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Strain Name:

STOCK Smyd1tm1Dsr/J

Stock Number:

006473

Availability:

Repository- Live

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Additional Licensing and Use Restrictions

Genes & Alleles   Smyd1;   Smyd1tm1Dsr;

Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Stock
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Targeted Mutation
Mating System+/+ sibling x Heterozygote         (Female x Male)
Specieslaboratory mouse
Donating Investigator Eric Olson,   University of Texas Southwestern Medical
Generation?+N1F2 (09-JAN-08)

Strain Description
Mice heterozygous for this targeted mutation are viable and fertile. Mice homozygous for this targeted allele, however, die between embryonic day (E) 9.5 and 10.5 due to cardiomyocyte maturation defects, including an enlarged heart, single left-side ventricular chamber with tremendous extra cellular matrix expansion between the myocardial and endocardial layers, and defective Hand2 expression. No mRNA transcripts from the targeted mutant gene are detected in cardiac tissue from E9.5 homozygotes. These mutant mice may be useful in studying cardiomyocyte differentiation and cardiac morphogenesis.

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.

Strain Development
A targeting vector was designed to replace exons 2-3 of the targeted gene with an oppositely directed neomycin resistance gene. The construct was electroporated into 129S6/SvEvTac-derived SM1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts, which were then injected into pseudopregnant B6D2F1 females. Founder animals passed the targeted allele on to their progeny. The resulting mice were maintained via heterozygous matings for many generations. The donating investigator indicates their mice are always agouti and the coat color does not vary. Upon arrival at The Jackson Laboratory, heterozygotes were bred to 129S1/SvImJ (Stock No. 002448) inbred mice for at least one generation to establish the colony.

Mammalian Phenotype Terms assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Smyd1tm1Dsr/Smyd1tm1Dsr

        involves: 129S6/SvEvTac
  • lethality-prenatal/perinatal
  • embryonic lethality during organogenesis (MGI Ref ID J:76212)
    • homozygous mutant embryos died by E10.5
  • cardiovascular system phenotype
  • *normal* cardiovascular system phenotype (MGI Ref ID J:76212)
    • the atrium appeared unaffected, with normal amounts of extracellular matrix
    • abnormal heart morphology (MGI Ref ID J:76212)
      • at E9.5, only a single left-side ventricular chamber was apparent
      • this single ventricular chamber was directly connected to the outflow tract
      • expression of Hand1, a left ventricular marker, appeared unaffected throughout the ventricular chamber
      • enlarged heart (MGI Ref ID J:76212)
        • at E9.5, homozygotes had an enlarged heart
        • despite cardiac enlargement, the lumen of the heart was not dilated
        • cardiac enlargement appeared to be secondary to a marked expansion of extracellular matrix or "cardiac jelly", between the myocardial and endocardial layers
      • poorly developed ventricular trabeculae (MGI Ref ID J:76212)
        • formation of trabeculae was limited
      • ventricular hypoplasia (MGI Ref ID J:76212)
        • at E9.0, expression of Hand2, a right ventricular marker, was significantly downregulated, indicating the presence of a rudimentary, hypoplastic right ventricle
  • cellular phenotype
  • abnormal apoptosis (MGI Ref ID J:76212)
    • at E9.0, TUNEL analysis revealed apoptotic death in the anterior region of the mutant looping heart tube
  • embryogenesis phenotype
  • embryonic growth retardation (MGI Ref ID J:76212)
    • homozygous mutant embryos displayed growth retardation by E9.5
  • muscle phenotype
  • poorly developed ventricular trabeculae (MGI Ref ID J:76212)
    • formation of trabeculae was limited
  • growth/size phenotype
  • embryonic growth retardation (MGI Ref ID J:76212)
    • homozygous mutant embryos displayed growth retardation by E9.5

Gene & Allele Details

Allele Symbol Smyd1tm1Dsr
Allele Name targeted mutation 1, Deepak Srivastava
Common Name(s) Bop-;
Mutation Made By Paul Gottlieb and Deepak Srivastava,   University of Texas
Strain of Origin129S6/SvEvTac
ES Cell Line NameSM1
ES Cell Line Strain129S6/SvEvTac
Gene Symbol and Name Smyd1, SET and MYND domain containing 1
Chromosome 6
Gene Common Name(s) 4632404M21Rik; BOP; Bop; C78565; CD8beta opposite strand; RIKEN cDNA 4632404M21 gene; ZMYND18; ZMYND22; expressed sequence C78565;
Molecular Note Exons 2 and 3, which encompass the MYND domain, are replaced with a neo-resistance gene. RT-PCR failed to detect transcript in hearts from homozygous mutant embryos at E9.5 [MGI Ref ID J:76212]

Control Information

  Control
   Wild-type from the colony
 
  Considerations for Choosing Controls

Genotyping Protocols

Smyd1tm1Dsr

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, heterozygous mice are bred. Homozygous mice die in utero.
Diet Information LabDiet® 5K52/5K67

Animal Health Reports

Room Number           AX11

Research Applications

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

Cardiovascular Research
Heart Abnormalities (cardiomyopathy)
Other

Cell Biology Research
Defects in Extracellular Matrix Molecules

Developmental Biology Research
Defects in Extracellular Matrix Molecules
Embryonic Lethality (Homozygous)
Internal/Organ Defects (heart)

Internal/Organ Research
Heart Abnormalities

Research Tools
Cardiovascular Research
Developmental Biology Research
Internal/Organ Research

References

Selected Reference(s)

Gottlieb PD; Pierce SA; Sims RJ; Yamagishi H; Weihe EK; Harriss JV; Maika SD; Kuziel WA; King HL; Olson EN; Nakagawa O; Srivastava D. 2002. Bop encodes a muscle-restricted protein containing MYND and SET domains and is essential for cardiac differentiation and morphogenesis. Nat Genet 31(1):25-32. [PubMed: 11923873]  [MGI Ref ID J:76212]

Price and Supply Information

Strain Name: STOCK Smyd1tm1Dsr/J
Stock Number: 006473

Price Details

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Supply Details

Standard SupplyRepository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.
Supply Notes Usually shipped between four and eight weeks of age.
This strain is included in the Induced Mutant Resource Colony collection.
LicensingSee General Terms and Conditions below for Licensing and Use Restrictions  
Control InformationView Control Information in Strain Details.

General Terms and Conditions

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- Use of MICE by companies or for-profit entities requires a license prior to shipping.

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.
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