Overview

Also Known As:nmf223

These mice carry an ENU-induced mutation characterized by retinal vasculopathy.

The Jackson Laboratory cannot guarantee that cryorecovery of strains from the discontinued NIH-funded Neuroscience Mutagenesis Facility (NMF) will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.

Genetic overview

Genetic Background	Generation

Lama1^nmf223

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Lama1	laminin, alpha 1

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Research Applications

Sensorineural Research
Developmental Biology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Homozygotes have retinal vasculopathy, characterized by vitreal fibroplasias and vessel tortuosity. There is thinning of the peripheral inner nuclear layer and variable cell loss in the retinal ganglion cell layer, along with reduced dark and light adapted electroretinogram amplitudes. There is abnormal migration of retinal astrocytes into the vitreous and the persistence of hyaloid vaculature. While targeted disruption of the alpha 1 laminin gene causes a more severe phenotype, including the absence of the inner limiting membrane, this hypomorph nevertheless displays ectopic cells and blood vessels within the vitreous indicative of reduced integrity of the inner limiting membrane.

Development

A C57BL/6J male treated with N-ethyl-N-nitrosourea was bred with a C57BL/6J female, a resulting F1 male was backcrossed to C57BL/6J females from which an N2 female offspring was backcrossed to the F1 male parent to generate a population expressing the captured recessive mutations. From this population nmf223 was identified and kept on the C57BL/6J background. In 2004 embryos were generated for cryopreservation via in vitro fertilization using C57BL/6J females and a homozygous male at generation N3F1.

Selected References

Shimada N; Ohno-Matsui K; Iseki S; Koike M; Uchiyama Y; Wang J; Yoshida T; Sato T; Peters C; Mochizuki M; Morita I. 2010. Cathepsin L in bone marrow-derived cells is required for retinal and choroidal neovascularization. Am J Pathol 176(5):2571-80PubMed: 20304958 MGI: J:160772

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Genetics

Lama1^nmf223

Allele Symbol: Lama1^nmf223

Allele Name	neuroscience mutagenesis facility, 223
Allele Type	Chemically induced (ENU)
Allele Synonym(s)
Gene Symbol and Name	Lama1, laminin, alpha 1
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	17
Molecular Note	An A to G missense mutation results in a tyrosine to cysteine mutation at the highly conserved amino acid 265, which lies in the end of the N-terminal domain.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Lama1^nmf223 related

Sensorineural Research
- Retinal Degeneration
  - retinal spots
- Eye Defects
Developmental Biology Research
- Defects in Extracellular Matrix Molecules

Mammalian Phenotype Terms by Genotype

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

Genotype: Lama1^nmf223/Lama1^nmf223
C57BL/6J-Lama1/J

cardiovascular system phenotype

abnormal retinal blood vessel pattern
- hypervascularization of the retina as early as 3 weeks of age

abnormal retinal blood vessel morphology

abnormal retinal vasculature morphology
- vascular tortuosity of the retina as early as 3 weeks of age

vision/eye phenotype

thin retinal inner nuclear layer
- although the central retina remains normal in thickness even at 18 months of age, there is a reduction in the number of cells in the peripheral inner nuclear layer appearing between 8 and 12 weeks of age and progressing slowly until approximately 1 year of age
- f age

abnormal vitreous body morphology
- ectopic cells that appear to be astrocytes and retinal ganglion cells are found in the vitreous

persistence of hyaloid vascular system
- e retinas still lack a normal retinal primary plexus and the larger, primary plexus-like vessels are found within the vitreous rather than the retinas
- between birth and 1 day of age the astrocytes that nromally extend in a honeycomb pattern across the developing retina instead condense around the optic disc and many appear to lie within the vitreous and associate with the hyaloid vessels, at 7 days of age most blood vessels are observed in the vitreous rather than the retinas and some hyaloid vessels begin to bud rather than regress at this stage, at 10 days of age most of the larger vessels in the retinas are of hyaloid origin, and at 21 days of age the retinas still lack a normal retinal primary plexus and the larger, primary plexus-like vessels are found within the vitreous rather than the retinas
- ge most blood vessels are observed in the vitreous rather than the retinas and some hyaloid vessels begin to bud rather than regress at this stage, at 10 days of age most of the larger vessels in the retinas are of hyaloid origin, and at 21 days of age th

