These A kinase (PRKA) anchor protein 6 (Akap6)-mutant mice may be useful in studying developmental biology and craniofacial defects.
John D. Scott, University of Washington
Homozygous mice have reduced viability, especially on a C57BL/6 background. Approximately 1 out of 4 homozygotes are very small and die before reaching 2 weeks of age. The remaining homozygotes are 20-30% smaller than wildtype and heterozygous littermates; these survive and eventually become similar in size to wildtypes. All homozygotes have a characteristic craniofacial defect that includes a very pointed nose, eyes that are delayed in opening, and a shortened jaw. The alpha transcript of the gene is absent, as determined by brain mRNA and protein assays. Beta transcript RNA is present in heart and brain.
A targeting vector was designed to replace exon 2 with an IRES, LacZ, URA and neomycin cassette and thus inhibit the production of the alpha alternative transcript. The vector was injected into 129-derived embryonic stem (ES) cells. This line (line T14) has been backcrossed to C57BL/6 for at least 10 generations.
|Allele Name||targeted mutation 1, John D Scott|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||mAKAP alpha-|
|Gene Symbol and Name||Akap6, A kinase (PRKA) anchor protein 6|
|Strain of Origin||129|
|Molecular Note||A targeting vector was designed to replace exon 2 with an IRES, LacZ, URA and neomycin cassette and thus inhibit the production of the alpha alternative transcript.|
|Mutations Made By|| |
John Scott, University of Washington
When maintained as a live colony, heterozygotes may be bred. Homozygotes have reduced viability.
When using the B6.129-Akap6tm1Jsco/14J mouse strain in a publication, please cite the originating article(s) and include JAX stock #007447 in your Materials and Methods section.