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STOCK Crb1rd8/J
Stock No: 003392
  • Spontaneous Mutation
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    • Detailed Description
    • Development
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  • Disease/Phenotype
    • Disease Terms
    • Research Areas By Phenotype
    • Mammalian Phenotype Terms by Genotype
    • References
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Overview

Retinal degeneration 8 (rd8) is a spontaneous frame shift mutation in the Crb1 (crumbs homolog 1 (Drosophila)) gene. Mice homozygous for the rd8 allele exhibit a discontinuous and fragmented zona adherens, shortened photoreceptor inner and outer segments, and areas of retinal degeneration (retinal spotting).

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Genetic overview

Genetic Background Generation
N2N4F?+26
(2020-04-23 00:00:00)

Crb1rd8

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

Cdh23ahl

Allele Type Gene Symbol Gene Name
Spontaneous Cdh23 cadherin 23 (otocadherin)
View Genetics

Research Applications

  • Neurobiology Research
  • Sensorineural Research
  • Developmental Biology Research
  • Cell Biology Research
  • Mouse/Human Gene Homologs
View All Research Applications

Base Price

Starting at:

$205.90 Domestic price for female
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Details

Important Note

The C57BL/6J background strain is homozygous for the age related hearing loss mutation Cdh23ahl, which on this background results in progressive hearing loss with onset after 10 months of age.

Detailed Description

Crb1 (crumbs homolog 1 (Drosophila)) encodes a transmembrane protein that localizes to the apical membrane of epithelial cells and is involved cell polarity in the retina and in the assembly of zonula adherens. Mutations in CRB1 are associated with retinitis pigmentosa and Lebers congenital amaurosis. Mice homozygous for retinal degeneration 8 (rd8) exhibit a discontinuous and fragmented zona adherens, shortened photoreceptor inner and outer segments by 2 weeks of age, and large retinal spots. In contrast to phenotypes associated with other retinal degeneration alleles, retinal degeneration in rd8 mutants is localized to the retinal spots. Within these spots, caused by retinal folds and pseudorosettes, retinal thinning in both the inner and outer nuclear layers is observed. The phenotype associated with rd8 allele is variable depending on genetic background. On the C57BL/6 background, 19% of homozygotes do not exhibit retinal spotting.

Development

Although all C3H strains carry the retinal degeneration 1 mutation of Pde6b, retinas of C3fBAnl.Cg-Catb/AnlJ mice were found to have a peculiar, granular appearance distinct from the usual retinal degeneration 1 phenotype. F2 progeny of a cross of C3fBAnl.Cg-Catb/AnlJ and C57BL/6ByJ mice exhibited three retinal phenotypes: 1) normal; 2) patches of pigment deposition and large, diffuse pigmented regions typical of retinal degeneration 1 homozygotes; and 3) small, discrete, light-colored dots throughout the fundus. Mice exhibiting the last phenotype were intercrossed among themselves to produce a stock that was homozygous for Mfrprd6 and for the wild-type allele of Pde6b. During this process, a separate mutation with a distinct map position was identified and characterized as Crb1rd8. STOCK Crb1rd8 Mfrprd6/J was homozygous for both Mfrprd6 and Crb1rd8 on this mixed genetic background that derived in part from C57BL/6ByJ, C3H, 101, and a linkage testing stock derived from non-inbred stocks. In order to isolate Crb1rd8 this stock was backcrossed to C57BL/6ByJ once more, the offspring intercrossed, and their offspring were selected for the Crb1rd8 phenotype. This mutation was then backcrossed to C57BL/6J for 4 generations before this strain was maintained by sibling intercrossing.

Control Suggestions

  • C57BL/6J (Stock Number 000664) is only an approximate control for this stock, whose genetic background is ~87.5% C57BL/6J and ~12.5% C3HfB/Ga.

Approximate Controls

  • 000664 C57BL/6J

Additional Information

  • Considerations for Choosing Controls

Selected References

  • Mehalow AK; Kameya S; Smith RS; Hawes NL; Denegre JM; Young JA; Bechtold L; Haider NB; Tepass U; Heckenlively JR; Chang B; Naggert JK; Nishina PM. 2003. CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum Mol Genet 12(17):2179-89PubMed: 12915475MGI: J:85459
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.

