Overview

Also Known As:NMF380

These mice carry an UNU-induced mutation at the Agrn locus and exhibit neuromuscular dysfunction. These mice may be useful in studies relating to congenital myasthenic syndromes (CMS).

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

Agrn^nmf380

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Agrn	agrin

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Research Applications

Neurobiology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

The mutants are small, their hind limbs appear to be too weak to carry the weight and remain low during movement; the mice also show intense body tremor during movement and at rest. Toes, especially those of hind paws might not be fully extended, and hind limbs might move together; brief spasms of hind or front limbs can also be observed. Although their mobility is impaired, female mutants move around quite well, males appear to be affected more severely. When lifting the mice by their tail, hind limbs remain clasped to the body; the on-set of the phenotype is at 2 weeks (average 2.1 +/- 0.57 weeks of age; n=77). Standard pathology work-up on three mutants (27 - 34 days of age) revealed neurogenic myopathy with small and regenerating muscle fibers. These mutants are fragile and need special care to live beyond 6 weeks of age; a colony has to be maintained through ovarian transplants.

Development

This phenotypic deviant was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males (Stock No. 000664), in the Neuroscience Mutagenesis facility at The Jackson Laboratory. Mutagenized males were crossed to C57BL/6J females; G3 descendants of the mutagenized males were selected for neurological impairment.

Control Suggestions

+/? untyped from the colony

Additional Information

Considerations for Choosing Controls

Selected References

Bogdanik LP; Burgess RW. 2011. A valid mouse model of AGRIN-associated congenital myasthenic syndrome. Hum Mol Genet 20(23):4617-33PubMed: 21890498 MGI: J:176117

View All References

Genetics

Agrn^nmf380

Allele Symbol: Agrn^nmf380

Allele Name	neuroscience mutagenesis facility, 380
Allele Type	Chemically induced (ENU)
Allele Synonym(s)	NMF380
Gene Symbol and Name	Agrn, agrin
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	4
Molecular Note	This phenotypic mutation was identified in an ENU mutagenesis screen. The molecular mutation is an A to G conversion, resulting in the change of phenylalanine 1061 to serine (F1061S, numbered according to the SN form of the protein) in the SEA domain of 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).

congenital myasthenic syndrome 8

Research Areas By Phenotype

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

Genotype: Agrn^nmf380 related

Neurobiology Research
- Neuroscience Mutagenesis Facility Strain

Mammalian Phenotype Terms by Genotype

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

Genotype: Agrn^nmf380/Agrn^nmf380
involves: C57BL/6J * FVB/N

mortality/aging

premature death
- mice exhibit the same reduction in lifespan as on a coisogenic C57BL/6J background

nervous system phenotype

abnormal neuromuscular synapse morphology
- mice exhibit the same degradation of neuromuscular junction (onset and progression) as on a coisogenic C57BL/6J background

Genotype: Agrn^nmf380/Agrn^nmf380
involves: C57BL/6J * DBA

mortality/aging

premature death
- mice exhibit the same reduction in lifespan as on a coisogenic C57BL/6J background

muscle phenotype

skeletal muscle atrophy
- Background Sensitivity - more severe on a C57BL/6J or DBA background than on other backgrounds

nervous system phenotype

abnormal neuromuscular synapse morphology
- mice exhibit the same degradation of neuromuscular junction (onset and progression) as on a coisogenic C57BL/6J background

Genotype: Agrn^nmf380/Agrn^nmf380
involves: BALB/c * C57BL/6J

mortality/aging

premature death
- mice exhibit the same reduction in lifespan as on a coisogenic C57BL/6J background

nervous system phenotype

abnormal neuromuscular synapse morphology
- mice exhibit the same degradation of neuromuscular junction (onset and progression) as on a coisogenic C57BL/6J background

Genotype: Agrn^nmf380/Agrn^nmf380
involves: C57BL/6J * CAST

mammalian phenotype

mortality/aging
- Normal - unlike on other backgrounds, mice survive for over a year

muscle phenotype
- Background Sensitivity - unlike on other backgrounds, mice do not exhibit significant muscle atrophy

nervous system phenotype

abnormal neuromuscular synapse morphology
- neuromuscular junctions are abnormally shaped comapred to in wild-type mice
- Background Sensitivity - severity of neuromuscular junction degradation is reduced compared to in mice on a coisogenic C57BL/6J background

