Overview

Also Known As: retinal degeneration 16, rd16

The spontaneous mutation, Cep290^rd16 (originally rd16), was discovered in the BXD24 recombinant inbred strain. Mice exhibit complete degeneration of retinal photoreceptors resulting in blindness.

Genetic overview

Genetic Background	Generation
	F140+46 (2019-03-07 00:00:00)

Cep290^rd16

Allele Type	Gene Symbol	Gene Name
Spontaneous	Cep290	centrosomal protein 290

View Genetics

Research Applications

Sensorineural Research

View All Research Applications

Base Price

Starting at:

$139.90 Domestic price for female

View Price List

Details

Detailed 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 the BXD24/TyJ 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 the BXD24/TyJ recombinant inbred 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,a deletion of exons 35 to 39. The non-mutant form of this recombinant inbred subline is available as stock #005243.

Selected References

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):1847-57PubMed: 16632484 MGI: J:108467
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):11178-88PubMed: 14657177 MGI: J:109842
Crabbe JC; Belknap JK. 1993. Behavior genetic analyses of drug withdrawal. Alcohol Alcohol Suppl 2:477-82PubMed: 7748342 MGI: J:109922
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):99-116PubMed: 2049054 MGI: J:11248
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):213-22PubMed: 8512534 MGI: J:11831
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):15917-22PubMed: 17898177 MGI: J:125553
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):399-413PubMed: 8125255 MGI: J:16986
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):184-92PubMed: 8169823 MGI: J:18566
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):81-100PubMed: 1590732 MGI: J:1952
Phillips TJ; Crabbe JC; Metten P; Belknap JK. 1994. Localization of genes affecting alcohol drinking in mice. Alcohol Clin Exp Res 18(4):931-41PubMed: 7978106 MGI: J:20482
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):62-6PubMed: 7724703 MGI: J:23071
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):161-4PubMed: 7665164 MGI: J:25620
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):269-78PubMed: 7625557 MGI: J:25695
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):367-73PubMed: 7625571 MGI: J:25698
Cunningham CL. 1995. Localization of genes influencing ethanol-induced conditioned place preference and locomotor activity in BXD recombinant inbred mice. Psychopharmacology (Berl) 120(1):28-41PubMed: 7480533 MGI: J:28135
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):PL117-24PubMed: 7643715 MGI: 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):337-44PubMed: 1393606 MGI: J:2827
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):545-56PubMed: 8540893 MGI: J:29803
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):1199-208PubMed: 8748968 MGI: J:31087
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):23-9PubMed: 8828582 MGI: J:34065
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):484-90PubMed: 8914121 MGI: J:36714
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):745-54PubMed: 8987796 MGI: J:37546
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):413-24PubMed: 1780413 MGI: J:39738
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):7995-8002PubMed: 9315917 MGI: J:43467
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):3023-34PubMed: 9526019 MGI: J:46922
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):503-5PubMed: 9657844 MGI: J:48698
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):263-71PubMed: 9655868 MGI: J:49185
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):1648-56PubMed: 9797472 MGI: J:50828
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):269-79PubMed: 10373097 MGI: J:55774
Browman KE; Crabbe JC. 2000. Quantitative trait loci affecting ethanol sensitivity in BXD recombinant inbred mice. Alcohol Clin Exp Res 24(1):17-23PubMed: 10656187 MGI: 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):153-60PubMed: 9266612 MGI: J:68169
Peleg L; Nesbitt MN. 1984. Genetic control of thymus size in inbred mice. J Hered 75(2):126-30PubMed: 6715864 MGI: J:7417

View All References

Genetics

Cep290^rd16

Allele Symbol: Cep290^rd16

Allele Name	retinal degeneration 16
Allele Type	Spontaneous
Allele Synonym(s)	Cep290^rd16; retinal degeneration 16
Gene Symbol and Name	Cep290, centrosomal protein 290
Gene Synonym(s)	BC004690; b2b1454Clo; b2b1752Clo; BBS14; CT87; rd16; NPHP6; cDNA sequence BC004690; RGD1311640; b2b1454Clo; b2b1752Clo; MGC:7859; MKS4; POC3; Mutant line 1454; Mutant line 1752; SLSN6; LCA10; JBTS5; 3H11Ag; Kiaa; Nphp6
Strain of Origin	BXD24/TyJ
Chromosome	10
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, which overlaps with the region of human CEP290 critical for microtubule binding. The truncated protein is detectable in retinal extracts derived from homozygous mice.

