbe JC; Phillips TJ; Belknap JK; Plomin R. 1991. Use of recombinant inbred strains to identify quantitative trait loci in psychopharmacology. Psychopharmacology (Berl) 104(4):413-24. [PubMed: 1780413] [MGI Ref ID J:39738]
Grisel JE; Belknap JK; O'Toole LA; Helms ML; Wenger CD; Crabbe JC. 1997. Quantitative trait loci affecting methamphetamine responses in BXD recombinant inbred mouse strains. J Neurosci 17(2):745-54. [PubMed: 8987796] [MGI Ref ID J:37546]
Hofstetter JR; Mayeda AR; Possidente B; Nurnberger JI. 1995. Quantitative trait loci (QTL) for circadian rhythms of locomotor activity in mice. Behav Genet 25(6):545-56. [PubMed: 8540893] [MGI Ref ID J:29803]
Hofstetter JR; Possidente B; Mayeda AR. 1999. Provisional QTL for circadian period of wheel running in laboratory mice: quantitative genetics of period in RI mice. Chronobiol Int 16(3):269-79. [PubMed: 10373097] [MGI Ref ID J:55774]
Klein RF; Mitchell SR; Phillips TJ; Belknap JK; Orwoll ES. 1998. Quantitative trait loci affecting peak bone mineral density in mice. J Bone Miner Res 13(11):1648-56. [PubMed: 9797472] [MGI Ref ID J:50828]
Luetteke NC; Phillips HK; Qiu TH; Copeland NG; Earp HS; Jenkins NA; Lee DC. 1994. The mouse waved-2 phenotype results from a point mutation in the EGF receptor tyrosine kinase. Genes Dev 8(4):399-413. [PubMed: 8125255] [MGI Ref ID J:16986]
McEwen DP; Koenekoop RK; Khanna H; Jenkins PM; Lopez I; Swaroop A; Martens JR. 2007. Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. Proc Natl Acad Sci U S A 104(40):15917-22. [PubMed: 17898177] [MGI Ref ID J:125553]
Miner LL; Marley RJ. 1995. Chromosomal mapping of loci influencing sensitivity to cocaine-induced seizures in BXD recombinant inbred strains of mice. Psychopharmacology (Berl) 117(1):62-6. [PubMed: 7724703] [MGI Ref ID J:23071]
Mogil JS; Richards SP; O'Toole LA; Helms ML; Mitchell SR; Kest B; Belknap JK. 1997. Identification of a sex-specific quantitative trait locus mediating nonopioid stress-induced analgesia in female mice. J Neurosci 17(20):7995-8002. [PubMed: 9315917] [MGI Ref ID J:43467]
Peleg L; Nesbitt MN. 1984. Genetic control of thymus size in inbred mice. J Hered 75(2):126-30. [PubMed: 6715864] [MGI Ref ID J:7417]
Phillips TJ; Crabbe JC; Metten P; Belknap JK. 1994. Localization of genes affecting alcohol drinking in mice. Alcohol Clin Exp Res 18(4):931-41. [PubMed: 7978106] [MGI Ref ID J:20482]
Phillips TJ; Huson M; Gwiazdon C; Burkhart-Kasch S; Shen EH. 1995. Effects of acute and repeated ethanol exposures on the locomotor activity of BXD recombinant inbred mice. Alcohol Clin Exp Res 19(2):269-78. [PubMed: 7625557] [MGI Ref ID J:25695]
Phillips TJ; Huson MG; McKinnon CS. 1998. Localization of genes mediating acute and sensitized locomotor responses to cocaine in BXD/Ty recombinant inbred mice. J Neurosci 18(8):3023-34. [PubMed: 9526019] [MGI Ref ID J:46922]
Plomin R; McClearn GE; Gora-Maslak G; Neiderhiser JM. 1991. Use of recombinant inbred strains to detect quantitative trait loci associated with behavior. Behav Genet 21(2):99-116. [PubMed: 2049054] [MGI Ref ID J:11248]
Quock RM; Mueller JL; Vaughn LK; Belknap JK. 1996. Nitrous oxide antinociception in BXD recombinant inbred mouse strains and identification of quantitative trait loci. Brain Res 725(1):23-9. [PubMed: 8828582] [MGI Ref ID J:34065]
Roberts AJ; Phillips TJ; Belknap JK; Finn DA; Keith LD. 1995. Genetic analysis of the corticosterone response to ethanol in BXD recombinant inbred mice. Behav Neurosci 109(6):1199-208. [PubMed: 8748968] [MGI Ref ID J:31087]
Rodriguez LA; Plomin R; Blizard DA; Jones BC; McClearn GE. 1995. Alcohol acceptance, preference, and sensitivity in mice. II. Quantitative trait loci mapping analysis using BXD recombinant inbred strains. Alcohol Clin Exp Res 19(2):367-73. [PubMed: 7625571] [MGI Ref ID J:25698]
Seecharan DJ; Kulkarni AL; Lu L; Rosen GD; Williams RW. 2003. Genetic control of interconnected neuronal populations in the mouse primary visual system. J Neurosci 23(35):11178-88. [PubMed: 14657177] [MGI Ref ID J:109842]
