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Strain Name:
B6SJL-Tg(Myh6-MYL3*A57G)#Dsc/Mmjax
Stock Number:
075949-JAX
Citation ID:
RRID:MMRRC_075949-JAX
Other Names:
A57G; Tg-A57G

Strain Information

QUALITY CONTROL OF B6SJL-Tg(Myh6-MYL3*A57G)#Dsc/Mmjax  |  The Jackson Laboratory
Last Updated:
Strain Data and Information Information by Submitter Assessed by MMRRC1,2
Published Provided
Allele-specific genotype3n.d.
Genetic backgroundn.d.
Viability of genotypes available for distributionn.d.
Specific Pathogen- Status n.d.
Recoverability of cryopreserved sperm/embryos4 n.d.
Gene or allele sequence3n.d.
Gene or allele expression3n.d.
Gene or allele function3n.d.
Observable and/or measurable phenotypesn.d.
Fertility of genotypes available for distributionn.d.
Fecundity/breeding performance n.d.

1 When indicated as verified ("YES"), then please note that information presented is to the best of our knowledge correct and up-to-date at the time of verification at the MMRRC Distribution Center; however, this information is subject to change due to breeding, maintenance, and other actions on the mouse strain at the MMRRC Distribution Center; direct any questions on this table to the MMRRC Distribution Center for this mouse stain.

2 If verification has not been performed (as indicated by "NO"), investigators may request specific verification testing for a fee. Requests should be submitted directly to the MMRRC Distribution Center assigned to the management, archiving, and distribution of the strain. A full listing of available testing and analytical services is available at https://www.mmrrc.org/about/services.php.

3 This information may or may not apply to each individual engineered allele (e.g., Cre, FlpO) present in the strain.

4 Recovery refers to thawing, in vitro fertilization (IVF), and/or embryo culture leading to live offspring.

Myh6
Name: myosin, heavy polypeptide 6, cardiac muscle, alpha
Type: Gene
Species: Rattus norvegicus (norway rat)
Chromosome: 15
MYL3
Name: myosin light chain 3
Type: Gene
Species: Homo sapiens (human)
Chromosome: 3
Genetic Alterations
MYL3-A57G transgenic mice harbor human MYL3 cDNA, which carries a A57G mutation, driven by the mouse Myh6 promoter. These mice may be useful when studying familial hypertrophic cardiomyopathy.

Of note, the donating laboratory has made a control MYL3-WT transgenic line available as RRID:MMRRC_075978-JAX.
ES Cell Line
Not applicable
Phenotype
The myosin, light polypeptide 3 (Myl3) gene encodes the myosin essential light chain 3 (ELC) protein, which is a component of the cardiac myosin complex and plays a critical role in cardiac muscle contraction. Mutations in this gene are associated with hypertrophic cardiomyopathy and other cardiac disorders. These MYL3-A57G transgenic mice harbor human MYL3 cDNA, which includes an amino acid substitution of alanine to glycine at position 57 (A57G), driven by the mouse myosin, heavy polypeptide 6, cardiac muscle, alpha (Myh6) promoter.

Hemizygous mice are viable and fertile. The donating laboratory has not evaluated homozygous mice. By 5-6 months of age, MYL3-A57G transgenic mice do demonstrate age-related cardiac hypertrophy, including increased left ventricular (LV) wall thickness, interstitial fibrosis, and diastolic dysfunction. These MYL3-A57G transgenic mice may be useful when studying familial hypertrophic cardiomyopathy.

