Mice that are heterozygous for the null Clns1a allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous null mice have an embryonic lethal phenotype, failing to develop past embryonic days 3.5-7.5. More so, at least one functioning Clns1a allele is essential for embryonic stem cell viability. The Clns1a gene product is a ubiquitously expressed 26 kDa protein that is believed to play a role in cell cycle regulation and RNA processing.
A targeting vector containing a diphtheria toxin gene and a neomycin resistance gene driven by the mouse phosphoglycerate kinase promoter was used to disrupt the first coding exon of the Clns1a gene. The construct was transfected into 129P2/OlaHsd-derived GK129 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. The resulting chimeric male animals were backcrossed to C57BL/6J females.
|Allele Name||targeted mutation 1, Kevin D Wickman|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Clns1a, chloride channel, nucleotide-sensitive, 1A|
|Strain of Origin||129/Sv|
|Molecular Note||The first coding exon was replaced by a neomycin cassette.|
|Mutations Made By|| |
David Clapham, Janelia Research Campus, Howard Hughes Medical Institute
This strain originated on a B6;129P2 background and has been backcrossed to C57BL/6J for at least 5 generations (8/11/2000).
When using the IClnKO mouse strain in a publication, please cite the originating article(s) and include JAX stock #003781 in your Materials and Methods section.