Craniofacial phenotypes in segmentally trisomic mouse models for Down syndrome

Joan T. Richtsmeier, Ann Zumwalt, Elaine J. Carlson, Charles J. Epstein, Roger H. Reeves

Research output: Contribution to journalArticlepeer-review

105 Scopus citations


Trisomy for chromosome 21 (Chr 21) has profound effects on development that result in a constellation of phenotypes known as Down syndrome (DS). Distinctive craniofacial manifestations are among the few features common to all individuals with DS. The characteristic face of a person with DS results primarily from maldevelopment of the underlying craniofacial skeleton. The Ts65Dn mouse, which has segmental trisomy 16, producing dosage imbalance for about half the genes found on human Chr 21, exhibits specific skeletal malformations corresponding directly to the craniofacial dysmorphogenesis in DS. Here we demonstrate that Ts1Cje mice, which are at dosage imbalance for about 3/4 of the genes triplicated in Ts65Dn, demonstrate a very similar pattern of anomalies in the craniofacial skeleton. However, one characteristic of Ts65Dn mice, a broadening of the cranial vault contributing to brachycephaly, is not seen in Ts1Cje mice. These observations independently confirm that a dosage imbalance for mouse genes orthologous to those on human Chr 21 has corresponding effects in both species. The subtle differences in the craniofacial phenotypes of Ts1Cje and Ts65Dn mice have implications for elucidation of the mechanisms by which this aneuploidy disrupts development.

Original languageEnglish (US)
Pages (from-to)317-324
Number of pages8
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - Feb 1 2002

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)


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