A copy number variation (CNV) on human chromosome 16p11.2 is among the most common genetic variations found in autism spectrum disorders (ASD). Patients with this deletion display motor deficits, speech/language delay, and cognitive impairments, accompanied by ASD, attention deficit hyperactivity disorder (ADHD), seizures, and hearing disorders. Conversely, a duplication of 16p11.2 is associated with schizophrenia. The chromosome 16p11.2 CNV encompasses 26 genes that are highly conserved on mouse chromosome 7F3.
16p11flx is a Cre or FLP recombinase-inducible mouse model of 16p11.2 deletion that has several loxP and frt sites flanking the 440 kbp region on mouse chromosome 7F3. Homozygous mice (16p11flx) are viable and fertile with no reported gross physical or behavioral abnormalities.
Following Cre or FLP-mediated deletion of the entire region, a membrane-targeted fluorescent reporter gene (mCherry) is expressed. The donating investigator reports that for imaging large-scale anatomical structures, such as white matter tracts, mCherry fluorescence is very strong. For identification of single neuronal cell-bodies, however, immunohistochemical fluorescence might improve the outcome.
Mice with deletion of the genomic segment (16p11-) are available at The Jackson Laboratory as Stock No. 025100.
The 16p11flx model was created using two independent targeting events. Although the loxP/frt region near Coro1a is in relatively close proximity (440 kbp) to the loxP/frt region near Spn, the two loci have a small chance of segregating independently of one another. The donating investigator reports they never observed any crossing over between the two loci and they always segregated together.
Additionally, breeding heterozygous mice together at The Jackson Laboratory results in mice that are black, light chinchilla or albino. This suggests the 16p11flx mice we received retained mESC-derived allele(s) at the tyrosinase locus (e.g., Tyrc and/or Tyrc-ch) that, because it is only ~40 kbp proximal on chromosome 7, appears to be segregating along with the 16p11flx region. Depending upon future segregation patterns, available mice may be black, light chinchilla or albino.
