Strain Name:

B6.Cg-Cep290rd16/Boc

Stock Number:

012283

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Research Strain

Degeneration of outer segments and decreased thickness of the outer nuclear layer of the retina is found in homozygotes as early as 19 days of age. White retinal vessels appear at one month of age and large pigment patches are found at two months of age. This strain is useful for studies of the mechanism of early-onset photoreceptor degeneration

Description

Strain Information

Type Congenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Additional information on Congenic nomenclature.
Specieslaboratory mouse

Description
Degeneration of outer segments and decreased thickness of the outer nuclear layer of the retina is found in homozygotes as early as 19 days of age, but other cellular layers do not appear to be involved. White retinal vessels appear at one month of age and large pigment patches are found at two months of age.

Development
The retinal degeneration 16 mutation was identified by Norm Hawes the laboratory of Dr. Bo Chang in 2004 as a spontaneous mutation in the BXD24/TyJ strain. This mutation was backcrossed onto C57BL/6J for approximately 5 generations then intercrossed to make a homozygous line.

Related Strains

Strains carrying   Cep290rd16 allele
000031   BXD24/TyJ-Cep290rd16/J
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 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

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

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 * 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)

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)
  • growth/size/body 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)
View Research Applications

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

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


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References

References provided by MGI

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]

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]

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]

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]

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]

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Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $258.15Female or MaleHomozygous for Cep290rd16  
Price per Pair (US dollars $)Pair Genotype
$516.25Homozygous for Cep290rd16 x Homozygous for Cep290rd16  

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $335.60Female or MaleHomozygous for Cep290rd16  
Price per Pair (US dollars $)Pair Genotype
$671.20Homozygous for Cep290rd16 x Homozygous for Cep290rd16  

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

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