Overview

Also Known As:NMF375

These mice carry an ENU-induced mutation and exhibit abnormal hind limb movement.

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

Usp14^nmf375

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU) (Hypomorph)	Usp14	ubiquitin specific peptidase 14

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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 hind limbs of mutants appear to be weak, lag behind during movement or show intermittent spasms, which may extend or contract the leg; front limbs might also show intermittent spasms. When picked up by their tail, the hind limbs of these mutants remain together. These mutants are also smaller than their unaffected littermates, and their hind quarters can appear wasted. The phenotype becomes apparent at 3 weeks of age (average, +/- 0.5 weeks; n=34). Brain and spinal cord histology performed on four mutants (40, 80, 86 or 113 days of age) showed dystrophic axons in the spinal cord of the youngest, and degeneration of the spinal cord white matter and dystrophic axons in the brain stem of the oldest mutant. The colony needs to be maintained through ovarian transplants.

Development

The nmf375 mutation was identified in the progeny of an ENU mutagenized C57BL/6J male in the neuroscience mutagenesis facility at The Jackson Laboratory. This mutation was maintained by backcross-intercross breeding, crossing a homozygous male to a BALB/cByJ female and then sibling intercrossing the obligate heterozygous offspring. In 2006 sperm was cryopreserved from a heterozygous male that was at generation N3F1.

Control Suggestions

+/? from the colony

Additional Information

Considerations for Choosing Controls

Genetics

Usp14^nmf375

Allele Symbol: Usp14^nmf375

Allele Name	neuroscience mutagenesis facility, 375
Allele Type	Chemically induced (ENU) (Hypomorph)
Allele Synonym(s)	NMF375
Gene Symbol and Name	Usp14, ubiquitin specific peptidase 14
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	18
Molecular Note	ENU mutagenesis induced a T to C transition in position 4 of the splice site donor region of intron 9. Western blot anlaysis confirmed the absence of protein expression in the spinal cord without the detection of truncated proteins. Authors state that this allele is hypomorphic based on phenotypic analysis.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

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: Usp14^nmf375/Usp14^nmf375
C.B6-Usp14

behavior/neurological phenotype

abnormal mechanical nociception
- increased threshold at 4 to 6 weeks

impaired coordination
- on a rotarod at 10 to 12 weeks

muscle phenotype

muscle weakness

nervous system phenotype

abnormal neuromuscular synapse morphology
- large accumulations of neurofilaments at the nerve terminals at 10 to 12 weeks

abnormal nervous system physiology
- mice exhibit normal Purkinje cell axon morphology and paired pulse facilitation

growth/size/body region phenotype

decreased body size
- by 4 weeks
- Normal - however, mice continue to gain weight over time

decreased body weight
- Normal - however, mice continue to gain weight over time

mammalian phenotype

behavior/neurological phenotype
- Normal - unlike Usp14^ax-J homozygotes, mice exhibit normal baseline locomotion

nervous system phenotype
- Normal - mice exhibit normal Purkinje cell axon morphology and paired pulse facilitation

muscle phenotype
- Normal - mice exhibit normal cross-sectional muscle fiber area

mortality/aging

premature death
- Background Sensitivity - mice on a congenic BALB/c background die by 50 weeks unlike mice on a pseudocongenic C57BL/6J background which die at or before birth

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

Genotype: Usp14^nmf375/Usp14^nmf375
B6;CByJ-Usp14/J

behavior/neurological phenotype

paraparesis
- homozygous mice exhibit weakness of the hindlimbs, which lag behind during locomotion

limb grasping
- when lifted by the tail, a mutant mouse keeps its hindlimbs together

growth/size/body region phenotype

decreased body size
- homozygous mutant mice are smaller than unaffected littermates

muscle phenotype

muscle spasm
- intermittent spasms of the hindlimbs that may either extend or contract the limb; some mutant mice also experience intermittent spasms of the forelimbs

muscle degeneration
- some mutant mice exhibit apparent wasting of the hindquarters

nervous system phenotype

axonal dystrophy
- histologic analysis of the brains and spinal cords of four mutant mice aged 40, 80, 86 and 113 days revealed dystrophic axons in the spinal cord of the youngest mouse and degeneration of the white matter of the spinal cord of the oldest mouse
- histologic analysis of the brains and spinal cords of four mutants aged 40, 80, 86 and 113 days revealed axonal dystrophy in the brainstem of the oldest mouse

abnormal brainstem morphology
- histologic analysis of the brains and spinal cords of four mutants aged 40, 80, 86 and 113 days revealed axonal dystrophy in the brainstem of the oldest mouse

abnormal spinal cord morphology
- histologic analysis of the brains and spinal cords of four mutant mice aged 40, 80, 86 and 113 days revealed dystrophic axons in the spinal cord of the youngest mouse and degeneration of the white matter of the spinal cord of the oldest mouse

References

Additional - Usp14^nmf375 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Citation
When using the B6;CByJ-Usp14^nmf375/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #005750 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 nmf375

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:NMF375

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Usp14nmf375

Allele Symbol: Usp14nmf375

Disease Terms

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Usp14nmf375/Usp14nmf375C.B6-Usp14

behavior/neurological phenotype

muscle phenotype

nervous system phenotype

growth/size/body region phenotype

mammalian phenotype

mortality/aging

Genotype: Usp14nmf375/Usp14nmf375B6;CByJ-Usp14/J

behavior/neurological phenotype

growth/size/body region phenotype

muscle phenotype

nervous system phenotype

References

Additional - Usp14nmf375 related

Genotyping Protocols

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

Usp14^nmf375

Allele Symbol: Usp14^nmf375

Genotype: Usp14^nmf375/Usp14^nmf375
C.B6-Usp14

Genotype: Usp14^nmf375/Usp14^nmf375
B6;CByJ-Usp14/J

Additional - Usp14^nmf375 related