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B6.Cg-Crb1rd8 Jak3m1J/Boc
Stock No: 005558 | retinal vascularization 3 model
  • Congenic
  • Endonuclease-Mediated Mutation
  • Spontaneous Mutation
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  • Overview
  • Details
    • Detailed Description
    • Development
    • Control Suggestions
    • Selected References
  • Genetics
  • Disease/Phenotype
    • Disease Terms
    • Research Areas By Phenotype
    • Mammalian Phenotype Terms by Genotype
    • References
  • Technical Support
    • Genotyping Protocols
    • Breeding Considerations
    • Mating System
    • Breeder Pairs
    • Citation
    • Animal Health Reports
    • Contact Technical Support
  • Pricing & Availability
    • Price
    • Payment Terms
  • Terms Of Use
    • Additional Use Restrictions
  • Related Strains

Overview

Also Known As:rnv3, retinal vascularization 3 model
, NRV2 mice

This strain, which is homozygous for both of Crb1rd8 and Jak3m1J, has a more severe phenotype than Crb1rd8 homozygotes lacking the Jak3m1J mutation, with early-onset multifocal depigmented retinal lesions and photoreceptor loss. The phenotype of the combined genotype provides the model retinal vascularization 3 (rnv3).

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Genetic overview

Genetic Background Generation
N5F43
(2020-04-23 00:00:00)

Crb1rd8

Allele Type Gene Symbol Gene Name
Spontaneous Crb1 crumbs family member 1, photoreceptor morphogenesis associated

Jak3m1J

Allele Type Gene Symbol Gene Name
Spontaneous (Not Specified) Jak3 Janus kinase 3
View Genetics

Research Applications

  • Mouse/Human Gene Homologs
  • Immunology, Inflammation and Autoimmunity Research
  • Internal/Organ Research
  • Developmental Biology Research
  • Sensorineural Research
  • Cell Biology Research
View All Research Applications

Base Price

Starting at:

$305.00 Domestic price for female
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Details

Detailed Description

The ocular phenotype of Crb1rd8 homozygotes is increased in severity by the additional homozygosity of Jak3m1J. Double homozygotes develop multifocal depigmented retinal lesions by 18 days of age which expand in size and by 25 days of age fluorescein leakage is also found. This increases with age and is associated with progressive photoreceptor degeneration and accompanying deterioration of electroretinogram responses. At 8 weeks of age both scotopic and photopic electroretinogram responses are slightly reduced and by 8 months of age this reduction is severe. Neovessels extend from the deep retinal vascular plexus in the outer plexiform layer through the outer retina between 17 and 25 days of age and balloon-like neovessel structures are found in the photreceptor cell layer. By 2 months aberrant vessels are found to span from the retinal pigment epithelium to the inner nuclear layer, the outer nuclear layer is thinner than normal, and photoreceptor cell degeneration occurs where this vasculature disrupts the retina. In addition to the ocular phenotype these double homozygotes have small thymi and spleens due to homozygosity of the Jak3m1J mutation and can develop pneumocystis and die by 6 months of age. Sublines were bred from this strain that have only the Crb1rd8 mutation (see Stock # 031586) or only the Jak3m1J mutation (see Stock # 031587).

Development

Fundus retinal depigmentation spots were identified in the strain B6;129-Crhr1tm1Klee/J. These mice were backcrossed once to C57BL/6J and the resulting F1 hybrids intercrossed. From that population mice lacking the Crhr1tm1Klee mutation but expressing the retinal depigmentation spots were selected and this ocular phenotype was moved onto the C57BL/6J background by repeated rounds of backcross-intercross breeding until NE5 when the strain was intercrossed for homozygosity of both Crb1rd8 and Jak3m1J and maintained by sibling intercrossing.

Control Suggestions

Approximate Controls

  • 000664 C57BL/6J

Additional Information

  • Considerations for Choosing Controls

Selected References

  • Chang B; FitzMaurice B; Wang J; Low BE; Wiles MV; Nishina PM. 2018. Spontaneous Posterior Segment Vascular Disease Phenotype of a Mouse Model, rnv3, Is Dependent on the Crb1rd8 Allele. Invest Ophthalmol Vis Sci 59(12):5127-5139PubMed: 30372741MGI: J:265859
  • Nagai N; Lundh von Leithner P; Izumi-Nagai K; Hosking B; Chang B; Hurd R; Adamson P; Adamis AP; Foxton RH; Ng YS; Shima DT. 2014. Spontaneous CNV in a novel mutant mouse is associated with early VEGF-A-driven angiogenesis and late-stage focal edema, neural cell loss, and dysfunction. Invest Ophthalmol Vis Sci 55(6):3709-19PubMed: 24845632MGI: J:230019
View All References

Genetics

Crb1rd8

Allele Symbol: Crb1rd8

Allele Name retinal degeneration 8
Allele Type Spontaneous
Allele Synonym(s) Crb16N; nmf144; Rd8-
Gene Symbol and Name Crb1, crumbs family member 1, photoreceptor morphogenesis associated
Gene Synonym(s)
Strain of Origin C57BL/6By or C57BL/6N
Chromosome 1
Molecular Note The mutation in the rd8 mouse has been identified as a single base deletion of a C (G on forward strand) at coding nucleotide 3481 in the gene. This deletion causes a frame shift and a premature stop codon that truncates the transmembrane and cytoplasmic domain of the protein after amino acid 1207. This mutation has been found to be present in all sublines of C57BL/6N and in C57BL/6ByJ, but not in any C57BL/6J subline. It occurred sometime between transfer of mice from JAX to NIH, in 1951, and from NIH to Donald Bailey, in 1961.

