OMIA 001224-9986 : Craniosynostosis in Oryctolagus cuniculus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 112240 , 123100 , 123101 , 123150 , 123155 , 180750 , 182212 , 190440 , 218530 , 218550 , 218600 , 218649 , 218650 , 257920 , 600593 , 600775

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: no

Cross-species summary: Premature closure of the cranial sutures

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2017 Gilbert, J.R., Cray, J.J., Kreithen, A., Marazita, M.L., Cooper, G.M., Losee, J.E., Siegel, M.I., Mooney, M.P. :
Genetic Homozygosity and Phenotypic Variability in Craniosynostotic Rabbits. Cleft Palate Craniofac J 54:94-99, 2017. Pubmed reference: 26882022. DOI: 10.1597/15-226.
1999 Losken, H.W., Mooney, M.P., Zoldos, J., Tschakaloff, A., Burrows, A.M., Smith, T.D., Cano, G., Arnott, R., Sherwood, C., Dechant, J., Cooper, G.M., Kapucu, M.R., Siegel, M.I. :
Coronal suture response to distraction osteogenesis in rabbits with delayed-onset craniosynostosis. J Craniofac Surg 10:27-37, 1999. Pubmed reference: 10388423.
1998 Mooney, M.P., Burrows, A.M., Wigginton, W., Singhal, V.K., Losken, H.W., Smith, T.D., Dechant, J., Towbin, A., Cooper, G.M., Towbin, R., Siegel, M.I. :
Intracranial volume in craniosynostotic rabbits. J Craniofac Surg 9:234-9, 1998. Pubmed reference: 9693554.
Mooney, M.P., Siegel, M.I., Burrows, A.M., Smith, T.D., Losken, H.W., Dechant, J., Cooper, G., Fellows-Mayle, W., Kapucu, M.R., Kapucu, L.O. :
A rabbit model of human familial, nonsyndromic unicoronal suture synostosis. II. Intracranial contents, intracranial volume, and intracranial pressure. Childs Nerv Syst 14:247-55, 1998. Pubmed reference: 9694336.
Mooney, M.P., Siegel, M.I., Burrows, A.M., Smith, T.D., Losken, H.W., Dechant, J., Cooper, G., Kapucu, M.R. :
A rabbit model of human familial, nonsyndromic unicoronal suture synostosis. I. Synostotic onset, pathology, and sutural growth patterns. Childs Nerv Syst 14:236-46, 1998. Pubmed reference: 9694335.
1996 Mooney, M.P., Aston, C.E., Siegel, M.I., Losken, H.W., Smith, T.D., Burrows, A.M., Wenger, S.L., Caruso, K., Siegel, B., Ferrell, R.E. :
Craniosynostosis with autosomal dominant transmission in New Zealand white rabbits Journal of Craniofacial Genetics & Developmental Biology 16:52-63, 1996.
1937 Nachtsheim, H. :
Erbpathologische Untersuchungen am Kaninchen [Investigation of inherited defects in rabbits] Z. indo Abst. u. Vererbgs 73:463-466, 1937. DOI: 10.1007/BF01847500.

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  • Created by Frank Nicholas on 06 Sep 2005