OMIA:001645-10036 : Coat colour, black tremor in Mesocricetus auratus (golden hamster) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 603130 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2002
Species-specific symbol: bt
Species-specific description: "The hamster black tremor (bt) mutation induces a black coat color and a defective myelination in the central nervous system (CNS) that manifests as a tremor." (Kuramoto et al., 2002)
Molecular basis: Kuramoto et al. (2002) reported "an approximately 10-kb DNA fragment, which had 557-bp direct repeats in both ends and was flanked by the identical 6-bp target duplication sequences, [that] was inserted into exon 24" as a likely causal variant.
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
Atrn | attractin | Mesocricetus auratus | NW_024429189.1 (97481852..97625086) | Atrn | 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 | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1076 | Black tremor | Atrn | insertion, gross (>20) | Naturally occurring variant | Kuramoto et al. (2002): "an approximately 10-kb DNA fragment, which had 557-bp direct repeats in both ends and was flanked by the identical 6-bp target duplication sequences, [that] was inserted into exon 24" | 2002 | 11773967 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2019). OMIA:001645-10036: 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.
2003 | Kim, H.O., Kimura, T., Ochiai, K., Yazawa, H., Itakura, C., Umemura, T. : |
Sustained hypomyelination and high serum thyroid hormone in aged black tremor hamster. Jpn J Vet Res 51:113-20, 2003. Pubmed reference: 14621228. | |
Naito, R., Murofushi, T., Mizutani, M., Kaga, K. : | |
Myelin-deficiency in the cochlear nerve of the 'bt' mutant hamster. Hear Res 176:17-24, 2003. Pubmed reference: 12583878. DOI: 10.1016/s0378-5955(02)00550-6. | |
2002 | Kuramoto, T., Nomoto, T., Fujiwara, A., Mizutani, M., Sugimura, T., Ushijima, T. : |
Insertional mutation of the Attractin gene in the black tremor hamster. Mamm Genome 13:36-40, 2002. Pubmed reference: 11773967. | |
1986 | Mizutani, M., Katsuie, Y., Umezawa, H., Kuramasu, S. : |
[Genetical analysis and characterization of a new mutant, black tremor appearing in the Syrian hamster]. Jikken Dobutsu 35:175-9, 1986. Pubmed reference: 3732409. DOI: 10.1538/expanim1978.35.2_175. |
Edit History
- Created by Frank Nicholas on 24 Oct 2011
- Changed by Frank Nicholas on 24 Oct 2011
- Changed by Frank Nicholas on 06 May 2019