Of note, the donating laboratory has made a control MYL3-WT transgenic line available as RRID:MMRRC_075978-JAX.
MeSH Terms
  • Amino Acid Substitution
  • Animals
  • Cardiomyopathy, Hypertrophic, Familial/etiology
  • Cardiomyopathy, Hypertrophic, Familial/genetics
  • Cardiomyopathy, Hypertrophic, Familial/physiopathology
  • Humans
  • Male
  • Mice
  • Mice, Mutant Strains
  • Mice, Transgenic
  • Models, Molecular
  • Mutagenesis, Site-Directed
  • Mutant Proteins/chemistry
  • Mutant Proteins/genetics
  • Mutant Proteins/physiology
  • Myocardial Contraction/genetics
  • Myocardial Contraction/physiology
  • Myocardium/pathology
  • Myosin Light Chains/chemistry
  • Myosin Light Chains/genetics
  • Myosin Light Chains/physiology
  • Papillary Muscles/pathology
  • Papillary Muscles/physiopathology
  • Peptide Fragments/chemistry
  • Peptide Fragments/genetics
  • Protein Conformation
  • Recombinant Proteins/chemistry
  • Recombinant Proteins/genetics
  • Recombinant Proteins/metabolism
  • X-Ray Diffraction
  • Biomechanical Phenomena
  • Calcium/metabolism
  • Cardiomyopathy, Hypertrophic, Familial/diagnostic imaging
  • Cardiomyopathy, Hypertrophic, Familial/metabolism
  • Disease Models, Animal
  • Excitation Contraction Coupling
  • Fibrosis
  • Genetic Predisposition to Disease
  • Hemodynamics
  • Kinetics
  • Mutation
  • Myocardial Contraction
  • Myofibrils/metabolism
  • Myosin Light Chains/metabolism
  • Papillary Muscles/metabolism
  • Phenotype
  • Phosphorylation
  • Swine
  • Ultrasonography
  • Ventricular Function, Left
  • Ventricular Remodeling
  • Cardiomegaly/genetics
  • Cardiomegaly/metabolism
  • Cardiomegaly/pathology
  • Down-Regulation/physiology
  • Female
  • Heart/physiology
  • Mitochondrial Proteins/metabolism
  • Mutation/genetics
  • Myocardium/metabolism
  • Proteome/metabolism
  • Proteomics/methods
  • Up-Regulation/physiology
  • Ventricular Remodeling/genetics
  • Ventricular Remodeling/physiology
  • Actin Cytoskeleton/metabolism
  • Actin Cytoskeleton/physiology
  • Cardiac Myosins/chemistry
  • Cardiac Myosins/genetics
  • Cardiac Myosins/physiology
  • Ventricular Myosins/chemistry
  • Ventricular Myosins/genetics
  • Ventricular Myosins/physiology
  • Cardiomegaly/physiopathology
  • Cardiomyopathy, Hypertrophic/genetics
  • Cardiomyopathy, Hypertrophic/metabolism
  • Cardiomyopathy, Hypertrophic/physiopathology
  • Echocardiography
  • Cardiomyopathies/genetics
  • Cardiomyopathies/metabolism
  • Sarcomeres/metabolism
Strain GQC Summary
Gene Specific Genotyping:

To request gene-specific and other genotyping services for a strain, please contact the distribution MMRRC Center for more information.

Background Genetic Quality:

The MMRRC has developed a Genetic Quality Control pipeline using the MiniMUGA array to provide additional information to identify and validate genetic backgrounds of MMRRC strains. For more information on whether genetic background data is available, please contact MMRRC_GeneticQC@med.unc.edu. Note: that MiniMUGA genetic background data is not available on all strains, but can be ordered if desired.

Suggested Control Mice
Littermates of all relevant genotypes.
  • Cardiovascular
Donor
Danuta Szczesna-cordary, Ph.D., University of Miami Miller School of Medicine.
Primary Reference

Muthu P, Wang L, Yuan CC, Kazmierczak K, Huang W, Hernandez OM, Kawai M, Irving TC, Szczesna-Cordary D. Structural and functional aspects of the myosin essential light chain in cardiac muscle contraction. FASEB J. 2011 Dec;25(12):4394-405. doi: 10.1096/fj.11-191973. Epub 2011 Sep 1. (Medline PMID: 21885653)

Kazmierczak K, Paulino EC, Huang W, Muthu P, Liang J, Yuan CC, Rojas AI, Hare JM, Szczesna-Cordary D. Discrete effects of A57G-myosin essential light chain mutation associated with familial hypertrophic cardiomyopathy. Am J Physiol Heart Circ Physiol. 2013 Aug 15;305(4):H575-89. doi: 10.1152/ajpheart.00107.2013. Epub 2013 Jun 7. (Medline PMID: 23748425)

Kazmierczak K, Yuan CC, Liang J, Huang W, Rojas AI, Szczesna-Cordary D. Remodeling of the heart in hypertrophy in animal models with myosin essential light chain mutations. Front Physiol. 2014 Sep 22;5:353. doi: 10.3389/fphys.2014.00353. (Medline PMID: 25295008)

Gomes AV, Kazmierczak K, Cheah JX, Gilda JE, Yuan CC, Zhou Z, Szczesna-Cordary D. Proteomic analysis of physiological versus pathological cardiac remodeling in animal models expressing mutations in myosin essential light chains. J Muscle Res Cell Motil. 2015 Dec;36(6):447-61. doi: 10.1007/s10974-015-9434-0. Epub 2015 Dec 14. (Medline PMID: 26668058)

Wang Y, Yuan CC, Kazmierczak K, Szczesna-Cordary D, Burghardt TP. Single cardiac ventricular myosins are autonomous motors. Open Biol. 2018 Apr;8(4):170240. doi: 10.1098/rsob.170240. (Medline PMID: 29669825)

