| |||||||||||||||
| Mice that are homozygous for this Tbce, tubulin-specific chaperone e, spontaneous mutation, pmn, are viable but die prematurely. Onset of progressive atrophy and paralysis occurs at 2 to 3 weeks of age. Homozygotes die by 6 to 7 weeks of age due to respiratory failure. Neurodegeneration starts in the motor endplates, progresses to loss of axons and results in apoptosis of the cell bodies. This mutant mouse strain may be useful in studies of Spinal Muscular Atrohpy, muscular atrophy, motor neuronopathy and neurodegeneration. | |||||||||||||||
- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
Strain Information
Former Names STOCK Tbcepmn/J (Changed: 08-FEB-11 ) Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Mating System See Colony Maintenance under the Health & husbandry tab (Female x Male) 26-JUL-11 Species laboratory mouse Generation F?+F1 (17-NOV-11)
Generation DefinitionsDescription
Mice that are homozygous for this spontaneous mutation are viable but die prematurely. Onset of locomotor impairment with corresponding motor neuron and muscular degeneration occurs at 2 to 3 weeks of age. Atrophy and paralysis starts in the hind limbs and pelvic girdle and is progressive. Homozygotes die by 6 to 7 weeks of age due to respiratory failure. Neurodegeneration starts in the motor endplates, progresses to loss of axons and results in apoptosis of the cell bodies. Electrophysiological deficiencies are detected by 13 days of age, before the neurodegeneration is clinically visible. Electron microscopic analysis of sciatic and phrenic nerves reveals a reduced number of microtubules. TBCE protein is destabilized, producing a reduction in tubulin and microtubules in motor neuron axons. Progressive microtubule loss occurs in axons distal to proximal and corresponds to axon degeneration. The mutation arose in the NMRI/Pan outbred line and has been identified as a Trp524Gly substitution (T1570G transversion) of the Tbce, tubulin-specific chaperone e, gene. Heterozygotes are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This mutant mouse strain may be useful in studies of Spinal Muscular Atrohpy, muscular atrophy, motor neuronopathy and neurodegeneration.Development
The mutation was first recorded at the Panum Institute (Kopenhagen, Denmark) in 1988. The mutation arose in the NMRI/Pan outbred line and has been identified as a Trp524Gly substitution of the Tbce (tubulin-specific chaperone e) gene. The donating investigator reports that these Tbcepmn mutant mice were bred onto the NMRI outbred background for 32 generations, and then Tbcepmn heterozygous males were sent to The Jackson Laboratory Repository. Upon arrival, sperm was cryopreserved from some of these Tbcepmn heterozygous mice. To rederive a living colony on the NMRI genetic background, heterozygous sperm was used to fertilize oocytes from NMRI/Gat-Tg(MGMT)3Bec/J mice (Stock No. 003076). The resulting double mutant mice will be bred together (and the Tg(MGMT)3Bec selectively bred away) to establish the Tbcepmn colony.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Spinal Muscular Atrophy (SMA) Models
View Spinal Muscular Atrophy (SMA) Models (42 strains)
Additional Web Information
Reference Guide to Mouse Models of Spinal Muscular Atrophy manual [.pdf]
Visit the Spinal Muscular Atrophy (SMA) Mouse Model Resource site for helpful information on SMA Disease and research resources.
