Description

Strain Information

Type Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory 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   Cep290^rd16 allele

000031

BXD24/TyJ-Cep290rd16/J

View Strains carrying   Cep290^rd16     (1 strain)

Strains carrying other alleles of Cep290

018204	C57BL/6J-Cep290b2b1454Clo/J
013702	STOCK Cep290tm1.1Jgg/J
013701	STOCK Cep290tm1Jgg/J

View Strains carrying other alleles of Cep290     (3 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- 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)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

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

Cep290^rd16/Cep290^rd16

        BXD24/TyJ-Cep290^rd16/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)

View Research Applications

Research Applications

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

Cep290^rd16 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 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]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Cep290^rd16 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]

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]

Health & husbandry

Health & Colony Maintenance Information

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Room Number           A1

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• This strain is included in the Eye Mutant Resource within the Mouse Mutant Resource collection.

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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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