Sitbon YH, Kazmierczak K, Liang J, Yadav S, Veerasammy M, Kanashiro-Takeuchi RM, Szczesna-Cordary D. Ablation of the N terminus of cardiac essential light chain promotes the super-relaxed state of myosin and counteracts hypercontractility in hypertrophic cardiomyopathy mutant mice. FEBS J. 2020 Sep;287(18):3989-4004. doi: 10.1111/febs.15243. Epub 2020 Feb 25. (Medline PMID: 32034976)

Sitbon YH, Diaz F, Kazmierczak K, Liang J, Wangpaichitr M, Szczesna-Cordary D. Cardiomyopathic mutations in essential light chain reveal mechanisms regulating the super relaxed state of myosin. J Gen Physiol. 2021 Jul 5;153(7):e202012801. doi: 10.1085/jgp.202012801. Epub 2021 May 20. (Medline PMID: 34014247)

Sitbon YH, Kazmierczak K, Liang J, Kloehn AJ, Vinod J, Kanashiro-Takeuchi R, Szczesna-Cordary D. Dual effect of N-terminal deletion of cardiac myosin essential light chain in mitigating cardiomyopathy. iScience. 2024 Jul 26;27(8):110591. doi: 10.1016/j.isci.2024.110591. (Medline PMID: 39211545)

Strain Development
The MYL3-A57G transgene was generated using human myosin, light polypeptide 3 (MYL3) cDNA, that contains an amino acid substitution of alanine to glycine at position 57 (A57G), driven by the mouse myosin, heavy polypeptide 6, cardiac muscle, alpha (Myh6) promoter. The final transgene construct included approximately 5.5kb of the mouse Myh6 promoter, including the first two exons and part of the third, followed by ~590bp of the human MYL3-A57G mutation and a 630bp 3' untranslated region (UTR) from the human growth hormone (hGH) transcript. The purified linearized DNA was microinjected into the pronuclei of fertilized mouse oocytes obtained from (C57BL/6XSJL)F1 matings. The donating laboratory has indicated that the transgene copy number and integration site are not known. The MYL3-A57G transgenic colony was maintained by crossing hemizygous mice to B6SJLF1/J mice. Upon arrival at The Jackson Laboratory, sperm was cryopreserved. To establish a live colony, an aliquot of frozen sperm was used to fertilize B6SJLF1/J oocytes.


Disclaimer: If MMRRC Strain Genetic Quality Control (GQC; based on MiniMUGA genotyping and analysis) has been completed for this strain, the information might differ from the genetic background information provided by the submitter. MiniMUGA genetic analysis is done on a strain’s tissue samples taken when archived by or ordered from the assigned MMRRC Center.

Colony and Husbandry Information

Husbandry includes a virus-free environment.

For more information about this colony's health status contact csmmrrc@jax.org
Coat Color
Coat color differs.
Eye
Eye color differs.
MMRRC Breeding System
Backcross
Generation
N>20 The A57G ELC strain was created over 10 years ago. The line has been backcrossed approximately twice a year to keep line continuity.
Overall Breeding Performance
Excellent
NOTE: "Hemizygote" as used here refers to males carrying a mutation on the X Chromosome or mice of either sex carrying an inserted transgene with no homologous allele on the other chromosome.
Viability and Fertility: Female Male Comments
Homozygotes are viable: Undetermined Undetermined
Homozygotes are fertile: Undetermined Undetermined
Hetero/Hemizygotes are fertile: Undetermined Undetermined
Age Reproductive Decline: 7 to 9 months 7 to 9 months
Average litter size
7 to 9
Recommended wean age
3 Weeks
Average Pups Weaned
7 to 9

Order Information

Limited quantities of breeder mice (up to 2 males and 2 females or 4 mice) per investigator per month are available from a live colony, usually available to ship in under 12 weeks. Larger quantities may be available, please contact the distributing center directly at csmmrrc@jax.org for more details.

Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org for more information.

A Commercial License Agreement from the Donor is required for for-profit entities to use this strain. For more information, please contact Alexandra Vargas.

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

A Commercial License Agreement from the Submitter is required for for-profit entities to use this strain. For more information, please contact Alexandra Vargas

Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # Description Distribution Fee / Unit (US $)
*Shipping & Handling not included*
Units Notes
075949-JAX-HET-F
075949-JAX-HET-M
075949-JAX-WT-F
075949-JAX-WT-M
Heterozygous / Hemizygous Female
Heterozygous / Hemizygous Male
Wild Type Female
Wild Type Male
$200.00 / $200.00
Non-Profit / For-Profit
Per Mouse The csmmrrc@jax.org may assess additional fees for any special requests (e.g., specific age or weight of mice, etc.).
Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org for more information.

1 The distribution fee covers the expense of rederiving mice from a live mouse; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

2 An aliquot contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

3 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

4 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.