Phenotype
Phenotype Information
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Tbcepmn/Tbcepmn
NMRI/Pan
- mortality/aging
- premature death
- muscle phenotype
- muscular atrophy
- progressive muscle weakness
- nervous system phenotype
- abnormal facial nerve morphology
- loss of motor axons here is reduced by ciliary neutrophic factor (CNTF) delivered via an engineered CNTF construct in tranfected mouse D3 cells (MGI Ref ID J:1717)
- abnormal phrenic nerve morphology
- axon degeneration
- the motor, but not the sensory, axons of the peripheral nerves degenerate, starting at the motor endplates and dying back proximally (MGI Ref ID J:30914)
- motor neuron degeneration
- progressive caudo-cranial degeneration (MGI Ref ID J:1717)
- respiratory system phenotype
- respiratory failure (MGI Ref ID J:1717)
- mice die of respiratory failure by 6-7 weeks of age (MGI Ref ID J:30914)
- behavior/neurological phenotype
- paralysis
- detectable by 2-3 weeks of age (MGI Ref ID J:30914)
This mouse can be used to support research in many areas including:
Neurobiology Research
Neurodegeneration
Spinal Muscular Atrophy (SMA)
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Tbcepmn | ||
|---|---|---|---|
| Allele Name | progressive motor neuronopathy | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | TbceG; pmn; progressive motor neuropathy; | ||
| Mutation Made By | Michael Sendtner, University of Wuerzburg | ||
| Strain of Origin | NMRI/Pan | ||
| Gene Symbol and Name | Tbce, tubulin-specific chaperone E | ||
| Chromosome | 13 | ||
| Gene Common Name(s) | 2610206D02Rik; C530005D02Rik; HRD; KCS; KCS1; RIKEN cDNA 2610206D02 gene; RIKEN cDNA C530005D02 gene; pac2; pmn; progressive motor neuropathy; | ||
| General Note | This mutation was identified in 1988 at the Panum Institute in Copenhagen. | ||
| Molecular Note | The mutation has been identified as T to G transversion, resulting in a Trp524Gly amino acid substitution in the encoded protein. Northern analysis detected no difference in transcript levels between mutant and wild-type mice. That the mutation was duea defect in Tbce was demonstrated through complementation with a line expressing a Tbce transgene. [MGI Ref ID J:79895] [MGI Ref ID J:80606] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Tg(MGMT), Standard PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Schmalbruch H; Jensen HJ; Bjaerg M; Kamieniecka Z; Kurland L. 1991. A new mouse mutant with progressive motor neuronopathy. J Neuropathol Exp Neurol 50(3):192-204. [PubMed: 2022963] [MGI Ref ID J:30914]
Additional References
Tbcepmn relatedBommel H; Xie G; Rossoll W; Wiese S; Jablonka S; Boehm T; Sendtner M. 2002. Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease. J Cell Biol 159(4):563-9. [PubMed: 12446740] [MGI Ref ID J:80606]
Bordet T; Schmalbruch H; Pettmann B; Hagege A; Castelnau-Ptakhine L; Kahn A; Haase G. 1999. Adenoviral cardiotrophin-1 gene transfer protects pmn mice from progressive motor neuronopathy. J Clin Invest 104(8):1077-85. [PubMed: 10525046] [MGI Ref ID J:58103]
Duong F; Fournier J; Keane PE; Guenet JL; Soubrie P; Warter JM; Borg J; Poindron P. 1998. The effect of the nonpeptide neurotrophic compound SR 57746A on the progression of the disease state of the pmn mouse. Br J Pharmacol 124(4):811-7. [PubMed: 9690875] [MGI Ref ID J:50995]
Ferrer-Alcon M; Winkler-Hirt C; Madani R; Perrin FE; Kato AC. 2008. Low intensity exercise attenuates disease progression and stimulates cell proliferation in the spinal cord of a mouse model with progressive motor neuronopathy. Neuroscience 152(2):291-5. [PubMed: 18295408] [MGI Ref ID J:135700]
Ferrer-Alcon M; Winkler-Hirt C; Perrin FE; Kato AC. 2007. Grafted neural stem cells increase the life span and protect motoneurons in pmn mice. Neuroreport 18(14):1463-8. [PubMed: 17712275] [MGI Ref ID J:125209]
Ferri A; Sanes JR; Coleman MP; Cunningham JM; Kato AC. 2003. Inhibiting axon degeneration and synapse loss attenuates apoptosis and disease progression in a mouse model of motoneuron disease. Curr Biol 13(8):669-73. [PubMed: 12699624] [MGI Ref ID J:82989]
Frey D; Schneider C; Xu L; Borg J; Spooren W; Caroni P. 2000. Early and selective loss of neuromuscular synapse subtypes with low sprouting competence in motoneuron diseases. J Neurosci 20(7):2534-42. [PubMed: 10729333] [MGI Ref ID J:109472]
Haase G; Kennel P; Pettmann B; Vigne E; Akli S; Revah F; Schmalbruch H ; Kahn A. 1997. Gene therapy of murine motor neuron disease using adenoviral vectors for neurotrophic factors [see comments] Nat Med 3(4):429-36. [PubMed: 9095177] [MGI Ref ID J:39440]