Tarricone BJ; Hwang WG; Hingtgen JN; Mitchell SR; Belknap JK; Nurnberger JI. 1995. Identification of a locus on mouse chromosome 17 associated with high-affinity choline uptake using BXD recombinant inbred mice and quantitative trait loci analysis. Genomics 27(1):161-4. [PubMed: 7665164] [MGI Ref ID J:25620]
Zidek V; Musilova A; Pintir J; Simakova M; Pravenec M. 1998. Genetic dissection of testicular weight in the mouse with the BXD recombinant inbred strains. Mamm Genome 9(7):503-5. [PubMed: 9657844] [MGI Ref ID J:48698]
Additional References
Cep290rd16 relatedChang B; Hawes NL; Davisson MT; Heckenlively JR. 2007. Mouse models of RP in Retinal Degenerations-Biology, Diagnostics and Therepeutics. In: . Humana Press, Totowa New Jersey. [MGI Ref ID J:147336]
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]
Cideciyan AV; Rachel RA; Aleman TS; Swider M; Schwartz SB; Sumaroka A; Roman AJ; Stone EM; Jacobson SG; Swaroop A. 2011. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Hum Mol Genet 20(7):1411-23. [PubMed: 21245082] [MGI Ref ID J:169232]
Freeman NE; Templeton JP; Orr WE; Lu L; Williams RW; Geisert EE. 2011. Genetic networks in the mouse retina: growth associated protein 43 and phosphatase tensin homolog network. Mol Vis 17:1355-72. [PubMed: 21655357] [MGI Ref ID J:179531]
Rachel RA; May-Simera HL; Veleri S; Gotoh N; Choi BY; Murga-Zamalloa C; McIntyre JC; Marek J; Lopez I; Hackett AN; Brooks M; den Hollander AI; Beales PL; Li T; Jacobson SG; Sood R; Martens JR; Liu P; Friedman TB; Khanna H; Koenekoop RK; Kelley MW; Swaroop A. 2012. Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J Clin Invest 122(4):1233-45. [PubMed: 22446187] [MGI Ref ID J:184545]
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 FGB27
Colony Maintenance
Mating System Sibling x Sibling (Female x Male) 01-MAR-06 Diet Information LabDiet® 5K54
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Live Mice
Price per mouse (US dollars $) Gender Individual Mouse $110.00 Female or Male Standard Supply
Repository-Live. Repository-Live represents an exclusive set of over 1500 unique mouse models maintained at The Jackson Laboratory to support a vast array of research areas. The breeding colonies for Repository Strains provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. Repository-live orders are treated as custom orders. Within 2 business days, we respond to each availability inquiry or order with various delivery options. Repository Strains typically are delivered at 4 to 8 weeks of age and will not exceed 12 weeks of age on the day of shipping.
| Pricing for International shipping destinations |
|
Live Mice
Price per mouse (US dollars $) Gender Individual Mouse $143.00 Female or Male Standard Supply
Repository-Live. Repository-Live represents an exclusive set of over 1500 unique mouse models maintained at The Jackson Laboratory to support a vast array of research areas. The breeding colonies for Repository Strains provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. Repository-live orders are treated as custom orders. Within 2 business days, we respond to each availability inquiry or order with various delivery options. Repository Strains typically are delivered at 4 to 8 weeks of age and will not exceed 12 weeks of age on the day of shipping.
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|
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Standard Supply
Repository-Live. Repository-Live represents an exclusive set of over 1500 unique mouse models maintained at The Jackson Laboratory to support a vast array of research areas. The breeding colonies for Repository Strains provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. Repository-live orders are treated as custom orders. Within 2 business days, we respond to each availability inquiry or order with various delivery options. Repository Strains typically are delivered at 4 to 8 weeks of age and will not exceed 12 weeks of age on the day of shipping.
General Supply Notes
- This strain is included in the Special Mutant Stock Resource collection.
- Genomic DNA is available for this strain from the Mouse DNA Resource.
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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.Ordering Information
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