| |||||||||||
- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Former Names B6C3Fe-a/a-Largemyd/+ (Changed: 15-DEC-04 ) Type Mutant Stock; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N19 F1 Development
The myodystrophy mutation, Largemyd, arose spontaneously at the Jackson Laboratory in the lethal spotting strain (LS/LeJ) in 1963. The first affected male was outcrossed to a C57BL/6J female. Matings of a homozygote by heterozygote were carried out as often as possible or as heterozygous pairs. At F43 in 1977 a Largemyd homozygote was mated to a B6C3Fe-a/a hybrid and the strain was maintained by the cross intercross system to the hybrid. When this strain was at N19, it was cryopreserved by mating heterozygous females to heterozygous males to generate embryos.
Related Strains
Strains carrying Largemyd allele
000300 MYD/Le-Os +/+ Largemyd/J View Strains carrying Largemyd (1 strain)
005350 B6.CAST(Cg)-Largevls/Pjn 002491 B6.Cg-Largeenr-Tg(MpbReg)36Pop/J
Phenotype
Phenotype Information
Facioscapulohumeral Muscular Dystrophy 1A; FSHMD1A - Models with phenotypic similarity to human disease where etiologies are distinct.2 Muscular Dystrophy, Congenital, Type 1d - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).
assigned by genotype
Largemyd/Large+
involves: C3HeB/FeJLe * C57BL/6
- behavior/neurological phenotype
- limb grasping (MGI Ref ID J:27793)
- variability with respect to the severity of clasping hind limbs
Largemyd/Largemyd
involves: C3HeB/FeJLe * C57BL/6
- muscle phenotype
- abnormal skeletal muscle fiber morphology (MGI Ref ID J:27793)
- myopathy (MGI Ref ID J:27793)
- foci of degeneration typically large and involving 20-50 fibers
- myositis (MGI Ref ID J:27793)
- accompanies myocyte necrosis
- immune system phenotype
- myositis (MGI Ref ID J:27793)
- accompanies myocyte necrosis
- hearing/vestibular/ear phenotype
- decreased brainstem auditory evoked potential (MGI Ref ID J:27793)
- prolonged interpeak latencies
- decreased wave IV amplitude
- mean wave IV threshold increased
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Largemyd/Largemyd
involves: STOCK Edn3ls
- life span-post-weaning/aging
- premature death (MGI Ref ID J:5670)
- average life span 17.25 weeks, range 5-39 weeks
- behavior/neurological phenotype
- abnormal gait (MGI Ref ID J:5670)
- hind limbs held close to the body producing a short, shuffling gait
- hind limbs never extended and dragged
- limb grasping (MGI Ref ID J:5670)
- involves hind limbs
- adduction of hind legs, flexion of the knee, ankles and toes
- severe contraction of hind limbs sometimes by 3-4 months of age
- muscle phenotype
- abnormal muscle morphology (MGI Ref ID J:5670)
- abnormal skeletal muscle fiber morphology (MGI Ref ID J:5670)
- variable fiber size
- loss of striation
- central migration of nuclei
- nuclear "rowing"
- muscle degeneration (MGI Ref ID J:5670)
- abnormal muscle physiology (MGI Ref ID J:5670)
- dystrophic muscle (MGI Ref ID J:144746)
- muscle calcification (MGI Ref ID J:12034)
- elevated calcium levels in skeletal muscles, particularly the diaphragm
- heart not affected
- myopathy (MGI Ref ID J:5670)
- diffuse and progressive myopathy
- widely distributed focal lesions in skeletal muscles as early as 16 days of age
- myositis (MGI Ref ID J:5670)
- mononuclear cell infiltration of areas surrounding degenerating fibers
- nervous system phenotype
- abnormal myelination (MGI Ref ID J:5974)
- areas where nerves are completely deficient in myelin
