OMIA 001645-10036 : Coat colour, black tremor in Mesocricetus auratus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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 - no genomic information (-..-) Atrn 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
Black tremor Atrn insertion, gross (>20) 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

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.
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.

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