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- 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
Type Mutant Stock; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation ?+N1F1pN1
Generation DefinitionsDonating Investigator Rhonda Bassel-Duby, University of Texas Southwestern Description
Mice homozygous for this calsarcin-1 mutant allele are viable and fertile. Immunoblot of homozygous cardiac tissue shows no endogenous protein expression. Strong lacZ expression throughout all cardiac chambers mirrors the expression pattern of the endogenous gene, and marked skeletal muscles known to contain a high proportion of type I (slow) fibers. Homozygotes have skeletal muscle abnormalities in type I (slow) fibers and calcineurin activity. Echocardiography of homozygous mice reveals abnormal heart performance. Absence of gene function activates a cardiac hypertrophic fetal gene program (despite the absence of hypertrophy) and enhanced the cardiac growth response to pressure overload. These mutant mice may be useful in studying growth and gene expression of cardiac and skeletal muscle, as well as the pathogenesis of human cardiomyopathies.In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
Development
A targeting vector was designed to replace exons 2-3 of the targeted gene with a lacZ/PGKneo cassette, placing the lacZ gene under the control of the endogenous promoter. The construct was electroporated into 129/Sv-derived embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. Chimeric animals were crossed with C57BL/6J (and/or 129SvEv mice) to obtain heterozygous mutant mice, which were intercrossed to homozygosity. Homozygous mice were bred together for many generations. The donating investigator indicates their mice are always agouti. Upon arrival at The Jackson Laboratory, mice were crossed for at least one generation to C57BL/6J to establish the colony.
Control Information
| Control | ||
|---|---|---|
| 101043 B6129SF1/J | (approximate) | |
| 101045 B6129SF2/J | (approximate) | |
| Considerations for Choosing Controls | ||
Related Strains
lacZ Expression Strains
View lacZ Expression Strains (245 strains)
Additional Web Information
Fluorescent Proteins/lacZ Systems
Phenotype
Phenotype Information
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Myoz2tm1Eno/Myoz2tm1Eno
involves: 129/Sv * C57BL/6J
- cardiovascular system phenotype
- abnormal cardiovascular system physiology (MGI Ref ID J:94665)
- cardiomyopathy
- after 3 weeks of aortic banding (causing pressure overload), showed exacerbated cardiomyopathy (MGI Ref ID J:94665)
- decreased cardiac muscle contractility
- systolic dysfunction with fractional shortening of 35.9% in homozygous mutants compared to 46.7% in controls but no differences in left ventricular end diastolic diameters (MGI Ref ID J:94665)
- reduction in the ejection fraction (49.2% versus 59.2% of blood that is pumped out of a filled ventricle) was observed by cardiac catheterization (MGI Ref ID J:94665)
- end diastolic (46.5 versus 38.2 ul) and end systolic (26.5 versus 17 ul) volumes were elevated however end diastolic and systolic pressures were unchanged (MGI Ref ID J:94665)
- increased response of heart to induced stress
- homozygotes subjected to pressure overload via thoracic aortic banding exhibit increased cardiac hypertrophy and cardiomyopathy compared to wild-type (MGI Ref ID J:94665)
- abnormal myocardial fiber morphology
- Z-discs in homozygous mutant hearts appeared fuzzy and widened and showed a significant 36% increase in diameter (MGI Ref ID J:94665)
- small myocardial fiber
- cross-sectional area of cardiomyocytes from 3 week old mutants was reduced compared to wild-type, however at older ages, differences in the area were not observed (MGI Ref ID J:94665)
- dilated heart atrium
- after 3 weeks of aortic banding (causing pressure overload), showed dilation of the atria (MGI Ref ID J:94665)
- dilated heart left ventricle
- after 3 weeks of aortic banding (causing pressure overload), showed dilation of both ventricles (MGI Ref ID J:94665)
- dilated heart right ventricle
- after 3 weeks of aortic banding (causing pressure overload), showed dilation of both ventricles (MGI Ref ID J:94665)
- enlarged heart
- hearts from homozygotes were indistinguishable from wild-type under normal conditions, however when subjected to stress via aortic banding, the heart was enlarged compared to wild-type (MGI Ref ID J:94665)
- cardiac hypertrophy
- although homozygotes did not develop spontaneous cardiac hypertrophy (under non-stressful conditions), the hypertrophic gene program was chronically activated in mutants (MGI Ref ID J:94665)
- homozygotes subjected to pressure overload via thoracic aortic banding showed a higher increase in cardiac mass than controls (58% increase in heart weight/body weight ratio versus 27% increase in wild-type) but not when chronically stimulated with an adrenergic agonist (MGI Ref ID J:94665)
- muscle phenotype
- abnormal myocardial fiber morphology
- Z-discs in homozygous mutant hearts appeared fuzzy and widened and showed a significant 36% increase in diameter (MGI Ref ID J:94665)