- abnormal spinal nerve morphology (MGI Ref ID J:5974)
- areas completely deficient in myelin
- not every root is affected
- observed in dorsal roots T13 to S1 and Ventral roots L1 to S1 (except L5)
- L3 and L4 ventral roots most severely affected
- absent Schwann cells (MGI Ref ID J:5974)
- usually unmyelinated nerves lack Schwann cells but sometimes Schwann cells present but lacking myelin
- growth/size phenotype
- decreased body weight (MGI Ref ID J:5670)
- organ weights reduced comparably with reduced body weigh
- postnatal growth retardation (MGI Ref ID J:5670)
- very severe at weaning
- growth improved after weaning but mice always small
- skeleton phenotype
- abnormal bone structure (MGI Ref ID J:12034)
- thinning of all bones examined
- kyphosis (MGI Ref ID J:5670)
- thoracic kyphosis by 6-8 weeks of age
- becoming progressively worse with age
- reproductive system phenotype
- reduced fertility (MGI Ref ID J:5670)
- although not sterile, reproduction is very poor
- immune system phenotype
- myositis (MGI Ref ID J:5670)
- mononuclear cell infiltration of areas surrounding degenerating fibers
- digestive/alimentary phenotype
- abnormal tongue morphology (MGI Ref ID J:5670)
- musculature of tongue not affected until later
- subepithelial fibrosis in tongues of older mice
- homeostasis/metabolism phenotype
- abnormal enzyme/coenzyme activity (MGI Ref ID J:144746)
- mice exhibit hypoglycosylation of almost all alpha-dystroglycan compared to in wild-type mice
- laminin-binding activity of alpha-dystroglycan is less than 5% of normal
Largemyd/Largemyd
B6.Cg-Largemyd/Pjn
- vision/eye phenotype
- abnormal eye electrophysiology (MGI Ref ID J:100214)
- 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 layer morphology (MGI Ref ID J:100214)
- disorganized retinal outer plexiform layer (MGI Ref ID J:100214)
- layer is disorganized with a reduction in synaptic complexes
- mitochondria are swollen with severe disruption of cristae
- exhibits extracelluelar edema
- layer is thinner than in control littermates
- thin retinal outer nuclear layer (MGI Ref ID J:100214)
- almost 50% thinner than in controls
- muscle phenotype
- abnormal cardiac muscle morphology (MGI Ref ID J:100214)
- myocardium exhibits mild to moderate areas of cardiomyocyte degeneration with mycytolysis, necrosis and interstitial fibrosis in 5 month old mice
- lesions observed in the left and right atria and ventricles
- abnormal diaphragm morphology (MGI Ref ID J:100214)
- exhibits prominent interstial fibrosis with extensive degeneration and regeneration of myofibers at 1.5 months of age
- by 4 months diaphragm exhibits necrosis and fatty infiltration
- abnormal soleus morphology (MGI Ref ID J:100214)
- occasional signs of fiber-type grouping in 6 month old mice
- dilated cardiomyopathy (MGI Ref ID J:100214)
- adult onset
- cardiovascular system phenotype
- abnormal cardiac muscle morphology (MGI Ref ID J:100214)
- myocardium exhibits mild to moderate areas of cardiomyocyte degeneration with mycytolysis, necrosis and interstitial fibrosis in 5 month old mice
- lesions observed in the left and right atria and ventricles
- dilated cardiomyopathy (MGI Ref ID J:100214)
- adult onset
This mouse can be used to support research in many areas including:Largemyd related
Neurobiology Research
Neuromuscular Defects
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Largemyd | ||
|---|---|---|---|
