OMIA:000545-93934 : Axonopathy, hypotrophic in Coturnix japonica (Japanese quail) |
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 162280 (gene) , 617882 (trait) , 607734 (trait) , 607684 (trait)
Links to MONDO diseases: No links.
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).
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| NEFL | neurofilament, light polypeptide | Coturnix japonica | 22 | NC_029537.1 (2100075..2104807) | NEFL | Homologene, Ensembl , NCBI gene |
Variants
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 316 | Hypotrophic axonopathy | NEFL | nonsense (stop-gain) | Naturally occurring variant | c.352C>T | p.(Q114*) | 1993 | 8468353 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:000545-93934: 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.
| 2001 | 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. | |
| 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. | |
| 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., 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. | |
| 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. | |
| 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
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Mar 2012