Strain Name:

BXD24/TyJ-Cep290rd16/J

Stock Number:

000031

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Availability:

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The BXD set of RI strains is used in the genetic analysis of numerous complex or potentially complex physiologic phenotypes. The strain distribution pattern (SDP) for BXD RI strains is available through the Mouse Genome Informatics Recombinant Inbred Strain Distribution Patterns. The spontaneous mutation, rd16, was discovered in this recombinant inbred line. Mice exhibit complete degeneration of retinal photoreceptors resulting in blindness.

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 SystemSibling x Sibling         (Female x Male)   01-MAR-06
Specieslaboratory mouse
RI progenitor C57BL/6J DBA/2J
H2 Haplotyped
GenerationF140+33 (16-DEC-13)
Generation Definitions

Appearance
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 is 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
000036   BXD1/TyJ
007143   BXD100/RwwJ
007144   BXD101/RwwJ
007145   BXD102/RwwJ
000012   BXD11/TyJ
000045   BXD12/TyJ
000040   BXD13/TyJ
000329   BXD14/TyJ
000095   BXD15/TyJ
000013   BXD16/TyJ
000015   BXD18/TyJ
000010   BXD19/TyJ
000075   BXD2/TyJ
000330   BXD20/TyJ
000077   BXD21/TyJ
000043   BXD22/TyJ
005243   BXD24/TyJ
000081   BXD25/TyJ
000041   BXD27/TyJ
000047   BXD28/TyJ
000029   BXD29-Tlr4lps-2J/J
010981   BXD29/Ty
000083   BXD31/TyJ
000078   BXD32/TyJ
003222   BXD33/TyJ
003223   BXD34/TyJ
003225   BXD36/TyJ
003227   BXD38/TyJ
003228   BXD39/TyJ
003229   BXD40/TyJ
003230   BXD42/TyJ
007093   BXD43/RwwJ
007094   BXD44/RwwJ
007096   BXD45/RwwJ
007097   BXD48/RwwJ
007139   BXD48a/RwwJ
007098   BXD49/RwwJ
000037   BXD5/TyJ
007099   BXD50/RwwJ
007100   BXD51/RwwJ
017749   BXD53/2RwwJ
007103   BXD55/RwwJ
007104   BXD56/RwwJ
000007   BXD6/TyJ
007105   BXD60/RwwJ
007106   BXD61/RwwJ
007107   BXD62/RwwJ
007108   BXD63/RwwJ
007109   BXD64/RwwJ
007109   BXD64/RwwJ
007110   BXD65/RwwJ
007140   BXD65a/RwwJ
009677   BXD65b/RwwJ
007111   BXD66/RwwJ
007112   BXD67/RwwJ
007113   BXD68/RwwJ
007114   BXD69/RwwJ
007115   BXD70/RwwJ
007116   BXD71/RwwJ
007117   BXD73/RwwJ
007124   BXD73a/RwwJ
007146   BXD73b/RwwJ
007118   BXD74/RwwJ
007119   BXD75/RwwJ
007121   BXD77/RwwJ
007123   BXD79/RwwJ
000084   BXD8/TyJ
007125   BXD81/RwwJ
007126   BXD83/RwwJ
007127   BXD84/RwwJ
007128   BXD85/RwwJ
007129   BXD86/RwwJ
007130   BXD87/RwwJ
017750   BXD88/2RwwJ
007132   BXD89/RwwJ
000105   BXD9/TyJ
007133   BXD90/RwwJ
017751   BXD91/2RwwJ
007138   BXD95/RwwJ
007141   BXD98/RwwJ
View BXD Strains     (80 strains)

Strains carrying   Cep290rd16 allele
012283   B6.Cg-Cep290rd16/Boc
View Strains carrying   Cep290rd16     (1 strain)

Strains carrying other alleles of Cep290
018204   C57BL/6J-Cep290b2b1454Clo/J
018226   C57BL/6J-Cep290b2b1752Clo/J
013702   STOCK Cep290tm1.1Jgg/J
013701   STOCK Cep290tm1Jgg/J
View Strains carrying other alleles of Cep290     (4 strains)

Phenotype

Phenotype Information

View Phenotypic Data

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- 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).
Leber Congenital Amaurosis 10; LCA10
- 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)
Meckel Syndrome, Type 4; MKS4   (CEP290)
Senior-Loken Syndrome 6; SLSN6   (CEP290)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      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)

Cep290rd16/Cep290rd16

        involves: BXD24/TyJ
  • cellular phenotype
  • abnormal cell morphology
    • primary dermal fibroblasts in culture are deficient in primary cilium formation, with about 50% fewer cells forming cilia than in wild-type cells   (MGI Ref ID J:204004)
    • cilia produced by dermal fibroblasts are more than 25% shorter than in wild-type cells   (MGI Ref ID J:204004)
  • taste/olfaction phenotype
  • abnormal olfactory epithelium morphology
    • some regions of the olfactory epithelium show signs of dendritic microtubule disorganization   (MGI Ref ID J:125553)
    • however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium   (MGI Ref ID J:125553)
  • anosmia
    • at all doses of odorant testing, mice show reduced electro-olfactogram responses at 1 month of age, indicating anosmia   (MGI Ref ID J:125553)
  • craniofacial phenotype
  • abnormal olfactory epithelium morphology
    • some regions of the olfactory epithelium show signs of dendritic microtubule disorganization   (MGI Ref ID J:125553)
    • however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium   (MGI Ref ID J:125553)
  • respiratory system phenotype
  • abnormal olfactory epithelium morphology
    • some regions of the olfactory epithelium show signs of dendritic microtubule disorganization   (MGI Ref ID J:125553)
    • however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium   (MGI Ref ID J:125553)