| Allele Name | myodystrophy | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Largemyd; fg; froggy; myd; | ||
| Strain of Origin | STOCK Edn3 | ||
| Gene Symbol and Name | Large, like-glycosyltransferase | ||
| Chromosome | 8 | ||
| Gene Common Name(s) | BPFD#36; KIAA0609; MDC1D; Mbp-1; Mbp1; enervated; enr; fg; froggy; mKIAA0609; myd; myelin basic protein transgene; myodystrophy; | ||
| Molecular Note | The mutation underlying the myodystrophy phenotype has been determined to be an intragenic deletion in the glycotransferase gene, Large. The deletion of exons 5-7 cause a frameshift and a premature stop codon before the first two catalytic domains. [MGI Ref ID J:69796] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
Genotyping
Genotyping Information
Genotyping Protocols
Largemyd, Standard PCR
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Barresi R; Michele DE; Kanagawa M; Harper HA; Dovico SA; Satz JS; Moore SA; Zhang W; Schachter H; Dumanski JP; Cohn RD; Nishino I; Campbell KP. 2004. LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med 10(7):696-703. [PubMed: 15184894] [MGI Ref ID J:91681]
Grewal PK; Hewitt JE. 2002. Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy. Biochim Biophys Acta 1573(3):216-24. [PubMed: 12417403] [MGI Ref ID J:80112]
Lane PW; Beamer TC; Myers DD. 1976. Myodystrophy, a new myopathy on chromosome 8 of the mouse. J Hered 67(3):135-8. [PubMed: 939913] [MGI Ref ID J:5670]
Largemyd relatedBarresi R; Michele DE; Kanagawa M; Harper HA; Dovico SA; Satz JS; Moore SA; Zhang W; Schachter H; Dumanski JP; Cohn RD; Nishino I; Campbell KP. 2004. LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med 10(7):696-703. [PubMed: 15184894] [MGI Ref ID J:91681]
Beedle AM; Nienaber PM; Campbell KP. 2007. Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex. J Biol Chem 282(23):16713-7. [PubMed: 17452335] [MGI Ref ID J:122734]
Court FA; Hewitt JE; Davies K; Patton BL; Uncini A; Wrabetz L; Feltri ML. 2009. A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments. J Neurosci 29(12):3908-19. [PubMed: 19321787] [MGI Ref ID J:147273]
Grewal PK; Holzfeind PJ; Bittner RE; Hewitt JE. 2001. Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Nat Genet 28(2):151-4. [PubMed: 11381262] [MGI Ref ID J:69796]
Groh S; Zong H; Goddeeris MM; Lebakken CS; Venzke D; Pessin JE; Campbell KP. 2009. Sarcoglycan complex: implications for metabolic defects in muscular dystrophies. J Biol Chem 284(29):19178-82. [PubMed: 19494113] [MGI Ref ID J:152269]
Han R; Kanagawa M; Yoshida-Moriguchi T; Rader EP; Ng RA; Michele DE; Muirhead DE; Kunz S; Moore SA; Iannaccone ST; Miyake K; McNeil PL; Mayer U; Oldstone MB; Faulkner JA; Campbell KP. 2009. Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycan. Proc Natl Acad Sci U S A 106(31):12573-9. [PubMed: 19633189] [MGI Ref ID J:152005]
Holzfeind PJ; Grewal PK; Reitsamer HA; Kechvar J; Lassmann H; Hoeger H; Hewitt JE; Bittner RE. 2002. Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders. Hum Mol Genet 11(21):2673-87. [PubMed: 12354792] [MGI Ref ID J:79438]
Kanagawa M; Michele DE; Satz JS; Barresi R; Kusano H; Sasaki T; Timpl R; Henry MD; Campbell KP. 2005. Disruption of perlecan binding and matrix assembly by post-translational or genetic disruption of dystroglycan function. FEBS Lett 579(21):4792-6. [PubMed: 16098969] [MGI Ref ID J:101333]
