OMIA 000545-93934 : Hypotrophic axonopathy in Coturnix japonica

Possibly relevant human trait(s) and/or gene(s) (MIM number): 162280

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1993

Species-specific name: Quiver quail; hax

Species-specific description: This behavioural disorder is characterised by quivering of the head or body.

Molecular basis: The disorder is due to a nonsense mutation in codon 114 of the gene for neurofilament protein, light polypeptide (NEFL), resulting in no functional NEFL protein (Ohara et al., 1993).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NEFL neurofilament, light polypeptide Coturnix japonica 22 NC_029537.1 (2100083..2104408) NEFL Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Quv (quiver) strain Hypotrophic axonopathy NEFL nonsense (stop-gain) c.352C>T p.Q114* 1993 8468353

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.
2001 Sheykholeslami, K., Kaga, K., Mizutani, M. :
Auditory nerve fiber differences in the normal and neurofilament deficient Japanese quail. Hear Res 159:117-24, 2001. Pubmed reference: 11520639.
Sheykholeslami, K., Kaga, K., Tsuzuku, T., Mizutani, M. :
Electrophysiological measures of auditory function in the neurofilament-deficient mutant quail (Quv). Hear Res 153:115-22, 2001. Pubmed reference: 11223302.
2000 Toyoshima, I., Kato, K., Sugawara, M., Wada, C., Okawa, S., Kobayashi, M., Masamune, O., Watanabe, S. :
Massive accumulation of M and H subunits of neurofilament proteins in spinal motor neurons of neurofilament deficient Japanese quail, Quv Neuroscience Letters 287:175-178, 2000. Pubmed reference: 10863023.
1999 Hirai, T., Mizutani, M., Kimura, T., Ochiai, K., Umemura, T., Itakura, C. :
Neurotoxic effects of 2,5-hexanedione on normal and neurofilament-deficient quail Toxicologic Pathology 27:348-353, 1999. Pubmed reference: 10356712.
Hirai, T., Mizutani, M., Ochiai, K., Umemura, T., Itakura, C. :
Distal axonopathy does not occur without neurofilament accumulation in gamma-diketone neuropathy: comparative studies of normal and neurofilament-deficient quail Acta Neuropathologica 97:552-556, 1999. Pubmed reference: 10378373.
1996 Hasegawa, H., Murayama, T., Takahashi, A., Itakura, C., Nomura, Y. :
Changes of GTP binding proteins, not neurofilament-associated proteins, in the brain of the neurofilament-deficient quail, quiver Neurochemistry International 28:221-229, 1996. Pubmed reference: 8719712.
Jiang, X.M., Zhao, J.X., Ohnishi, A., Itakura, C., Mizutani, M., Yamamoto, T., Murai, Y., Ikeda, M. :
Regeneration of myelinated fiber after crush injury is retarded in sciatic nerves of mutant japanese quails deficient in neurofilaments Acta Neuropathologica 92:467-472, 1996. Pubmed reference: 8922058.
1995 Takahashi, A., Mizutani, M., Itakura, C. :
Acrylamide-induced peripheral neuropathy in normal and neurofilament-deficient Japanese quails Acta Neuropathologica 89:17-22, 1995. Pubmed reference: 7709725.
Zhao, J.X., Ohnishi, A., Itakura, C., Mizutani, M., Yamamoto, T., Hojo, T., Murai, Y. :
Smaller axon and unaltered numbers of microtubules per axon in relation to number of myelin lamellae of myelinated fibers in the mutant quail deficient in neurofilaments Acta Neuropathologica 89:305-312, 1995. Pubmed reference: 7610761.
1994 Hasegawa, H., Murayama, T., Takahashi, A., Itakura, C., Nomura, Y. :
The monoamine content of the brain in the neurofilament- deficient quail, (the Quiver quail) Biological & Pharmaceutical Bulletin 17:1053-1055, 1994. Pubmed reference: 7820106.
Takahashi, A., Mizutani, M., Itakura, C. :
Acrylamide-induced neurotoxicity in the central nervous system of Japanese quails. Comparative studies of normal and neurofilament-deficient quails Journal of Neuropathology and Experimental Neurology 53:276-283, 1994. Pubmed reference: 8176411.
Zhao, J.X., Ohnishi, A., Itakura, C., Mizutani, M., Yamamoto, T., Hayashi, H., Murai, Y. :
Greater Number of Microtubules per Axon of Unmyelinated Fibers of Mutant Quails Deficient in Neurofilaments - Possible Compensation for the Absence of Neurofilaments Acta Neuropathologica 87:332-336, 1994. Pubmed reference: 8017167.
1993 Mitsuishi, K., Takahashi, A., Mizutani, M., Ochiai, K., Itakura, C. :
beta,beta'-Iminodipropionitrile Toxicity in Normal and Congenitally Neurofilament-Deficient Japanese Quails Acta Neuropathologica 86:578-581, 1993. Pubmed reference: 8310813.
Ohara, O., Gahara, Y., Miyake, T., Teraoka, H., Kitamura, T. :
Neurofilament Deficiency in Quail Caused by Nonsense Mutation in Neurofilament-L Gene Journal of Cell Biology 121:387-395, 1993. Pubmed reference: 8468353.
Sakaguchi, T., Okada, M., Kitamura, T., Kawasaki, K. :
Reduced Diameter and Conduction Velocity of Myelinated Fibers in the Sciatic Nerve of a Neurofilament-Deficient Mutant Quail Neuroscience Letters 153:65-68, 1993. Pubmed reference: 8510825.
Zhao, J.X., Ohnishi, A., Itakura, C., Mizutani, M., Yamamoto, T., Hayashi, H., Murai, Y. :
Smaller Number of Large Myelinated Fibers and Focal Myelin Thickening in Mutant Quails Deficient in Neurofilaments Acta Neuropathologica 86:242-248, 1993. Pubmed reference: 8213082.
1992 Mizutani, M., Nunoya, T., Yamasaki, H., Itakura, C. :
The Hypotrophic Axonopathy Mutant in Japanese Quail Journal of Heredity 83:234-235, 1992. Pubmed reference: 1624771.
Yamasaki, H., Bennett, G.S., Itakura, C., Mizutani, M. :
Defective Expression of Neurofilament Protein Subunits in Hereditary Hypotrophic Axonopathy of Quail Laboratory Investigation 66:734-743, 1992. Pubmed reference: 1602743.
1991 Yamasaki, H., Itakura, C., Mizutani, M. :
Hereditary hypotrophic axonopathy with neurofilament deficiency in a mutant strain of the Japanese quail. Acta Neuropathol 82:427-34, 1991. Pubmed reference: 1785256.

Edit History


  • Created by Frank Nicholas on 30 Nov 2005
  • Changed by Frank Nicholas on 08 Sep 2011
  • Changed by Frank Nicholas on 12 Oct 2011
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  • Changed by Frank Nicholas on 21 Mar 2012