Mice homozygous for this targeted mutation of Sloan-Kettering viral oncogene homolog (Ski) die before or shortly after birth due to developmental defects. More than 80% of homozygotes on the 129 background exhibit exencephaly (severe neural tube closure defects) between embryonic day 15.5 (E15.5) and embryonic day 18.5 (E18.5). 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
Mice homozygous for the targeted mutation die before or shortly after birth due to
developmental defects. More than 80% of homozygotes on the 129 background exhibit
exencephaly (severe neural tube closure defects) between embryonic day 15.5 (E15.5) and
embryonic day 18.5 (E18.5). 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, the Donating Investigator reports, no 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 129S6Tac for 18 generations before arriving at The Jackson Laboratory. After arriving, the mice were crossed to 129S1/SvlmJ once.
|Allele Name||targeted mutation 1, Clemencia Colmenares|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Ski, ski sarcoma viral oncogene homolog (avian)|
|Strain of Origin||129P2/OlaHsd|
|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 129-Skitm1Cco/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #009091 in your Materials and Methods section.
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