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Article

Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis.

The Journal of clinical investigation - 1 Jan 2009

Kuss Pia, Villavicencio-Lorini Pablo, Witte Florian, Klose Joachim, Albrecht Andrea N, Seemann Petra, Hecht Jochen, Mundlos Stefan

Abstract excerpt

Individuals with the birth defect synpolydactyly (SPD) have 1 or more digit duplicated and 2 or more digits fused together. One form of SPD is caused by polyalanine expansions in homeobox d13 (Hoxd13). Here we have used the naturally occurring mouse mutant that has the same mutation, the SPD homolog (Spdh) allele, and a similar phenotype, to investigate the molecular pathogenesis of SPD. A transgenic approach and...

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Identifiers

PMID: 19075394
DOI: 10.1172/JCI36851
PMCID: PMC2613457

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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