OMIA 000306-9031 : Dwarfism, crooked neck in Gallus gallus

In other species: Japanese quail

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 180901 , 180902 , 180903

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Species-specific symbol: cn

Clinical features: "Homozygotes (-/-) are edemic and dwarfed with crooked, fragile necks, thin amuscular legs, and no voluntary muscle contractions" (Robb et al., 2011)

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.
2011 Robb, EA., Gitter, CL., Cheng, HH., Delany, ME. :
Chromosomal mapping and candidate gene discovery of chicken developmental mutants and genome-wide variation analysis of MHC congenics. J Hered 102:141-56, 2011. Pubmed reference: 21273214. DOI: 10.1093/jhered/esq122.
1997 Oppenheim, R.W., Prevette, D., Houenou, L.J., Pinconraymond, M., Dimitriadou, V., Donevan, A., Odonovan, M., Wenner, P., Mckemy, D.D., Allen, P.D. :
Neuromuscular development in the avian paralytic mutant crooked neck dwarf (cn/cn) - further evidence for the role of neuromuscular activity in motoneuron survival Journal of Comparative Neurology 381:353-372, 1997. Pubmed reference: 9133573.
1993 Airey, J.A., Baring, M.D., Beck, C.F., Chelliah, Y., Deerinck, T.J., Ellisman, M.H., Houenou, L.J., Mckemy, D.D., Sutko, J.L., Talvenheimo, J. :
Failure to Make Normal alpha-Ryanodine Receptor Is an Early Event Associated with the Crooked Neck Dwarf (cn) Mutation in Chicken Developmental Dynamics 197:169-188, 1993. Pubmed reference: 8219359. DOI: 10.1002/aja.1001970303.
Airey, J.A., Deerinck, T.J., Ellisman, M.H., Houenou, L.J., Ivanenko, A., Kenyon, J.L., Mckemy, D.D., Sutko, J.L. :
Crooked Neck Dwarf (cn) Mutant Chicken Skeletal Muscle Cells in Low Density Primary Cultures Fail to Express Normal alpha- Ryanodine Receptor and Exhibit a Partial Mutant Phenotype Developmental Dynamics 197:189-202, 1993. Pubmed reference: 8219360. DOI: 10.1002/aja.1001970304.
1966 Allenspach, A.L. :
The reopening process of the esophagus in the normal chick and the crooked neck dwarf mutant Journal of Embryology and Experimental Morphology 15:67-76, 1966. Pubmed reference: 5915173.
1963 Herrmann, H., Clark, E.M., Landauer, W. :
Muscle development in the crooked neck dwarf mutant and in the acetylpyridine - treated chick embryo Acta Embryologiae et Morphologiae Experimentalis 6:169-174, 1963.
1931 Jull, M.A., Quinn, J.P. :
Inheritance in poultry: data on the genetics of vulture hock, hen feathering and “crooked neck” in the domestic fowl Journal of Heredity 22:147-154, 1931.

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  • Created by Frank Nicholas on 26 Feb 2011