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B6.CAST(Cg)-Large1vls/Pjn
Stock No: 005350
  • Congenic
  • Spontaneous Mutation
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    • Detailed Description
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    • Disease Terms
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    • Mammalian Phenotype Terms by Genotype
    • References
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Overview

Mice homozygous for the veils (Largevls) allele appear runted with muscle wasting. By five months of age, mild to moderate multifocal areas of cardiomyocyte degeneration are observed in the myocardium of homozygotes. Homozygote mice exhibit extensive ocular abnormalities including: retinal dysplasia, a disorganized ganglion cell layer, thinning of the inner nuclear layer, a progressive diminution of photoreceptor cells with aging, as well as, defects in the inner limiting membrane and outer plexiform layer.

Donating Investigator

Patsy Nishina, JAX

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Genetic overview

Genetic Background Generation
000664 C57BL/6J

Large1vls

Allele Type Gene Symbol Gene Name
Spontaneous Large1 LARGE xylosyl- and glucuronyltransferase 1
View Genetics

Research Applications

  • Sensorineural Research
  • Cardiovascular Research
  • Neurobiology Research
View All Research Applications

Details

Detailed Description

Mice homozygous for the veils (Largevls) allele appear runted with muscle wasting. By five months of age, mild to moderate multifocal areas of cardiomyocyte degeneration are observed in the myocardium of homozygotes. Homozygote mice exhibit extensive ocular abnormalities including: retinal dysplasia, a disorganized ganglion cell layer, thinning of the inner nuclear layer, a progressive diminution of photoreceptor cells with aging, as well as, defects in the inner limiting membrane and outer plexiform layer. (Lee Y, et al., 2005)

Development

The veils (vls) spontaneous mutation was first identified in the progeny of an F1 cross consisting of the progenitor strains CAST/Ei and a C57BL/6J congenic (N7) carrying the rd7 allele. The donor strain for the congenic was identified as 77-2C2a-special. (Lee Y, et al., 2005) A genome scan of F2 progeny indicated that the spontaneous mutation occurred in a CAST/Ei allele. This congenic has been backcrossed 10 times to C57BL/6J and does not carry the rd7 allele.

Control Suggestions

  • 000664 C57BL/6J

Additional Information

  • Considerations for Choosing Controls

Genetics

Large1vls

Allele Symbol: Large1vls

Allele Name veils
Allele Type Spontaneous
Allele Synonym(s) Largemyd-2J
Gene Symbol and Name Large1, LARGE xylosyl- and glucuronyltransferase 1
Gene Synonym(s)
Strain of Origin CAST/Ei
Chromosome 8
Molecular Note Analysis of cDNA from mutant mice revealed a deletion of coding sequences corresponding to exons 3 to 5. This results in a frameshift after codon 35, creating a premature stop codon at position 37 and effectively deleting the coiled coil and catalytic domains from the encoded protein.

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).

  • muscular dystrophy-dystroglycanopathy

Research Areas By Phenotype

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

Genotype: Large1vls related

  • Sensorineural Research
    • Eye Defects
  • Cardiovascular Research
    • Heart Abnormalities
      • cardiomyopathy
  • Neurobiology Research
    • Muscular Dystrophy
      • Dystroglycanopathy
  • Neurobiology Research
    • Muscular Dystrophy
      • Dystroglycanopathy

Mammalian Phenotype Terms by Genotype

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

Genotype: Large1vls/Large1vls
B6.CAST(Cg)-Large1/Pjn

behavior/neurological phenotype

  • decreased grip strength
    • 50% reduction in grip strength
    • (MGI Ref ID J:100214)

muscle phenotype

  • abnormal myocardium layer morphology
    • lesions observed in the left and right atria and ventricles
    • (MGI Ref ID J:100214)
    • myocardium exhibits mild to moderate areas of cardiomyocyte degeneration with mycytolysis, necrosis and interstitial fibrosis in 5 month old mice
    • (MGI Ref ID J:100214)
  • abnormal soleus morphology
    • occasional signs of fiber-type grouping in 6 month old mice
    • (MGI Ref ID J:100214)
  • abnormal diaphragm morphology
    • by 4 months diaphragm exhibits necrosis and fatty infiltration
    • (MGI Ref ID J:100214)
    • exhibits prominent interstial fibrosis with extensive degeneration and regeneration of myofibers at 1.5 months of age
    • (MGI Ref ID J:100214)
  • dilated cardiomyopathy
    • adult onset
    • (MGI Ref ID J:100214)