Disease/Phenotype

Disease Terms

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

Research Areas By Genotype

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

Genotype: Cep290^rd16 related

Sensorineural Research
- Retinal Degeneration
- Olfaction

Mammalian Phenotype Terms by Genotype

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

Genotype: Cep290^rd16/Cep290^rd16
involves: BXD24/TyJ * C57BL/6

nervous system phenotype

abnormal photoreceptor outer segment morphology
- stacks of outer segments are formed but do not organize into the extended vertical arrays

abnormal retinal photoreceptor morphology
- ciliary axoneme is reduced or absent, however the connecting cilium is intact and positioned appropriately

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

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

retinal cone cell degeneration
- mice only show a single row of cone nuclei remaining after rod degeneration

retinal photoreceptor degeneration

retinal rod cell degeneration
- complete degeneration by P28

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

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

abnormal photoreceptor outer segment morphology
- stacks of outer segments are formed but do not organize into the extended vertical arrays

abnormal retinal photoreceptor morphology
- ciliary axoneme is reduced or absent, however the connecting cilium is intact and positioned appropriately

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

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

retinal cone cell degeneration
- mice only show a single row of cone nuclei remaining after rod degeneration

retinal photoreceptor degeneration

retinal rod cell degeneration
- complete degeneration by P28

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

thin retinal outer nuclear layer
- pyknotic photoreceptor nuclei start to appear at P14 in the outer nuclear layer which starts to thin

The following phenotype relates to a compound genotype created using this strain

Genotype: Cep290^rd16/Cep290^rd16
BXD24/TyJ-Cep290/J

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

pigmentation phenotype

abnormal retinal pigment epithelium morphology
- large pigment patches appear at 2 months of age

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

abnormal retinal pigment epithelium morphology
- large pigment patches appear at 2 months of age

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

photoreceptor outer segment degeneration
- degeneration of outer segments in homozygotes is detected as early as 19 days of age and progresses as mice age

retinal degeneration
- detectable at 1 and 2 months of age

retinal spots
- retinae of homozygotes develops white retinal vessels at 1 month of age

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

Genotype: Cep290^rd16/Cep290^rd16
involves: BXD24/TyJ

cellular phenotype

abnormal cell morphology
- cilia produced by dermal fibroblasts are more than 25% shorter than in wild-type cells
- primary dermal fibroblasts in culture are deficient in primary cilium formation, with about 50% fewer cells forming cilia than in wild-type cells

craniofacial phenotype

abnormal olfactory epithelium morphology
- Normal - however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium
- some regions of the olfactory epithelium show signs of dendritic microtubule disorganization

growth/size/body region phenotype

abnormal olfactory epithelium morphology
- Normal - however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium
- some regions of the olfactory epithelium show signs of dendritic microtubule disorganization

respiratory system phenotype

abnormal olfactory epithelium morphology
- Normal - however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium
- some regions of the olfactory epithelium show signs of dendritic microtubule disorganization

taste/olfaction phenotype

abnormal olfactory epithelium morphology
- Normal - however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium
- some regions of the olfactory epithelium show signs of dendritic microtubule disorganization

anosmia
- at all doses of odorant testing, mice show reduced electro-olfactogram responses at 1 month of age, indicating anosmia

Phenotype Information

Wellcome Trust Centre for Human Genetics: Mouse Recombinant Inbred Line (RIL) Genotype Data for BXD RI Line

References

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):1847-57PubMed: 16632484 MGI: J:108467
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):11178-88PubMed: 14657177 MGI: J:109842
Crabbe JC; Belknap JK. 1993. Behavior genetic analyses of drug withdrawal. Alcohol Alcohol Suppl 2:477-82PubMed: 7748342 MGI: J:109922
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):99-116PubMed: 2049054 MGI: J:11248
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):213-22PubMed: 8512534 MGI: J:11831
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):15917-22PubMed: 17898177 MGI: J:125553
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):399-413PubMed: 8125255 MGI: J:16986
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):184-92PubMed: 8169823 MGI: J:18566
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):81-100PubMed: 1590732 MGI: J:1952
Phillips TJ; Crabbe JC; Metten P; Belknap JK. 1994. Localization of genes affecting alcohol drinking in mice. Alcohol Clin Exp Res 18(4):931-41PubMed: 7978106 MGI: J:20482
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):62-6PubMed: 7724703 MGI: J:23071
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):161-4PubMed: 7665164 MGI: J:25620
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):269-78PubMed: 7625557 MGI: J:25695
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):367-73PubMed: 7625571 MGI: J:25698
Cunningham CL. 1995. Localization of genes influencing ethanol-induced conditioned place preference and locomotor activity in BXD recombinant inbred mice. Psychopharmacology (Berl) 120(1):28-41PubMed: 7480533 MGI: J:28135
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):PL117-24PubMed: 7643715 MGI: 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):337-44PubMed: 1393606 MGI: J:2827
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):545-56PubMed: 8540893 MGI: J:29803
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):1199-208PubMed: 8748968 MGI: J:31087
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):23-9PubMed: 8828582 MGI: J:34065
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):484-90PubMed: 8914121 MGI: J:36714
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):745-54PubMed: 8987796 MGI: J:37546
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):413-24PubMed: 1780413 MGI: J:39738
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):7995-8002PubMed: 9315917 MGI: J:43467
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):3023-34PubMed: 9526019 MGI: J:46922
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):503-5PubMed: 9657844 MGI: J:48698
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):263-71PubMed: 9655868 MGI: J:49185
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):1648-56PubMed: 9797472 MGI: J:50828
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):269-79PubMed: 10373097 MGI: J:55774
Browman KE; Crabbe JC. 2000. Quantitative trait loci affecting ethanol sensitivity in BXD recombinant inbred mice. Alcohol Clin Exp Res 24(1):17-23PubMed: 10656187 MGI: 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):153-60PubMed: 9266612 MGI: J:68169
Peleg L; Nesbitt MN. 1984. Genetic control of thymus size in inbred mice. J Hered 75(2):126-30PubMed: 6715864 MGI: J:7417

