Strain Name:

B6.129S6(Cg)-Rhotm1.1Kpal/J

Stock Number:

017628

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Availability:

Repository- Live

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These mice carry the P23H mutation of the Rho (rhodopsin) gene and exhibit progressive retinal degeneration observed in patients with autosomal dominant retinitis pigmentosa.

Description

Strain Information

Former Names B6.Cg-Rhotm1.1Kpal/J    (Changed: 20-SEP-12 )
Type Congenic; Mutant Strain; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Mating SystemHomozygote x Homozygote         (Female x Male)   10-JUL-13
Specieslaboratory mouse
GenerationN6pN1+F3 (11-DEC-13)
Generation Definitions
 
Donating Investigator Krzysztof Palczewski,   Case Western Reserve University

Description
These mice carry a nucleotide substitution at codon 23, CCC to CAC, encoding the amino acid substitution of histidine for phenylalanine at position 23, P23H. The P23H mutation is one of the most common causes of autosomal dominant retinitis pigmentosa. Mice that are homozygous for the targeted mutation are viable and fertile. Both the mutant and wildtype gene product (mRNA) is detected by cDNA sequencing chromatogram. The phenotype in heterozygous mice mimics the retinopathy and progressive retinal degeneration observed in patients with autosomal dominant retinitis pigmentosa caused by the P23H mutation. By 35 days of age, heterozygotes have a shorter rod outer segment when compared to controls. At post natal day 63, heterozygotes have fewer rod nuclei (half the number observed in wildtype mice), and decreased length of the rod outer segment. Homozygous mice exhibit a more severe phenotype with thinner outer nuclear layer, severe photoreceptor degeneration by post natal day 23 and loss of almost all photoreceptor cells by post natal day 63. Glycosylation of the mutant P23H protein is severely diminished.

Development
A targeting vector containing a FRT and loxP site flanked NEO cassette was used to insert the nucleotide substitution at codon 23, CCC to CAC, encoding the point mutation P23H. The construct was electroporated into 129S6/SvEvTac derived iTL1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts. The resulting chimeric animals were crossed generate homozygotes. The mice were crossed to transgenic mice (on the B6.FVB genetic background) expressing Cre recombinase under the control of the adenovirus EIIa promoter (Stock No. 003724) to remove the NEO selection cassette. The mice were backcrossed to C57BL/6 for 6 generations and no longer contain the Cre recombinase transgene. Upon arrival at The Jackson Laboratory, the mice were crossed to C57BL/6J (Stock No. 000664) at least once to establish the colony.

Control Information

  Control
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Rho
017752   B6.129S-Sagtm1Jnc Tg(Rho-Sag*)240Seva/Mmjax
017753   B6.129S-Sagtm1Jnc Tg(Rho-Sag*)50Seva/Mmjax
View Strains carrying other alleles of Rho     (2 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).
Retinitis Pigmentosa 4; RP4
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Fundus Albipunctatus   (RHO)
Night Blindness, Congenital Stationary, Autosomal Dominant 1; CSNBAD1   (RHO)
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.

Rhotm1.1Kpal/Rho+

        involves: 129S6/SvEvTac * C57BL/6 * FVB/N
  • vision/eye phenotype
  • abnormal cone electrophysiology
    • mildly reduced at P70   (MGI Ref ID J:170648)
    • severely depressed at P170   (MGI Ref ID J:170648)
    • continuous decline until P276   (MGI Ref ID J:170648)
  • abnormal retinal layer morphology
    • the distance between retina pigmented epithelium and the outer limiting membrane is reduced compared to in wild-type mice   (MGI Ref ID J:170648)
    • abnormal retinal rod cell outer segment morphology
      • shortened at P35 and P112   (MGI Ref ID J:170648)
    • decreased retinal rod cell number
      • half the number in wild-type mice   (MGI Ref ID J:170648)
    • disorganized photoreceptor outer segment
    • retinal rod cell degeneration
      • due to necrosis   (MGI Ref ID J:170648)
    • thin retinal outer nuclear layer
  • abnormal rod electrophysiology
    • severely reduced at P41   (MGI Ref ID J:170648)
    • nearly undetectable by P170   (MGI Ref ID J:170648)
  • nervous system phenotype
  • abnormal retinal rod cell outer segment morphology
    • shortened at P35 and P112   (MGI Ref ID J:170648)
  • decreased retinal rod cell number
    • half the number in wild-type mice   (MGI Ref ID J:170648)
  • disorganized photoreceptor outer segment
  • retinal rod cell degeneration
    • due to necrosis   (MGI Ref ID J:170648)

Rhotm1.1Kpal/Rhotm1.1Kpal

        involves: 129S6/SvEvTac * C57BL/6 * FVB/N
  • vision/eye phenotype
  • decreased retinal photoreceptor cell number
    • at P63, photoreceptor cells are almost gone unlike in wild-type mice   (MGI Ref ID J:170648)
  • thin retinal outer nuclear layer   (MGI Ref ID J:170648)
  • nervous system phenotype
  • decreased retinal photoreceptor cell number
    • at P63, photoreceptor cells are almost gone unlike in wild-type mice   (MGI Ref ID J:170648)
View Research Applications

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

Developmental Biology Research
Eye Defects

Research Tools
Sensorineural Research
      retinal degeneration

Sensorineural Research
Eye Defects
Retinal Degeneration
      retinitis pigmentosa

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Rhotm1.1Kpal
Allele Name targeted mutation 1.1, Krzysztof Palczewski
Allele Type Targeted
Common Name(s) RhoP23H;
Mutation Made By Krzysztof Palczewski,   Case Western Reserve University
Strain of Origin129S6/SvEvTac
Promoter Rho, rhodopsin, mouse, laboratory
Molecular Note Nucleotide substitution at codon 23 (CCC to CAC) resulted in the amino acid substitution of histidine for phenylalanine at position 23 (P23H). An FRT-flanked neo cassette inserted downstream of exon 1 was removed by flp-mediated recombination. [MGI Ref ID J:170648]

Genotyping

Genotyping Information

Genotyping Protocols

** Rho*P23H, Pyrosequencing
Rhotm1.1Kpal, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Sakami S; Maeda T; Bereta G; Okano K; Golczak M; Sumaroka A; Roman AJ; Cideciyan AV; Jacobson SG; Palczewski K. 2011. Probing Mechanisms of Photoreceptor Degeneration in a New Mouse Model of the Common Form of Autosomal Dominant Retinitis Pigmentosa due to P23H Opsin Mutations. J Biol Chem 286(12):10551-67. [PubMed: 21224384]  [MGI Ref ID J:170648]

Additional References

Rhotm1.1Kpal related

Sakami S; Kolesnikov AV; Kefalov VJ; Palczewski K. 2014. P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis. Hum Mol Genet 23(7):1723-41. [PubMed: 24214395]  [MGI Ref ID J:207143]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           AX18

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, these mice can be bred as homozygotes.
Mating SystemHomozygote x Homozygote         (Female x Male)   10-JUL-13
Diet Information LabDiet® 5K52/5K67

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 $)GenderGenotypes Provided
Individual Mouse $232.00Female or MaleHomozygous for Rhotm1.1Kpal  
Price per Pair (US dollars $)Pair Genotype
$464.00Homozygous for Rhotm1.1Kpal x Homozygous for Rhotm1.1Kpal  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $301.60Female or MaleHomozygous for Rhotm1.1Kpal  
Price per Pair (US dollars $)Pair Genotype
$603.20Homozygous for Rhotm1.1Kpal x Homozygous for Rhotm1.1Kpal  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

Control Information

  Control
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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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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