Cecr2 mutant mice as a model for human cat eye syndrome

Abstract Cat eye syndrome (CES), a human genetic disorder caused by the inverted duplication of a region on chromosome 22, has been known since the late 1890s. Despite the significant impact this disorder has on affected individuals, models for CES have not been produced due to the difficulty of eff...

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Autores principales:	Renée Dicipulo, Kacie A. Norton, Nicholas A. Fairbridge, Yana Kibalnyk, Sabrina C. Fox, Lisa K. Hornberger, Heather E. McDermid
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/10cb6b6defd64d99b27429d0d6caef7e
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spelling	oai:doaj.org-article:10cb6b6defd64d99b27429d0d6caef7e2021-12-02T14:06:55ZCecr2 mutant mice as a model for human cat eye syndrome10.1038/s41598-021-82556-y2045-2322https://doaj.org/article/10cb6b6defd64d99b27429d0d6caef7e2021-02-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-82556-yhttps://doaj.org/toc/2045-2322Abstract Cat eye syndrome (CES), a human genetic disorder caused by the inverted duplication of a region on chromosome 22, has been known since the late 1890s. Despite the significant impact this disorder has on affected individuals, models for CES have not been produced due to the difficulty of effectively duplicating the corresponding chromosome region in an animal model. However, the study of phenotypes associated with individual genes in this region such as CECR2 may shed light on the etiology of CES. In this study we have shown that deleterious loss of function mutations in mouse Cecr2 effectively demonstrate many of the abnormal features present in human patients with CES, including coloboma and specific skeletal, kidney and heart defects. Beyond phenotypic analyses we have demonstrated the importance of utilizing multiple genetic backgrounds to study disease models, as we see major differences in penetrance of Cecr2-related abnormal phenotype between mouse strains, reminiscent of the variability in the human syndrome. These findings suggest that Cecr2 is involved in the abnormal features of CES and that Cecr2 mice can be used as a model system to study the wide range of phenotypes present in CES.Renée DicipuloKacie A. NortonNicholas A. FairbridgeYana KibalnykSabrina C. FoxLisa K. HornbergerHeather E. McDermidNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Renée Dicipulo Kacie A. Norton Nicholas A. Fairbridge Yana Kibalnyk Sabrina C. Fox Lisa K. Hornberger Heather E. McDermid Cecr2 mutant mice as a model for human cat eye syndrome
description	Abstract Cat eye syndrome (CES), a human genetic disorder caused by the inverted duplication of a region on chromosome 22, has been known since the late 1890s. Despite the significant impact this disorder has on affected individuals, models for CES have not been produced due to the difficulty of effectively duplicating the corresponding chromosome region in an animal model. However, the study of phenotypes associated with individual genes in this region such as CECR2 may shed light on the etiology of CES. In this study we have shown that deleterious loss of function mutations in mouse Cecr2 effectively demonstrate many of the abnormal features present in human patients with CES, including coloboma and specific skeletal, kidney and heart defects. Beyond phenotypic analyses we have demonstrated the importance of utilizing multiple genetic backgrounds to study disease models, as we see major differences in penetrance of Cecr2-related abnormal phenotype between mouse strains, reminiscent of the variability in the human syndrome. These findings suggest that Cecr2 is involved in the abnormal features of CES and that Cecr2 mice can be used as a model system to study the wide range of phenotypes present in CES.
format	article
author	Renée Dicipulo Kacie A. Norton Nicholas A. Fairbridge Yana Kibalnyk Sabrina C. Fox Lisa K. Hornberger Heather E. McDermid
author_facet	Renée Dicipulo Kacie A. Norton Nicholas A. Fairbridge Yana Kibalnyk Sabrina C. Fox Lisa K. Hornberger Heather E. McDermid
author_sort	Renée Dicipulo
title	Cecr2 mutant mice as a model for human cat eye syndrome
title_short	Cecr2 mutant mice as a model for human cat eye syndrome
title_full	Cecr2 mutant mice as a model for human cat eye syndrome
title_fullStr	Cecr2 mutant mice as a model for human cat eye syndrome
title_full_unstemmed	Cecr2 mutant mice as a model for human cat eye syndrome
title_sort	cecr2 mutant mice as a model for human cat eye syndrome
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/10cb6b6defd64d99b27429d0d6caef7e
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Cecr2 mutant mice as a model for human cat eye syndrome

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