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

Genotype: Agrn^nmf380/Agrn^nmf380
C57BL/6J-Agrn/J

behavior/neurological phenotype

abnormal motor capabilities/coordination/movement
- poor hindlimb motor control

impaired limb coordination
- the hind limbs of homozygous mice often move together

limb grasping
- when lifted by its tail, a mutant mouse keeps its hind limbs close to its body

paraparesis
- mutants' hind limbs appear weak, remaining low during locomotion

tremors
- homozygous mutant mice exhibit intense body tremor both during movement and when at rest

mammalian phenotype

nervous system phenotype
- Normal - mice exhibit normal axon numbers and size

mortality/aging

premature death
- mice die after a few weeks to a few months of age

muscle phenotype

abnormal skeletal muscle fiber type ratio
- at P20, mice exhibit increased type 1 slow msucle fibers in the gastrocnemius compared with wild-type mice

muscle spasm
- homozygous mutants experience brief spasms of the front and/or hind limbs

myopathy
- cross sections of axial muscle from 3 mutant mice ages 27 - 34 days revealed neurogenic myopathy; atrophied, denervated muscle fibers and small, regenerating fibers exist among normal-appearing muscle fibers

skeletal muscle atrophy
- Background Sensitivity - more severe on a C57BL/6J or DBA background than on other backgrounds

nervous system phenotype

abnormal neuromuscular synapse morphology
- diaphragm NMJs are abnormal at birth, severly affected at P4, and virtually completely degraded by P14 compared to in wild-type mice
- Normal - however, mice do not exhibit die-back neuropathy
- mice exhibit abnormal neuromuscular junctions (NMJs) morphology with smaller, simpler postsynaptic sites than in wild-type mice
- NMJ defects arise by P13 in the triangularis sterni with pre- and postsynaptic degradation at P18
- NMJ postnatal degradation varies in different muscles
- tibialis anterior NMJs are disaggregated by P14 compared to in wild-type mice

growth/size/body region phenotype

decreased body size

limbs/digits/tail phenotype

abnormal hindlimb morphology
- hindlimb atrophy

camptodactyly
- homozygotes' toes, particularly those of the hind paws, may not extend fully

References

Bogdanik LP; Burgess RW. 2011. A valid mouse model of AGRIN-associated congenital myasthenic syndrome. Hum Mol Genet 20(23):4617-33PubMed: 21890498 MGI: J:176117

Additional - Agrn^nmf380 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- black
  
  Related Genotype: a/a
Citation
When using the C57BL/6J-Agrn^nmf380/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #005469 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
	Unknown for nmf380

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

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JAX® Mice, Products & Services Conditions of Use

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Also Known As:NMF380

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Agrnnmf380

Allele Symbol: Agrnnmf380

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 Phenotype

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

Genotype: Agrnnmf380 related

Mammalian Phenotype Terms by Genotype

Genotype: Agrnnmf380/Agrnnmf380involves: C57BL/6J * FVB/N

mortality/aging

nervous system phenotype

Genotype: Agrnnmf380/Agrnnmf380involves: C57BL/6J * DBA

mortality/aging

muscle phenotype

nervous system phenotype

Genotype: Agrnnmf380/Agrnnmf380involves: BALB/c * C57BL/6J

mortality/aging

nervous system phenotype

Genotype: Agrnnmf380/Agrnnmf380involves: C57BL/6J * CAST

mammalian phenotype

nervous system phenotype

Genotype: Agrnnmf380/Agrnnmf380C57BL/6J-Agrn/J

behavior/neurological phenotype

mammalian phenotype

mortality/aging

muscle phenotype

nervous system phenotype

growth/size/body region phenotype

limbs/digits/tail phenotype

References

Additional - Agrnnmf380 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

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

Agrn^nmf380

Allele Symbol: Agrn^nmf380

Genotype: Agrn^nmf380 related

Genotype: Agrn^nmf380/Agrn^nmf380
involves: C57BL/6J * FVB/N

Genotype: Agrn^nmf380/Agrn^nmf380
involves: C57BL/6J * DBA

Genotype: Agrn^nmf380/Agrn^nmf380
involves: BALB/c * C57BL/6J

Genotype: Agrn^nmf380/Agrn^nmf380
involves: C57BL/6J * CAST

Genotype: Agrn^nmf380/Agrn^nmf380
C57BL/6J-Agrn/J

Additional - Agrn^nmf380 related