OMIA 002114-9913 : Hypotrichosis, KRT71-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 615896

Mendelian trait/disorder: yes

Considered a defect: unknown

Key variant known: yes

Year key variant first reported: 2010

Molecular basis: Markey et al. (2010): 5:g.27505486delTGTGCCCA, c.334delTGTGCCCA, p.Met93AsnfsX14 (as gleaned from McClure and McClure, 2016)

Breed: Hereford.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KRT71 keratin 71, type II Bos taurus 5 NC_037332.1 (27330888..27339248) KRT71 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
Hereford Hypotrichosis, KRT71-related KRT71 deletion, small (<=20) UMD3.1 5 g.27505486delTGTGCCCA c.334delTGTGCCCA p.Met93AsnfsX14 2010 Reference not in PubMed; see OMIA 002114-9913 for reference details Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)

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.
2016 McClure, M.C., McClure, J. :
Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition) https://www.icbf.com/wp/?page_id=2170 :, 2016.
2010 Markey, A.D., Taylor, J.F., Schnabel, R.D., McKay, S.D., McClure, M.C., Beever, J.E.. :
A Deletion Mutation in Krt71 is Associated with Congenital Hypotrichosis in Hereford Cattle. Plant & Animal Genomes XVIII Conference, San Diego, 9-13 January 2010 :552, 2010.

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  • Created by Frank Nicholas on 21 Jul 2017