Kanagawa M; Nishimoto A; Chiyonobu T; Takeda S; Miyagoe-Suzuki Y; Wang F; Fujikake N; Taniguchi M; Lu Z; Tachikawa M; Nagai Y; Tashiro F; Miyazaki J; Tajima Y; Takeda S; Endo T; Kobayashi K; Campbell KP; Toda T. 2009. Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. Hum Mol Genet 18(4):621-31. [PubMed: 19017726] [MGI Ref ID J:144746]
Lane PW. 1969. Froggy (fg) renamed myd - myodystrophy Mouse News Lett 40:30. [MGI Ref ID J:64437]
Lane PW. 1974. fg changed to myd. Mouse News Lett 50:43. [MGI Ref ID J:14773]
Lane PW; Beamer TC; Myers DD. 1976. Myodystrophy, a new myopathy on chromosome 8 of the mouse. J Hered 67(3):135-8. [PubMed: 939913] [MGI Ref ID J:5670]
Lee Y; Kameya S; Cox GA; Hsu J; Hicks W; Maddatu TP; Smith RS; Naggert JK; Peachey NS; Nishina PM. 2005. Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases. Mol Cell Neurosci 30(2):160-72. [PubMed: 16111892] [MGI Ref ID J:100214]
Levedakou EN; Chen XJ; Soliven B; Popko B. 2005. Disruption of the mouse Large gene in the enr and myd mutants results in nerve, muscle, and neuromuscular junction defects. Mol Cell Neurosci 28(4):757-69. [PubMed: 15797722] [MGI Ref ID J:96939]
Mathews KD; Mills KA; Bailey HL; Schelper RL; Murray JC. 1995. Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q. Muscle Nerve Suppl(2):S98-102. [PubMed: 7739634] [MGI Ref ID J:26061]
Mathews KD; Rapisarda D; Bailey HL; Murray JC; Schelper RL; Smith R. 1995. Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy. J Neuropathol Exp Neurol 54(4):601-6. [PubMed: 7602333] [MGI Ref ID J:27793]
Michele DE; Barresi R; Kanagawa M; Saito F; Cohn RD; Satz JS; Dollar J; Nishino I; Kelley RI; Somer H; Straub V; Mathews KD; Moore SA; Campbell KP. 2002. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 418(6896):417-22. [PubMed: 12140558] [MGI Ref ID J:86900]
Mobley BA. 1985. Ca2+ capacity and uptake rate in skinned fibers of myodystrophic muscle. Exp Neurol 87(1):137-46. [PubMed: 3155690] [MGI Ref ID J:7713]
Neymark MA; Kopacz SJ; Lee CP. 1980. Characterization of ATPase in sarcoplasmic reticulum from two strains of dystrophic mice. Muscle Nerve 3(4):316-25. [PubMed: 6447833] [MGI Ref ID J:6379]
Nutting DF; MacPike AD; Meier H. 1980. The calcium content of various tissues from myodystrophic and dystrophic mice. J Hered 71:15-18. [MGI Ref ID J:12034]
Qu Q; Crandall JE; Luo T; McCaffery PJ; Smith FI. 2006. Defects in tangential neuronal migration of pontine nuclei neurons in the Largemyd mouse are associated with stalled migration in the ventrolateral hindbrain. Eur J Neurosci 23(11):2877-86. [PubMed: 16819976] [MGI Ref ID J:111600]
Rayburn HB; Peterson AC. 1978. Naked axons in myodystrophic mice. Brain Res 146(2):380-4. [PubMed: 647395] [MGI Ref ID J:5974]
Reed PW; Mathews KD; Mills KA; Bloch RJ. 2004. The sarcolemma in the Large(myd) mouse. Muscle Nerve 30(5):585-95. [PubMed: 15389724] [MGI Ref ID J:104941]
Rurak J; Noel G; Lui L; Joshi B; Moukhles H. 2007. Distribution of potassium ion and water permeable channels at perivascular glia in brain and retina of the Large(myd) mouse. J Neurochem 103(5):1940-53. [PubMed: 17803675] [MGI Ref ID J:128697]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
|
|
|
Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
|
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 and Purchasing Information
Purchasing Information
JAX® Mice Orders
Surgical Services
Contact Information
Orders & Technical 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 inquiries
Contracts 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. 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.