Haase G; Pettmann B; Vigne E; Castelnau-Ptakhine L; Schmalbruch H; Kahn A. 1998. Adenovirus-mediated transfer of the neurotrophin-3 gene into skeletal muscle of pmn mice: therapeutic effects and mechanisms of action. J Neurol Sci 160 Suppl 1:S97-105. [PubMed: 9851658] [MGI Ref ID J:51340]
Haenggeli C; Kato AC. 2002. Differential vulnerability of cranial motoneurons in mouse models with motor neuron degeneration. Neurosci Lett 335(1):39-43. [PubMed: 12457737] [MGI Ref ID J:131493]
Holtmann B; Zielasek J; Toyka KV; Sendtner M. 1999. Comparative analysis of motoneuron loss and functional deficits in PMN mice: implications for human motoneuron disease. J Neurol Sci 169(1-2):140-7. [PubMed: 10540023] [MGI Ref ID J:58379]
Jablonka S; Holtmann B; Sendtner M; Metzger F. 2011. Therapeutic effects of PEGylated insulin-like growth factor I in the pmn mouse model of motoneuron disease. Exp Neurol 232(2):261-9. [PubMed: 21963648] [MGI Ref ID J:178470]
Kennel P; Revah F; Bohme GA; Bejuit R; Gallix P; Stutzmann J; Imperato A; Pratt J. 2000. Riluzole prolongs survival and delays muscle strength deterioration in mice with progressive motor neuronopathy (pmn) J Neurol Sci 180(1-2):55-61. [PubMed: 11090865] [MGI Ref ID J:66163]
Kennel PF; Fonteneau P; Martin E; Schmidt JM; Azzouz M; Borg J; Guenet JL; Schmalbruch H; Warter JM; Poindron P. 1996. Electromyographical and motor performance studies in the pmn mouse model of neurodegenerative disease. Neurobiol Dis 3(2):137-47. [PubMed: 9173921] [MGI Ref ID J:43329]
Kretschmannova K; Zemkova H. 2004. Characterization of neuromuscular transmission in mice with progressive motoneuronopathy. Physiol Res 53(5):541-8. [PubMed: 15479133] [MGI Ref ID J:118746]
Martin N; Jaubert J; Gounon P; Salido E; Haase G; Szatanik M; Guenet JL. 2002. A missense mutation in Tbce causes progressive motor neuronopathy in mice. Nat Genet 32(3):443-7. [PubMed: 12389029] [MGI Ref ID J:79895]
Moos T. 1995. Increased accumulation of transferrin by motor neurons of the mouse mutant progressive motor neuronopathy (pmn/pmn). J Neurocytol 24(5):389-98. [PubMed: 7650542] [MGI Ref ID J:26671]
Perrin FE; Boisset G; Lathuiliere A; Kato AC. 2006. Cell death pathways differ in several mouse models with motoneurone disease: analysis of pure motoneurone populations at a presymptomatic age. J Neurochem 98(6):1959-72. [PubMed: 16831193] [MGI Ref ID J:112591]
Sagot Y; Dubois-Dauphin M; Tan SA; de Bilbao F; Aebischer P; Martinou JC; Kato AC. 1995. Bcl-2 overexpression prevents motoneuron cell body loss but not axonal degeneration in a mouse model of a neurodegenerative disease. J Neurosci 15(11):7727-33. [PubMed: 7472523] [MGI Ref ID J:29787]
Sagot Y; Rosse T; Vejsada R; Perrelet D; Kato AC. 1998. Differential effects of neurotrophic factors on motoneuron retrograde labeling in a murine model of motoneuron disease. J Neurosci 18(3):1132-41. [PubMed: 9437033] [MGI Ref ID J:45539]
Sagot Y; Tan SA; Baetge E; Schmalbruch H; Kato AC; Aebischer P. 1995. Polymer encapsulated cell lines genetically engineered to release ciliary neurotrophic factor can slow down progressive motor neuronopathy in the mouse. Eur J Neurosci 7(6):1313-22. [PubMed: 7582105] [MGI Ref ID J:30394]
Sagot Y; Tan SA; Hammang JP; Aebischer P; Kato AC. 1996. GDNF slows loss of motoneurons but not axonal degeneration or premature death of pmn/pmn mice. J Neurosci 16(7):2335-41. [PubMed: 8601813] [MGI Ref ID J:32067]
Schaefer MK; Schmalbruch H; Buhler E; Lopez C; Martin N; Guenet JL; Haase G. 2007. Progressive motor neuronopathy: a critical role of the tubulin chaperone TBCE in axonal tubulin routing from the Golgi apparatus. J Neurosci 27(33):8779-89. [PubMed: 17699660] [MGI Ref ID J:124178]
Schmalbruch H; Jensen HJS. 1990. 'Progressive motor neuropathy' (pmn), a new neurological mutant in the mouse. Mouse Genome 87:113. [MGI Ref ID J:14295]
Sedehizade F; Klocke R; Jockusch H. 1997. Expression of nerve-regulated genes in muscles of mouse mutants affected by spinal muscular atrophies and muscular dystrophies. Muscle Nerve 20(2):186-94. [PubMed: 9040657] [MGI Ref ID J:53205]
Sendtner M; Gotz R; Holtmann B; Thoenen H. 1997. Endogenous ciliary neurotrophic factor is a lesion factor for axotomized motoneurons in adult mice. J Neurosci 17(18):6999-7006. [PubMed: 9278535] [MGI Ref ID J:42884]
Sendtner M; Schmalbruch H; Stockli KA; Carroll P; Kreutzberg GW; Thoenen H. 1992. Ciliary neurotrophic factor prevents degeneration of motor neurons in mouse mutant progressive motor neuronopathy [see comments] Nature 358(6386):502-4. [PubMed: 1641039] [MGI Ref ID J:1717]