vision/eye phenotype

  • abnormal retinal layer morphology
    • layer is thinner than in control littermates
    • (MGI Ref ID J:100214)
    • layer is disorganized with a reduction in synaptic complexes
    • (MGI Ref ID J:100214)
  • abnormal eye electrophysiology
    • maximum amplitude of a-wave reduced in response to highest flash intensities in 2 month old mice
    • (MGI Ref ID J:100214)
    • amplitude of b-wave responses is reduced and delayed at all flash intensities in 2 month old mice
    • (MGI Ref ID J:100214)
    • larger negative polarity a-wave in response to intermediate flash intensities in 2 month old mice
    • (MGI Ref ID J:100214)
  • vitreal fibroplasia
      (MGI Ref ID J:100214)
  • abnormal retinal vasculature morphology
    • retinal vessel tortuosity and increase in number of retinal vessels
    • (MGI Ref ID J:100214)
    • leakage from the vasculature in the perioptic disc region in 25% of mice as determined by fluorescein angiography
    • (MGI Ref ID J:100214)
    • Background Sensitivity - in a segregating C57BL/6 and CAST background retinal vessel tortuosity is highly variable
    • (MGI Ref ID J:100214)
  • abnormal vitreous body morphology
    • bilateral pigmented or non-pigmented vitreal masses
    • (MGI Ref ID J:100214)
    • bundles of axons and thick walled blood vessels observed in peripheral vitreous
    • (MGI Ref ID J:100214)
  • disorganized retinal outer plexiform layer
    • layer is disorganized with a reduction in synaptic complexes
    • (MGI Ref ID J:100214)
  • abnormal retinal inner nuclear layer morphology
    • exhibits intracellular edema
    • (MGI Ref ID J:100214)
  • abnormal retinal neuronal layer morphology
      (MGI Ref ID J:100214)
  • disorganized retinal ganglion layer
    • appears disorganized
    • (MGI Ref ID J:100214)
  • vitreous body deposition
    • exhibits fibrous tissue in the vitreous body that appears cobweb or veil-like
    • (MGI Ref ID J:100214)
  • thin retinal inner nuclear layer
    • thinning of layer observed with aging
    • (MGI Ref ID J:100214)
  • abnormal retinal ganglion layer morphology
    • exhibits intracellular edema
    • (MGI Ref ID J:100214)
  • thin retinal outer plexiform layer
    • layer is thinner than in control littermates
    • (MGI Ref ID J:100214)
  • abnormal retinal outer plexiform layer morphology
      (MGI Ref ID J:100214)

cardiovascular system phenotype

  • abnormal retinal vasculature morphology
    • leakage from the vasculature in the perioptic disc region in 25% of mice as determined by fluorescein angiography
    • (MGI Ref ID J:100214)
    • retinal vessel tortuosity and increase in number of retinal vessels
    • (MGI Ref ID J:100214)
    • Background Sensitivity - in a segregating C57BL/6 and CAST background retinal vessel tortuosity is highly variable
    • (MGI Ref ID J:100214)
  • abnormal myocardium layer morphology
    • lesions observed in the left and right atria and ventricles
    • (MGI Ref ID J:100214)
    • myocardium exhibits mild to moderate areas of cardiomyocyte degeneration with mycytolysis, necrosis and interstitial fibrosis in 5 month old mice
    • (MGI Ref ID J:100214)
  • dilated cardiomyopathy
    • adult onset
    • (MGI Ref ID J:100214)

growth/size/body region phenotype

  • decreased body size
      (MGI Ref ID J:100214)

homeostasis/metabolism phenotype

  • increased circulating creatinine level
    • four-fold higher compared to control
    • (MGI Ref ID J:100214)

References

Additional - Large1vls related

Technical Support

CONTACT TECHNICAL SUPPORT
  • Genotyping Protocols

    • Genotyping resources and troubleshooting
  • Breeding Considerations

    Heterozygote x heterozygote matings produce less than the expected 25% homozygous progeny.

    • Additional Breeding and Husbandry Support
  • Appearance

    • black
      Related Genotype: a/a

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

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