B6.129-Akap6^tm1Jsco/38J

Stock number: 007448
Research areas: Developmental Biology Research

Description

These A kinase (PRKA) anchor protein 6 (Akap6)-mutant mice may be useful in studying developmental biology and craniofacial defects.

Detailed description

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.

Development

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 T38) has been backcrossed to C57BL/6 for at least 10 generations.

Allele

Symbol: Akap6^tm1Jsco
Name: targeted mutation 1, John D Scott
MGI accession ID: MGI:3711141
Generation method: Targeted
Attributes: Null/Knockout
Synonyms: mAKAP alpha^-
Marker symbol: Akap6
Marker name: A kinase (PRKA) anchor protein 6
Chromosome: 12
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.