Ppcd1

A spontaneous mutation in the embryonic cell line containing Portm1Cbk. Although initially identified as a duplication, the mutation contains a 3.9 Mbp chromosomal inversion flanked by 81 Kbp and 542 bp deletions. The deletion encompasses the 3' ends of Kat14 (exon 8 through 11) and Dzank1 (6330439K17Rik) (exon 20 and 21) as well as all of Zfp133-ps. The distal breakpoint of the inversion is a fusion between Chr2:144479015 bp, located in Intron 19 of Dzank1, and Chr2:148326553 bp, located 68824 bp 5' of the gene Sstr4. Quantitative RT-PCR confirmed the decreased transcript expression of the genes on either extreme of the duplicated segment in eye extracts at days 16 and 28. (J:164007, J:236024)