RGD Reference Report - The mouse mutation Pdn (Polydactyly Nagoya) is caused by the integration of a retrotransposon into the Gli3 gene. - Rat Genome Database

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The mouse mutation Pdn (Polydactyly Nagoya) is caused by the integration of a retrotransposon into the Gli3 gene.

Authors: Thien, H  Rüther, U 
Citation: Thien H and Rüther U, Mamm Genome. 1999 Mar;10(3):205-9.
RGD ID: 12738140
Pubmed: PMID:10051311   (View Abstract at PubMed)

Mutations in the Gli3 gene are associated with a preaxial polydactyly in several mouse mutants such as extra-toes (Xt). The semidominant mouse mutant Pdn (Polydactyly Nagoya) is characterized by a mild polydactyly on the anterior side of the hind limbs. Homozygous Pdn mice show a more severe polydactyly, additional skeletal malformations, and abnormal brain development. Herein, we report the molecular basis of Pdn, being the integration of an Early Transposon (ETn) into the Gli3 gene. As a consequence, several novel Gli3 mRNAs are generated by alternatively spliced transcripts.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
polydactyly  ISOGli3 (Mus musculus)12738140; 12738140DNA:insertionRGD 
polydactyly  IAGP 12738140DNA:insertionRGD 

Objects Annotated

Genes (Rattus norvegicus)
Gli3  (GLI family zinc finger 3)

Genes (Mus musculus)
Gli3  (GLI-Kruppel family member GLI3)

Genes (Homo sapiens)
GLI3  (GLI family zinc finger 3)


Additional Information