Cdh23ahl

Allele Symbol: Cdh23ahl

Allele Name age related hearing loss 1
Allele Type Spontaneous
Allele Synonym(s) Cdh23753A; mdfw
Gene Symbol and Name Cdh23, cadherin 23 (otocadherin)
Gene Synonym(s)
Strain of Origin multiple strains
Chromosome 10
Molecular Note Genetic complementation tests have shown allelism between the mdfw (modifier of deaf waddler) locus and the ahl locus. Further analysis has shown this is caused by a G to A transition at coding nucleotide position 753 of Cdh23 (SNP rs257098870). This hypomorphic allele changes splice donor site G-GT to A-GT, causing frame skipping of exon 7. This is predicted to delete part of the 2nd and 3rd ectodomains and cause reduced message stability. Twenty-seven strains classified with ahl and carrying the 753A allele include: CD-1, RBF/DnJ, PL/J, AKR/J, RF/J, BALB/cBy, A/WySnJ, P/J, SENCARA/PtJ, DBA/1J, ALS/LtJ, C58/J, C57BLKS/J, 129P1/ReJ, C57BR/cd, SKH2/J, BUB/Bn, MA/MyJ, LP/J, 129X1/SvJ, NOR/LtJ, A/J, C57BL/6, NOD/LtJ, DBA/2J, ALR/LtJ, C57L/J. Strains classified with ahl that DO NOT carry this mutation include: 129S1/SvImJ, C3H/HeSnJ, I/LnJ, YBR/Ei, MRL/MpJ.

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 8

Research Areas By Phenotype

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

Genotype: Cdh23ahl related

  • Neurobiology Research
    • Hearing Defects
      • Age related hearing loss
  • Sensorineural Research
    • Hearing Defects
      • Age related hearing loss

Genotype: Crb1rd8 related

  • Developmental Biology Research
    • Eye Defects
  • Sensorineural Research
    • Retinal Degeneration
  • Cell Biology Research
    • Defects in Cell Adhesion Molecules
  • Mouse/Human Gene Homologs
    • Retinitis pigmentosa 12; Leber congenital amaurosis (CLA)

Mammalian Phenotype Terms by Genotype

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

Genotype: Crb1rd8/Crb1rd8
B6.Cg-Crb1 Jak3<+>/Boc

cardiovascular system phenotype

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

pigmentation phenotype

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

vision/eye phenotype

  • abnormal retina morphology
    • retinal neovascularization with retinal depigmentation spots are found by 1 month of age, a more mild phenotype that that found in mice also homozygous for a point mutation in Janus kinase 3
    • (MGI Ref ID J:265859)
  • retinal spots
      (MGI Ref ID J:265859)
  • abnormal retinal vasculature morphology
      (MGI Ref ID J:265859)
  • abnormal retinal pigmentation
      (MGI Ref ID J:265859)
  • abnormal retinal pigment epithelium morphology
      (MGI Ref ID J:265859)
  • retinal neovascularization
      (MGI Ref ID J:265859)

Genotype: Crb1rd8/Crb1rd8
involves: C57BL/6N

pigmentation phenotype

  • abnormal retinal pigment epithelium morphology
    • retinal pigment epithelium vacuolation
    • (MGI Ref ID J:182353)

vision/eye phenotype

  • retinal degeneration
    • fundus lesions(spots) coalesce to form diffuse lesions or large patches and are visible by histological examination as early as 6 weeks of age
    • (MGI Ref ID J:182353)
    • appearance of retinal lesions or spots is variable
    • (MGI Ref ID J:182353)
    • nonimflammatory retinal degeneration is observed in the inner and outer nuclear layers, the outer plexiform layer and photoreceptor outer segments
    • (MGI Ref ID J:182353)
  • abnormal retinal pigment epithelium morphology
    • retinal pigment epithelium vacuolation
    • (MGI Ref ID J:182353)

Genotype: Crb1rd8/Crb1rd8
involves: C3HfB6/Ga * C57BL/6 * CAST/EiJ

vision/eye phenotype

  • abnormal retina morphology
    • Background Sensitivity - 19% of mice do not display the spotting phenotype on a CAST/EiJ mixed background
    • (MGI Ref ID J:85459)

Genotype: Crb1rd8/Crb1rd8
B6.Cg-Crb1

mammalian phenotype

  • vision/eye phenotype
    • Background Sensitivity - mice no longer display the spotting phenotype when backcrossed from a CAST/EiJ background onto a C57BL/6 background
    • (MGI Ref ID J:85459)
The following phenotype relates to a compound genotype created using this strain

