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.
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.
|Allele Name||targeted mutation 1, Deepak Srivastava|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Smyd1, SET and MYND domain containing 1|
|Strain of Origin||129S6/SvEvTac|
|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|
|Mutations Made By|| |
Paul Gottlieb and Deepak Srivastava, University of Texas
When maintaining a live colony, heterozygous mice are bred. Homozygous mice die in utero.
When using the Bop- mouse strain in a publication, please cite the originating article(s) and include JAX stock #006473 in your Materials and Methods section.