Simonin Y; Charron Y; Sonderegger P; Vassalli JD; Kato AC. 2006. An inhibitor of serine proteases, neuroserpin, acts as a neuroprotective agent in a mouse model of neurodegenerative disease. J Neurosci 26(41):10614-9. [PubMed: 17035547] [MGI Ref ID J:113248]
Simonin Y; Ferrer-Alcon M; Ferri A; Kato AC. 2007. The neuroprotective effects of the WldS gene are correlated with proteasome expression rather than apoptosis. Eur J Neurosci 25(8):2269-74. [PubMed: 17445225] [MGI Ref ID J:125019]
Simonin Y; Perrin FE; Kato AC. 2007. Axonal involvement in the Wlds neuroprotective effect: analysis of pure motoneurons in a mouse model protected from motor neuron disease at a pre-symptomatic age. J Neurochem 101(2):530-42. [PubMed: 17402973] [MGI Ref ID J:122486]
Health & husbandry
Health & Colony Maintenance Information
Colony Maintenance
Breeding & Husbandry When maintaining a live colony, these mice can be bred as heterozygotes. Homozygotes are viable but die by 6 to 7 weeks of age. Mating System See Colony Maintenance under the Health & husbandry tab (Female x Male) 26-JUL-11
Purchasing information
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
|
 |
Live Mice
Price (US dollars $) Gender Genotypes Provided Individual Mouse $261.00 Female or Male Heterozygous for Tbcepmn
Pairs /Price (US dollars $) Pair Genotype $321.00 Heterozygous for Tbcepmn x Wild-type for Tbcepmn $321.00 Wild-type for Tbcepmn x Heterozygous for Tbcepmn Standard Supply
Repository-Live. The Repository Strains represent an exclusive set of over 1500 unique mouse models maintained at The Jackson Laboratory to support a vast array of research areas. The breeding colonies for Repository Strains provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. We treat orders for these strains as custom orders. Within 2 business days, we respond to each availability inquiry or order with various delivery options. Repository Strains typically are delivered at 4 to 8 weeks of age and will not exceed 12 weeks of age on the day of shipping.
| Pricing for International shipping destinations |
|
|
Live Mice
Price (US dollars $) Gender Genotypes Provided Individual Mouse $339.30 Female or Male Heterozygous for Tbcepmn
Pairs /Price (US dollars $) Pair Genotype $417.30 Heterozygous for Tbcepmn x Wild-type for Tbcepmn $417.30 Wild-type for Tbcepmn x Heterozygous for Tbcepmn Standard Supply
Repository-Live. The Repository Strains represent an exclusive set of over 1500 unique mouse models maintained at The Jackson Laboratory to support a vast array of research areas. The breeding colonies for Repository Strains provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. We treat orders for these strains as custom orders. Within 2 business days, we respond to each availability inquiry or order with various delivery options. Repository Strains typically are delivered at 4 to 8 weeks of age and will not exceed 12 weeks of age on the day of shipping.
|
|
|
Standard Supply
Repository-Live. The Repository Strains represent an exclusive set of over 1500 unique mouse models maintained at The Jackson Laboratory to support a vast array of research areas. The breeding colonies for Repository Strains provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. We treat orders for these strains as custom orders. Within 2 business days, we respond to each availability inquiry or order with various delivery options. Repository Strains typically are delivered at 4 to 8 weeks of age and will not exceed 12 weeks of age on the day of shipping.
General Supply Notes
- This strain is included in the Mouse Mutant Resource collection.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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.
See Terms of Use tab for General Terms and Conditions
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.Ordering Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form
Terms of Use
Terms of Use
General Terms and Conditions
Contact information
General inquiriesContracts Administration
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
JAX® Mice, Products & Services Conditions of Use
"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.No Warranty
MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.
In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.
No Liability
In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.
MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.
The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.
Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.