Genotype: Crb1rd8/Crb1rd8
STOCK Crb1/J

vision/eye phenotype

  • abnormal Muller cell morphology
    • Muller cells exhibit increased electron density and cytoplasmic strands that are more easily traced through the plexiform layer than in wild-type mice
    • (MGI Ref ID J:85459)
  • abnormal photoreceptor inner segment morphology
    • swelling occurs in portions of the inner segments
    • (MGI Ref ID J:85459)
    • by 5 months the inner segment approaches the retinal pigment epithelium
    • (MGI Ref ID J:85459)
    • the photoreceptor inner segments lose their orderly arrangement
    • (MGI Ref ID J:85459)
  • abnormal retina morphology
    • retinal thinning in both the inner and outer segment is observed
    • (MGI Ref ID J:85459)
  • abnormal retinal photoreceptor morphology
    • the photoreceptor lamellae breaks down
    • (MGI Ref ID J:85459)
  • photoreceptor outer segment degeneration
    • by week 10 the outer segment begins to fragment
    • (MGI Ref ID J:85459)
    • by 5 months only a few outer segment fragments remain
    • (MGI Ref ID J:85459)
  • short photoreceptor inner segment
    • at 4 weeks the photoreceptor inner segments are 25% shorter
    • (MGI Ref ID J:85459)
  • abnormal ocular fundus morphology
    • mice exhibit large, irregularly shaped spots concentrated in the inferior nasal quadrant of the fundus as early as week 3 that correspond to retinal folds and pseudorosettes
    • (MGI Ref ID J:85459)
  • decreased retinal photoreceptor cell number
    • in the region of focal degeneration photoreceptors are lost
    • (MGI Ref ID J:85459)
  • thin retinal outer nuclear layer
    • in older mice, the retinal outer nuclear layer is reduced to a single row of nuclei
    • (MGI Ref ID J:85459)
  • abnormal retina outer limiting membrane morphology
    • the external limiting membrane in the retina is fragmented and disorganized at 2 weeks and is more severe at 4 weeks
    • (MGI Ref ID J:85459)
  • short photoreceptor outer segment
    • the photoreceptor outer segments are shortened
    • (MGI Ref ID J:85459)

nervous system phenotype

  • abnormal photoreceptor inner segment morphology
    • swelling occurs in portions of the inner segments
    • (MGI Ref ID J:85459)
    • the photoreceptor inner segments lose their orderly arrangement
    • (MGI Ref ID J:85459)
    • by 5 months the inner segment approaches the retinal pigment epithelium
    • (MGI Ref ID J:85459)
  • photoreceptor outer segment degeneration
    • by week 10 the outer segment begins to fragment
    • (MGI Ref ID J:85459)
    • by 5 months only a few outer segment fragments remain
    • (MGI Ref ID J:85459)
  • abnormal Muller cell morphology
    • Muller cells exhibit increased electron density and cytoplasmic strands that are more easily traced through the plexiform layer than in wild-type mice
    • (MGI Ref ID J:85459)
  • abnormal retinal photoreceptor morphology
    • the photoreceptor lamellae breaks down
    • (MGI Ref ID J:85459)
  • decreased retinal photoreceptor cell number
    • in the region of focal degeneration photoreceptors are lost
    • (MGI Ref ID J:85459)
  • short photoreceptor outer segment
    • the photoreceptor outer segments are shortened
    • (MGI Ref ID J:85459)
  • short photoreceptor inner segment
    • at 4 weeks the photoreceptor inner segments are 25% shorter
    • (MGI Ref ID J:85459)

References

  • Mehalow AK; Kameya S; Smith RS; Hawes NL; Denegre JM; Young JA; Bechtold L; Haider NB; Tepass U; Heckenlively JR; Chang B; Naggert JK; Nishina PM. 2003. CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum Mol Genet 12(17):2179-89PubMed: 12915475MGI: J:85459

Additional - Cdh23ahl related

Additional - Crb1rd8 related

Technical Support

CONTACT TECHNICAL SUPPORT
  • Genotyping Protocols

    • End Point Analysis:Crb1End Point
    • Genotyping resources and troubleshooting
  • Mating System

    • Homozygote x Homozygote
  • Appearance

    • black
      Related Genotype: a/a
  • Citation

    When using the STOCK Crb1rd8/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #003392 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

MGL277 (Low)

Pricing & Availability

Availability Varies
  • Domestic
  • International

Live Mouse

Age Genotype Price
weeks

Cryorecovery - Pricing

Service/Product Description Price
Homozygous for Crb1<rd8>, 1 pair minimum

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

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

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