Additional References

Philip VM; Duvvuru S; Gomero B; Ansah TA; Blaha CD; Cook MN; Hamre KM; Lariviere WR; Matthews DB; Mittleman G; Goldowitz D; Chesler EJ. 2010. High-throughput behavioral phenotyping in the expanded panel of BXD recombinant inbred strains. Genes Brain Behav 9(2):129-59PubMed: 19958391 MGI: J:170054
Di Curzio DL; Goldowitz D. 2011. The genetic basis of adrenal gland weight and structure in BXD recombinant inbred mice. Mamm Genome 22(3-4):209-34PubMed: 21347846 MGI: J:170709
Kim YJ; Kim S; Jung Y; Jung E; Kwon HJ; Kim J. 2018. Eupatilin rescues ciliary transition zone defects to ameliorate ciliopathy-related phenotypes. J Clin Invest 128(8):3642-3648PubMed: 30035750 MGI: J:265676
Chella Krishnan K; Kurt Z; Barrere-Cain R; Sabir S; Das A; Floyd R; Vergnes L; Zhao Y; Che N; Charugundla S; Qi H; Zhou Z; Meng Y; Pan C; Seldin MM; Norheim F; Hui S; Reue K; Lusis AJ; Yang X. 2018. Integration of Multi-omics Data from Mouse Diversity Panel Highlights Mitochondrial Dysfunction in Non-alcoholic Fatty Liver Disease. Cell Syst 6(1):103-115.e7PubMed: 29361464 MGI: J:272734

Additional - Cep290^rd16 related

Technical Support

Contact Technical Support

Genotyping Protocols
- Genotyping resources and troubleshooting
Dietary Information
- LabDiet® 5K52 formulation (6% fat)
Mating System
- Sibling x Sibling
Appearance
- chocolate brown
  Related Genotype: a/a Tyrp1^b/Tyrp1^b Myo5a⁺/Myo5a⁺
Citation
When using the rd16 mouse strain in a publication, please cite the originating article(s) and include JAX stock #000031 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

FGB29 (Standard)

Pricing & Availability

Available

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service	Genotype	Price
	Homozygous for a, Homozygous for Tyrp1<b>, Homozygous for rd6, Wild-type for Myo5a, 1 pair minimum

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We 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.

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.

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.

Terms Of Use

Terms of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

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"). "PRODUCT(S)" means biological materials supplied by JACKSON, and their derivatives. "SERVICES" means projects conducted by JACKSON for other parties that may include but are not limited to the use of MICE or PRODUCTS. "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 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, PRODUCTS or SERVICES 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.

Credit for PRODUCTS or SERVICES

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of, PRODUCTS or SERVICES, JACKSON will, at its option, provide credit or replacement for the PRODUCT received or the SERVICES provided; JACKSON makes no other representations and this shall be the exclusive remedy of the purchaser. Please note specific policy for live mice.

Animal Care and Use for SERVICES

Consistent with the requirement for a written understanding regarding animal care and use, the JACKSON Animal Care and Use Committee will review the animal care and use protocol(s) associated with any SERVICES to be performed at JACKSON, and JACKSON shall have ultimate responsibility and authority for the care of animals while on site or in JACKSON custody.

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, PRODUCTS or SERVICES 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.

Also Known As: retinal degeneration 16, rd16

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Selected References

Cep290rd16

Allele Symbol: Cep290rd16

Disease Terms

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).

Research Areas By Genotype

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

Genotype: Cep290rd16 related

Mammalian Phenotype Terms by Genotype

Genotype: Cep290rd16/Cep290rd16involves: BXD24/TyJ * C57BL/6

nervous system phenotype

vision/eye phenotype

Genotype: Cep290rd16/Cep290rd16BXD24/TyJ-Cep290/J

nervous system phenotype

pigmentation phenotype

vision/eye phenotype

Genotype: Cep290rd16/Cep290rd16involves: BXD24/TyJ

cellular phenotype

craniofacial phenotype

growth/size/body region phenotype

respiratory system phenotype

taste/olfaction phenotype

Phenotype Information

References

Additional References

Additional - Cep290rd16 related

Genotyping Protocols

Dietary Information

Mating System

Appearance

Citation

Animal Health Reports

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Cep290^rd16

Allele Symbol: Cep290^rd16

Genotype: Cep290^rd16 related

Genotype: Cep290^rd16/Cep290^rd16
involves: BXD24/TyJ * C57BL/6

Genotype: Cep290^rd16/Cep290^rd16
BXD24/TyJ-Cep290/J

Genotype: Cep290^rd16/Cep290^rd16
involves: BXD24/TyJ

Additional - Cep290^rd16 related