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Background  The promyelocytic leukemia zinc finger gene  Plzf  (also called  Zbtb16, Zfp145  or  Green's luxoid ) belongs to the POZ/zinc-finger family of transcription factors. It contains a BTB/POZ domain that mediates epigenetic transcriptional repression. PLZF is essential for proper skeleton patterning and male germ cell renewal. Two alleles have been reported that display similar phenotypes: a targeted knock-out, and the spontaneous nonsense mutation  luxoid .    Results  We describe a new ENU induced missense allele of  Plzf  called seven toes ( Plzf  7 t  ). Homozygous animals exhibit hindlimb and axial skeleton abnormalities. Whereas the skeletal abnormalities are similar to those of the other alleles,  Plzf  7 t   differs in that it does not cause spermatogonial depletion and infertility. Positional cloning revealed a point mutation changing the evolutionarily conserved amino acid Glu44 to Gly, possibly altering the BTB domain's activity.    Conclusions   Plzf  7 t   is a separation-of-function allele that reveals differential requirements for domains of PLZF in different developmental milieus.

An allele separating skeletal patterning and spermatogonial renewal functions of PLZF