- small myocardial fiber
- cross-sectional area of cardiomyocytes from 3 week old mutants was reduced compared to wild-type, however at older ages, differences in the area were not observed (MGI Ref ID J:94665)
- abnormal skeletal muscle morphology (MGI Ref ID J:94665)
- abnormal skeletal muscle fiber type ratio
- the number of type I (slow) skeletal muscle fibers was significantly increased (439 versus 289 in wild-type) in soleus muscle (MGI Ref ID J:94665)
- decreased skeletal muscle fiber size
- the size of slow-fibers was decreased in soleus muscle (MGI Ref ID J:94665)
- cardiomyopathy
- after 3 weeks of aortic banding (causing pressure overload), showed exacerbated cardiomyopathy (MGI Ref ID J:94665)
- decreased cardiac muscle contractility
- systolic dysfunction with fractional shortening of 35.9% in homozygous mutants compared to 46.7% in controls but no differences in left ventricular end diastolic diameters (MGI Ref ID J:94665)
- reduction in the ejection fraction (49.2% versus 59.2% of blood that is pumped out of a filled ventricle) was observed by cardiac catheterization (MGI Ref ID J:94665)
- end diastolic (46.5 versus 38.2 ul) and end systolic (26.5 versus 17 ul) volumes were elevated however end diastolic and systolic pressures were unchanged (MGI Ref ID J:94665)
- homeostasis/metabolism phenotype
- increased response of heart to induced stress
- homozygotes subjected to pressure overload via thoracic aortic banding exhibit increased cardiac hypertrophy and cardiomyopathy compared to wild-type (MGI Ref ID J:94665)
This mouse can be used to support research in many areas including:
Cardiovascular Research
Heart Abnormalities
cardiomyopathy
Other
Developmental Biology Research
Internal/Organ Defects
heart
Internal/Organ Research
Heart Abnormalities
Research Tools
lacZ Expression
Cardiovascular Research
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Myoz2tm1Eno | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Eric N Olson | ||
| Allele Type | Targeted (knock-in) | ||
| Common Name(s) | Myoz2-; | ||
| Mutation Made By | Eric Olson, University of Texas Southwestern Medical | ||
| Strain of Origin | 129/Sv | ||
| ES Cell Line Strain | 129 | ||
| Site of Expression | lacZ expression is seen throughout all cardiac chambers and marked skeletal muscles known to contain a high proportion of type I (slow) fibers. | ||
| Expressed Gene | lacZ, beta-galactosidase, E. coli | ||
| Molecular Note | An nLacZ-PGK-neo cassette replaced exon 2, which contains the translation start site. Beta-galactosidase staining of mutant heart demonstrated lacZ was expressed. RT-PCR showed a lack of wild-type transcripts and immunostaining lacked detectable protein in mutant heart sections. [MGI Ref ID J:94665] | ||
| Gene Symbol and Name | Myoz2, myozenin 2 | ||
| Chromosome | 3 | ||
| Gene Common Name(s) | 1110012I24Rik; C4orf5; CMH16; CS-1; Fatz-2; RIKEN cDNA 1110012I24 gene; calsarcin-1; | ||
Genotyping
Genotyping Information
Genotyping Protocols
Generic LacZ Melt Curve Analysis, Melt Curve Analysis
Generic LacZ, Standard PCR
Myoz2tm1Eno, Standard PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Frey N; Barrientos T; Shelton JM; Frank D; Rutten H; Gehring D; Kuhn C; Lutz M; Rothermel B; Bassel-Duby R; Richardson JA; Katus HA; Hill JA; Olson EN. 2004. Mice lacking calsarcin-1 are sensitized to calcineurin signaling and show accelerated cardiomyopathy in response to pathological biomechanical stress. Nat Med 10(12):1336-1343. [PubMed: 15543153] [MGI Ref ID J:94665]
Additional References
Myoz2tm1Eno relatedSchoensiegel F; Bekeredjian R; Schrewe A; Weichenhan D; Frey N; Katus HA; Ivandic BT. 2007. Atrial natriuretic peptide and osteopontin are useful markers of cardiac disorders in mice. Comp Med 57(6):546-53. [PubMed: 18246866] [MGI Ref ID J:141626]
Health & husbandry
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.
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.Colony Maintenance
Breeding & Husbandry When maintaining a live colony, homozygous mice may be bred together.
Purchasing information
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $1980.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes
- Cryorecovery - Standard.
We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
| Pricing for International shipping destinations |
|
|
Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2574.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes
- Cryorecovery - Standard.
We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
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|
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
General Supply Notes
- This strain is included in the Induced Mutant Resource Colony collection.
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| 101043 B6129SF1/J | (approximate) | |
| 101045 B6129SF2/J | (approximate) | |
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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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
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| fax: | 207-288-6655 |
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