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Cep290rd16/Cep290rd16

        involves: BXD24/TyJ * C57BL/6
  • vision/eye phenotype
  • abnormal cone electrophysiology
    • mice show minimal S- and M-cone-mediated electroretinography responses that are near recording noise level and are smaller than wild-type responses   (MGI Ref ID J:169232)
  • abnormal retinal photoreceptor morphology
    • ciliary axoneme is reduced or absent, however the connecting cilium is intact and positioned appropriately   (MGI Ref ID J:169232)
    • abnormal photoreceptor outer segment morphology
      • stacks of outer segments are formed but do not organize into the extended vertical arrays   (MGI Ref ID J:169232)
      • photoreceptor outer segment degeneration
        • almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28   (MGI Ref ID J:169232)
      • short photoreceptor outer segment
        • early photoreceptor development occurs normally and all layers of the retina are present at P10 and P12, however, by P14, outer segment elongation is stalled and begins to regress   (MGI Ref ID J:169232)
    • photoreceptor inner segment degeneration
      • almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28   (MGI Ref ID J:169232)
    • retinal photoreceptor degeneration   (MGI Ref ID J:169232)
      • retinal cone cell degeneration
        • mice only show a single row of cone nuclei remaining after rod degeneration   (MGI Ref ID J:169232)
      • retinal rod cell degeneration
        • complete degeneration by P28   (MGI Ref ID J:169232)
  • thin retinal outer nuclear layer
    • pyknotic photoreceptor nuclei start to appear at P14 in the outer nuclear layer which starts to thin   (MGI Ref ID J:169232)
  • nervous system phenotype
  • abnormal retinal photoreceptor morphology
    • ciliary axoneme is reduced or absent, however the connecting cilium is intact and positioned appropriately   (MGI Ref ID J:169232)
    • abnormal photoreceptor outer segment morphology
      • stacks of outer segments are formed but do not organize into the extended vertical arrays   (MGI Ref ID J:169232)
      • photoreceptor outer segment degeneration
        • almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28   (MGI Ref ID J:169232)
      • short photoreceptor outer segment
        • early photoreceptor development occurs normally and all layers of the retina are present at P10 and P12, however, by P14, outer segment elongation is stalled and begins to regress   (MGI Ref ID J:169232)
    • photoreceptor inner segment degeneration
      • almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28   (MGI Ref ID J:169232)
    • retinal photoreceptor degeneration   (MGI Ref ID J:169232)
      • retinal cone cell degeneration
        • mice only show a single row of cone nuclei remaining after rod degeneration   (MGI Ref ID J:169232)
      • retinal rod cell degeneration
        • complete degeneration by P28   (MGI Ref ID J:169232)
View Research Applications

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

Neurobiology 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

Cep290rd16 related

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 OriginBXD24/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]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

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 related

Chang 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]

Drivas TG; Holzbaur EL; Bennett J. 2013. Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration. J Clin Invest 123(10):4525-39. [PubMed: 24051377]  [MGI Ref ID J:204004]

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]

Zhang Y; Seo S; Bhattarai S; Bugge K; Searby CC; Zhang Q; Drack AV; Stone EM; Sheffield VC. 2014. BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum Mol Genet 23(1):40-51. [PubMed: 23943788]  [MGI Ref ID J:203124]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           FGB27

Colony Maintenance

Mating SystemSibling 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 View International Pricing

Live Mice

Price per mouse (US dollars $)Gender
Individual Mouse $125.00Female or Male  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1500 unique mouse models across a vast array of research areas. Breeding colonies provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. If a Repository strain is not immediately available, then within 2 to 3 business days, you will receive an estimated availability timeframe for your inquiry or order along 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. We will note and try to accommodate requests for specific ages of Repository strains but cannot guarantee provision of these strains at specific ages. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, please let us know.

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Live Mice

Price per mouse (US dollars $)Gender
Individual Mouse $162.50Female or Male  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1500 unique mouse models across a vast array of research areas. Breeding colonies provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. If a Repository strain is not immediately available, then within 2 to 3 business days, you will receive an estimated availability timeframe for your inquiry or order along 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. We will note and try to accommodate requests for specific ages of Repository strains but cannot guarantee provision of these strains at specific ages. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, please let us know.

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1500 unique mouse models across a vast array of research areas. Breeding colonies provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. If a Repository strain is not immediately available, then within 2 to 3 business days, you will receive an estimated availability timeframe for your inquiry or order along 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. We will note and try to accommodate requests for specific ages of Repository strains but cannot guarantee provision of these strains at specific ages. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, please let us know.

General Supply Notes

  • This strain is included in the Special Mutant Stock Resource collection.

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.


See Terms of Use tab for General Terms and Conditions


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.
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Terms of Use


General Terms and Conditions


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JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


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