Overview

Mice homozygous for the veils (Large^vls) 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

Genetic overview

Genetic Background	Generation
000664 C57BL/6J	N10F9 (2007-11-06 00:00:00)

Large1^vls

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

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Research Applications

Sensorineural Research
Cardiovascular Research
Neurobiology Research

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Base Price

Starting at:

$34.19 Domestic price for female

474.55 Domestic price for breeder pair

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Details

Detailed Description

Mice homozygous for the veils (Large^vls) 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

Large1^vls

Allele Symbol: Large1^vls

Allele Name	veils
Allele Type	Spontaneous
Allele Synonym(s)	veils; Large1^vls
Gene Symbol and Name	Large1, LARGE xylosyl- and glucuronyltransferase 1
Gene Synonym(s)	enr; MDC1D; BPFD#36; myd; enr; enervated; like-glycosyltransferase; froggy; mKIAA0609; fg; Mbp-1; myelin basic protein transgene; myodystrophy; fg; Large; Mbp1; froggy; MDDGA6; MDDGB6; LARGE
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 Genotype

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

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

behavior/neurological phenotype

decreased grip strength
- 50% reduction in grip strength

muscle phenotype

abnormal diaphragm morphology
- by 4 months diaphragm exhibits necrosis and fatty infiltration
- exhibits prominent interstial fibrosis with extensive degeneration and regeneration of myofibers at 1.5 months of age

abnormal myocardium layer morphology
- lesions observed in the left and right atria and ventricles
- myocardium exhibits mild to moderate areas of cardiomyocyte degeneration with mycytolysis, necrosis and interstitial fibrosis in 5 month old mice

abnormal soleus morphology
- occasional signs of fiber-type grouping in 6 month old mice

dilated cardiomyopathy
- adult onset

vision/eye phenotype

abnormal eye electrophysiology
- amplitude of b-wave responses is reduced and delayed at all flash intensities in 2 month old mice
- larger negative polarity a-wave in response to intermediate flash intensities in 2 month old mice
- maximum amplitude of a-wave reduced in response to highest flash intensities in 2 month old mice

abnormal retinal ganglion layer morphology
- exhibits intracellular edema

abnormal retinal inner nuclear layer morphology
- exhibits intracellular edema

abnormal retinal layer morphology
- layer is disorganized with a reduction in synaptic complexes
- layer is thinner than in control littermates

abnormal retinal neuronal layer morphology

abnormal retinal outer plexiform layer morphology

abnormal retinal vasculature morphology
- Background Sensitivity - in a segregating C57BL/6 and CAST background retinal vessel tortuosity is highly variable
- leakage from the vasculature in the perioptic disc region in 25% of mice as determined by fluorescein angiography
- retinal vessel tortuosity and increase in number of retinal vessels

abnormal vitreous body morphology
- bilateral pigmented or non-pigmented vitreal masses
- bundles of axons and thick walled blood vessels observed in peripheral vitreous

disorganized retinal ganglion layer
- appears disorganized

disorganized retinal outer plexiform layer
- layer is disorganized with a reduction in synaptic complexes

thin retinal inner nuclear layer
- thinning of layer observed with aging

thin retinal outer plexiform layer
- layer is thinner than in control littermates

vitreal fibroplasia

vitreous body deposition
- exhibits fibrous tissue in the vitreous body that appears cobweb or veil-like

cardiovascular system phenotype

abnormal myocardium layer morphology
- lesions observed in the left and right atria and ventricles
- myocardium exhibits mild to moderate areas of cardiomyocyte degeneration with mycytolysis, necrosis and interstitial fibrosis in 5 month old mice

abnormal retinal vasculature morphology
- Background Sensitivity - in a segregating C57BL/6 and CAST background retinal vessel tortuosity is highly variable
- leakage from the vasculature in the perioptic disc region in 25% of mice as determined by fluorescein angiography
- retinal vessel tortuosity and increase in number of retinal vessels

dilated cardiomyopathy
- adult onset

growth/size/body region phenotype

decreased body size

homeostasis/metabolism phenotype

increased circulating creatinine level
- four-fold higher compared to control

References

Additional - Large1^vls 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
Citation
When using the B6.CAST(Cg)-Large1^vls/Pjn mouse strain in a publication, please cite the originating article(s) and include JAX stock #005350 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

B6 (Low)

Pricing & Availability

Availability Varies

Domestic
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Live Mouse

Age

Genotype

Price

weeks

Breeder Pair

Sex

Genotype

Price

Female
Male

Cryorecovery - Pricing

Service	Genotype	Price
	Please inquire

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.

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Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Large1vls

Allele Symbol: Large1vls

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: Large1vls related

Mammalian Phenotype Terms by Genotype

Genotype: Large1vls/Large1vlsB6.CAST(Cg)-Large1/Pjn

behavior/neurological phenotype

muscle phenotype

vision/eye phenotype

cardiovascular system phenotype

growth/size/body region phenotype

homeostasis/metabolism phenotype

References

Additional - Large1vls related

Genotyping Protocols

Breeding Considerations

Appearance

Citation

Animal Health Reports

Live Mouse

Breeder Pair

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

Large1^vls

Allele Symbol: Large1^vls

Genotype: Large1^vls related

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

Additional - Large1^vls related