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Publication : A new allele of Gli3 and a new mutation, circletail (Crc), resulting from a single transgenic experiment.

First Author  Rachel RA Year  2002
Journal  Genesis Volume  33
Issue  2 Pages  55-61
PubMed ID  12112872 Mgi Jnum  J:77245
Mgi Id  MGI:2181242 Doi  10.1002/gene.10088
Citation  Rachel RA, et al. (2002) A new allele of Gli3 and a new mutation, circletail (Crc), resulting from a single transgenic experiment. Genesis 33(2):55-61
abstractText  Summary: 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. genesis 33:55-61, 2002.
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