OMIA 001348-9544 : Atrichia with papular lesions in Macaca mulatta

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 209500 , 602302

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2002

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
HR hair growth associated Macaca mulatta 8 NC_041761.1 (22302024..22279151) HR 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.

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
Atrichia with papular lesions HR nonsense (stop-gain) MMUL_1 8 g.22046679C>T c.1831C>T p.R611* 2002 11831740 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Reference


2002 Ahmad, W., Ratterree, M.S., Panteleyev, A.A., Aita, V.M., Sundberg, J.P., Christiano, A.M. :
Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene Laboratory Animals 36:61-67, 2002. Pubmed reference: 11831740.

Edit History


  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 14 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011