Mice homozygous for this targeted mutation of Sloan-Kettering viral oncogene homolog (Ski) die before or shortly after birth due to developmental defects. Homozygotes on the A/J background exhibit exencephaly (severe neural tube closure defects), with a higher embryonic lethality than homozygotes on the C57BL/6 or 129 backgrounds. None exhibit facial clefting. None exhibit facial clefting. This mutant strain may be useful in studies of facial cleft formation, 1p36 deletion syndrome, oncogene function, apoptosis, and neural tube and skeletal muscle defects.
Clemencia Colmenares, The Cleveland Clinic Foundation
Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Targeted (Null/Knockout) | Ski | ski sarcoma viral oncogene homolog (avian) |
Mice homozygous for the targeted mutation die before or shortly after birth due to
developmental defects. Homozygotes on the A/J background exhibit exencephaly (severe
neural tube closure defects), with a higher embryonic lethality than homozygotes on the
C57BL/6 or 129 backgrounds. None exhibit facial clefting. The Donating Investigator reports that homozygotes display flattened or shorter snouts, iris malformation and polydactyly. The penetrance of the phenotype
is highly background dependent. Heterozygotes are viable and fertile with timely cranial
neural tube closure, and a low incidence of facial clefting. The Donating Investigator reports some heterozygotes on the A/J background exhibit lateral facial clefting. This mutant strain may be useful
in studies of facial cleft formation, 1p36 deletion syndrome, oncogene function, apoptosis,
and neural tube and skeletal muscle defects.
A targeting vector containing a thymidine kinase-driven neomycin resistance cassette was used to disrupt exon 1 and generated a small deletion in the coding sequence. The construct was electroporated into 129P2/OlaHsd-derived E14.1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. The resulting chimeric mice were bred to 129S6Tac (129P3) and then backcrossed to A/J for 9 generations before arriving at The Jackson Laboratory. After arriving, the mice were crossed to A/J once.
Allele Name | targeted mutation 1, Clemencia Colmenares |
---|---|
Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | ski- |
Gene Symbol and Name | Ski, ski sarcoma viral oncogene homolog (avian) |
Gene Synonym(s) | |
Strain of Origin | 129P2/OlaHsd |
Chromosome | 4 |
Molecular Note | Insertion of a neomycin resistance cassette into the exon 1 generated a small deletion in the coding sequence. |
Mutations Made By | Clemencia Colmenares, The Cleveland Clinic Foundation |
When maintaining a live colony, these mice can be bred as heterozygotes. Homozygotes die before or shortly after birth.
When using the A.129P-Skitm1Cco/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #009092 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or Wild-type for Ski<tm1Cco> |
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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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