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 FoundationRead More +
Mice homozygous for the targeted mutation die before or shortly after birth due todevelopmental defects. Homozygotes on the A/J background exhibit exencephaly (severeneural tube closure defects), with a higher embryonic lethality than homozygotes on theC57BL/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 phenotypeis highly background dependent. Heterozygotes are viable and fertile with timely cranialneural 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 usefulin 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)|
|Gene Symbol and Name||Ski, ski sarcoma viral oncogene homolog (avian)|
|Gene Synonym(s)||2310012I02Rik; 2310012I02Rik; 2610001A11Rik; 2610001A11Rik; AA062172; AA589460; BC004088; MGC:8300; RGD1565591; RIKEN cDNA 2310012I02 gene; RIKEN cDNA 2610001A11 gene; SGS; SKV; c-ski; cDNA sequence BC004088; expressed sequence AA062172; expressed sequence AA589460|
|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
|Please inquire about possible genotypes.|
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