Jak3m1J

Allele Symbol: Jak3m1J

Allele Name mutation 1, Jackson
Allele Type Spontaneous (Not Specified)
Allele Synonym(s)
Gene Symbol and Name Jak3, Janus kinase 3
Gene Synonym(s)
Strain of Origin B6;129-Crhr1tm1Klee/J
Chromosome 8
Molecular Note This spontaneous G to A transition in exon 24 results in a missense mutation, changing codon 1081 from CGG, arginine, to CAG, glutamine. This occurred in a gene sequence already containing the A to C transversion in codon 1032 common in at least 27 inbred strains, which causes an amino acid change from serine to arginine.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Crb1rd8 related

  • Mouse/Human Gene Homologs
    • Retinitis pigmentosa 12; Leber congenital amaurosis (CLA)
  • Developmental Biology Research
    • Eye Defects
  • Sensorineural Research
    • Retinal Degeneration
  • Cell Biology Research
    • Defects in Cell Adhesion Molecules
  • Immunology, Inflammation and Autoimmunity Research
    • Immunodeficiency Associated with Other Defects
    • Lymphoid Tissue Defects
      • B and T cell deficiency
  • Internal/Organ Research
    • Lymphoid Tissue Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: Crb1rd8/Crb1rd8 Jak3m1J/Jak3m1J
B6.Cg-Crb1 Jak3/Boc

pigmentation phenotype

  • abnormal retinal pigment epithelium morphology
      (MGI Ref ID J:265859)
  • abnormal retinal pigmentation
      (MGI Ref ID J:265859)

vision/eye phenotype

  • abnormal rod electrophysiology
      (MGI Ref ID J:265859)
  • abnormal eye electrophysiology
    • electroretinograms show a slight reduction in scotopic and photopic responses at 8 weeks of age and larger reduction at 8 months of age
    • (MGI Ref ID J:265859)
  • abnormal retinal pigmentation
      (MGI Ref ID J:265859)
  • abnormal electroretinogram waveform feature
      (MGI Ref ID J:265859)
  • abnormal retina morphology
    • at 18 days of age there are areas of retinal depigmentation lacking fluorescein leakage, the number and size of spots increases and some fluorescein leakage is found at 25 days of age, by 3 weeks of age subretinal vascularization and disturbance of the outer retina are found, and eventually the depigmented spots become large areas of depigmentation with aberrant blood vessels spaning from the retinal pigment epithelium to the inner nuclear layer accompanied by photoreceptor cell degeneration
    • (MGI Ref ID J:265859)
  • abnormal retinal pigment epithelium morphology
      (MGI Ref ID J:265859)
  • retinal spots
      (MGI Ref ID J:265859)
  • abnormal cone electrophysiology
      (MGI Ref ID J:265859)
  • abnormal retinal vasculature morphology
      (MGI Ref ID J:265859)
  • retinal neovascularization
      (MGI Ref ID J:265859)

cardiovascular system phenotype

  • retinal neovascularization
      (MGI Ref ID J:265859)
  • abnormal retinal vasculature morphology
      (MGI Ref ID J:265859)

endocrine/exocrine gland phenotype

  • small thymus
      (MGI Ref ID J:265859)

hematopoietic system phenotype

  • small spleen
      (MGI Ref ID J:265859)
  • decreased spleen weight
      (MGI Ref ID J:265859)
  • small thymus
      (MGI Ref ID J:265859)

immune system phenotype

  • decreased spleen weight
      (MGI Ref ID J:265859)
  • small spleen
      (MGI Ref ID J:265859)
  • small thymus
      (MGI Ref ID J:265859)

References

  • Chang B; FitzMaurice B; Wang J; Low BE; Wiles MV; Nishina PM. 2018. Spontaneous Posterior Segment Vascular Disease Phenotype of a Mouse Model, rnv3, Is Dependent on the Crb1rd8 Allele. Invest Ophthalmol Vis Sci 59(12):5127-5139PubMed: 30372741MGI: J:265859
  • Nagai N; Lundh von Leithner P; Izumi-Nagai K; Hosking B; Chang B; Hurd R; Adamson P; Adamis AP; Foxton RH; Ng YS; Shima DT. 2014. Spontaneous CNV in a novel mutant mouse is associated with early VEGF-A-driven angiogenesis and late-stage focal edema, neural cell loss, and dysfunction. Invest Ophthalmol Vis Sci 55(6):3709-19PubMed: 24845632MGI: J:230019

Additional References

  • Hasegawa E; Sweigard H; Husain D; Olivares AM; Chang B; Smith KE; Birsner AE; D'Amato RJ; Michaud NA; Han Y; Vavvas DG; Miller JW; Haider NB; Connor KM. 2014. Characterization of a spontaneous retinal neovascular mouse model. PLoS One 9(9):e106507PubMed: 25188381MGI: J:221530

Additional - Crb1rd8 related

Additional - Jak3m1J related

Technical Support

CONTACT TECHNICAL SUPPORT
  • Genotyping Protocols

    • Sanger sequencing:Jak3-SEQ
    • End Point Analysis:Jak3-EP
    • Genotyping resources and troubleshooting
  • Breeding Considerations

    Because Jak3m1J homozygotes are immunocompromised, due consideration should be given to their environment and treatment.

    • Additional Breeding and Husbandry Support
  • Mating System

    • Homozygote x Homozygote
    • Bred homozygous for both <
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    • sup>
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    • <
    • /i>
    • and <
    • i>
    • Jak3<
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    • m1J<
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  • Citation

    When using the retinal vascularization 3 model
    mouse strain in a publication, please cite the originating article(s) and include JAX stock #005558 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

MGL277 (Low)

Pricing & Availability

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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Additional Use Restrictions Apply

Use of MICE by companies or for-profit entities requires a no-fee JAX Leap License prior to shipping.

Licensing Information

Phone: 207-288-6470
Email: TechTran@jax.org

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