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OMIA:001224-9986 : Craniosynostosis in Oryctolagus cuniculus (rabbit)

Categories: Skeleton phene (incl. short stature & teeth)

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

Links to MONDO diseases: No links.

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

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: New Zealand White (Rabbit) (VBO_0001269).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:001224-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2019 Gilbert, J.R., Taylor, G.M., Losee, J.E., Mooney, M.P., Cooper, G.M. :
Molecular analyses in a rabbit model of craniosynostosis: Likely exclusion of known candidate genes as the loci of origin. Cleft Palate Craniofac J 56:786-790, 2019. Pubmed reference: 30370787. DOI: 10.1177/1055665618808623.
2018 Gilbert, J.R., Losee, J.E., Mooney, M.P., Cray, J.J., Gustafson, J., Cunningham, M.L., Cooper, G.M. :
Genetic associations and phenotypic heterogeneity in the craniosynostotic rabbit. PLoS One 13:e0204086, 2018. Pubmed reference: 30235265. DOI: 10.1371/journal.pone.0204086.
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., 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.
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., 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.
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.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Imke Tammen2 on 22 Aug 2021