abnormal Muller cell morphology
- in some cases Muller cell end-feet are found to protrude into the vitreous

thin retinal ganglion layer
- at 12 weeks of age approximately 20% of homozygotes have a loss of cells in the peripheral area of the retinal ganglion cell layer and by 9 months of age this is found in 80% of homozygotes

vitreal fibroplasia
- vitreal fibroplasia presents as cobweb-like material covering the retina at 8 weeks of age

abnormal eye electrophysiology
- ties for dark adapted homozygotes
- dark and light adapted electroretinogram testing at 6.5 months, 8.5 months, and one year of age reveals waveforms that are comparable with wild-type controls but of reduced amplitude with both alpha and beta waves reduced consistently across flash intensities for dark adapted homozygotes

abnormal retinal blood vessel pattern
- hypervascularization of the retina as early as 3 weeks of age

abnormal retina inner limiting membrane morphology
- at 2 days of age electron microscopy shows the inner limiting membrant to be normal in some areas but absent or severely attenuated in others

abnormal retinal blood vessel morphology

abnormal retinal vasculature morphology
- vascular tortuosity of the retina as early as 3 weeks of age

abnormal ocular fundus morphology
- ophthalmoscopy as early as 3 weeks of age shows small white retinal spots, vitreal fibroplasia, and vessel tortuosity, and fluorescein angiography shows hypervascularization of the retina

abnormal retina morphology

retinal spots
- ophthalmoscopy as early as 3 weeks of age shows small white retinal spots

nervous system phenotype

abnormal Muller cell morphology
- in some cases Muller cell end-feet are found to protrude into the vitreous

References

Shimada N; Ohno-Matsui K; Iseki S; Koike M; Uchiyama Y; Wang J; Yoshida T; Sato T; Peters C; Mochizuki M; Morita I. 2010. Cathepsin L in bone marrow-derived cells is required for retinal and choroidal neovascularization. Am J Pathol 176(5):2571-80PubMed: 20304958 MGI: J:160772

Additional - Lama1^nmf223 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- black
  Associated Genotype: a/a
Citation
When using the nmf223 mouse strain in a publication, please cite the originating article(s) and include JAX stock #005094 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
> >	unverified Heterozygous for Lama1<nmf223>

Related Products and Services

Frozen Mouse Embryo	C57BL/6J-Lama1<nmf223>/J Frozen Embryos	$2595.00
Frozen Mouse Embryo	C57BL/6J-Lama1<nmf223>/J Frozen Embryos	$2595.00
Frozen Mouse Embryo	C57BL/6J-Lama1<nmf223>/J Frozen Embryos	$3373.50
Frozen Mouse Embryo	C57BL/6J-Lama1<nmf223>/J Frozen Embryos	$3373.50

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.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Also Known As:nmf223

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Selected References

Lama1nmf223

Allele Symbol: Lama1nmf223

Disease Terms

Research Areas By Phenotype

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

Genotype: Lama1nmf223 related

Mammalian Phenotype Terms by Genotype

Genotype: Lama1nmf223/Lama1nmf223C57BL/6J-Lama1/J

cardiovascular system phenotype

vision/eye phenotype

nervous system phenotype

References

Additional - Lama1nmf223 related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Lama1^nmf223

Allele Symbol: Lama1^nmf223

Genotype: Lama1^nmf223 related

Genotype: Lama1^nmf223/Lama1^nmf223
C57BL/6J-Lama1/J

Additional - Lama1^nmf223 related