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The Krd deletion, Del(19)TgN8052Mm, was generated by a non-targeted transgene insertion into the distal region of mouse Chr 19(Keller et al. 1994). The length of the deletion was estimated to beapproximately 5 cM from the recombination rate of flanking mark-ers. Three deleted genes were identified in the original report:Pax2, Scd1, and the coat color mutation pale ear (ep).The kidney and retinal degeneration observed in Krd/+ hetero-zygotes includes early development of renal cysts, a low frequencyof unilateral or bilateral agenesis of the kidney, and disorganiza-tion of the retinal cell layers (Keller et al. 1994). Retinal develop-ment is disrupted owing to the absence of a small population ofprecursor cells (Otteson et al. 1998). We originally suggested thatthese abnormalities were caused by haploinsufficiency for thepaired box domain transcription factor gene Pax2, which is in-volved in the early stages of organogenesis of the kidney and retina(Dressler 1996). This prediction was confirmed by the identifica-tion of human patients with point mutations in PAX2 and abnor-malities similar to the Krd mouse (Sanyanusin et al. 1995; Schi-menti et al. 1997) and by characterization of a point mutation in themouse (Favor et al. 1996). Mice homozygous for the Krd deletiondo not survive to birth and appear to be lost at an early, pre-implantation stage (Keller et al. 1994).There is currently renewed interest in mouse chromosomaldeletions because of their utility as sensitized background for mu-tagenesis (Davis and Justice 1998). To evaluate the potential of theKrd deletion for use in a sensitized mutation screen, we haveanalyzed several genes and ESTs mapped to this region of Chro-mosome (Chr) 19. To determine whether these genes were locatedwithin the deletion, we tested the ability of the deletion-bearingchromosome to transmit each locus in a cross between C57BL/6J-Krd/+ mice and strain SPRET/Ei or CAST/Ei. The Krd/+ offspringof these crosses were identified by PCR with primers derived fromthe transgene (Keller et al. 1994). Failure to transmit a C3H orC57BL/6J allele along with the Krd transgene marker indicatesthat the locus is deleted from the Krd chromosome (Keller et al.1994). Genomic DNA from the Krd/+ offspring was analyzed byuse of polymorphic differences between the parental strains (Table1). Five genes were examined by Southern blotting: Fgf8, Wnt8b,Tlx1, Pitx3 and Nkx2-3.Four of these failed to be transmitted fromthe Krd chromosome (Table 1). The Cmoat gene encoding an iontransport protein was demonstrated to be deleted by a single-stranded conformational polymorphism (SSCP) assay. The othergenes and ESTs that were tested were observed to be transmittedto the Krd/+ F

Identification of genes within the Krd deletion on mouse Chromosome 19