A new allele of Gli3 and a new mutation, circletail (Crc), resulting from a single transgenic experiment.
While generating transgenic lines, transgene-linked mutations can occur, which are caused by an insertional mutation at a given locus. More rarely, mutations unlinked to the transgene insertion site are observed. In the process of generating a mouse overexpressing the enzyme tyrosinase, we have obtained one transgenic line that appears to carry a semidominant insertional mutation at the Gli3 (extra toes) locus, characterized by polydactyly and skeletal malformations. Additionally, the transgenic line contained a second mutation, Crc (circletail), which appears to be unlinked to the transgene insertion site. Heterozygous Crc mice are incompletely penetrant for a circled-tail phenotype, while all homozygous Crc/Crc mice die at birth of a severe neural tube defect (craniorachischisis). Anatomical evidence from a Crc/Crc; Gli3/+ fetus indicates that these two genes may interact.
Rachel
Rivka A
RA
Center for Neurobiology and Behavior, College of Physicians and Surgeons, Columbia University, New York, New York, USA. rrachel@ncifcrf.gov
Wellington
Sandra J
SJ
Warburton
Dorothy
D
Mason
Carol A
CA
Beermann
Friedrich
F
D000483:Alleles; D000818:Animals; D004268:DNA-Binding Proteins / Q000235:genetics*; D004843:Epistasis, Genetic; D017404:In Situ Hybridization, Fluorescence; D051741:Kruppel-Like Transcription Factors; D051379:Mice; D008810:Mice, Inbred C57BL; D008822:Mice, Transgenic; D014442:Monophenol Monooxygenase / Q000235:genetics; D016254:Mutagenesis, Insertional; D009419:Nerve Tissue Proteins; D012160:Retina / Q000166:cytology; D014157:Transcription Factors / Q000235:genetics*; D000074290:Zinc Finger Protein Gli3
D004268:DNA-Binding Proteins; C465571:Gli3 protein, mouse; D051741:Kruppel-Like Transcription Factors; D009419:Nerve Tissue Proteins; D014157:Transcription Factors; D000074290:Zinc Finger Protein Gli3; D014442:Monophenol Monooxygenase