OMIA:001437-9913 : Lactoglobulin, beta, aberrant low expression in Bos taurus (taurine cattle)

Categories: Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 173310 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2006

Mapping: This trait maps to the actual LBG gene (11q28)

Molecular basis: Braunschweig and Leeb (2006) showed that a "C to A transversion at position 215 bp upstream of the translation initiation site" of the beta-lactoglobulin (LBG) gene segregates with aberrant low expression of beta-lactoglobulin. Other symbols for this gene are BLG and PAEP, the latter being the official NCBI symbol.

Breed: Brown Swiss (Cattle) (VBO_0000166).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PAEP progestagen-associated endometrial protein Bos taurus 11 NC_037338.1 (103255756..103260862) PAEP Homologene, Ensembl , NCBI gene


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.

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
428 Brown Swiss (Cattle) Beta-lactoglobulin, aberrant low expression PAEP regulatory Naturally occurring variant ARS-UCD1.2 11 g.103255964C>A c.-215C>A "C to A transversion at position 215 bp upstream of the translation initiation site" rs5334475105 2006 17033029 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001437-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2006 Braunschweig, MH., Leeb, T. :
Aberrant low expression level of bovine beta-lactoglobulin is associated with a C to A transversion in the BLG promoter region. J Dairy Sci 89:4414-9, 2006. Pubmed reference: 17033029. DOI: 10.3168/jds.S0022-0302(06)72488-2.
1996 Kim, J.S., Braunschweig, M., Puhan, Z. :
Occurrence of extreme ratio of β-lactoglobulin variants A and B in Swiss Brown cattle quantified by capillary electrophoresis. Milchwissenschaft 51:435-438, 1996.

Edit History

  • Created by Frank Nicholas on 27 Oct 2010
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 05 Aug 2013
  • Changed by Frank Nicholas on 11 Nov 2016
  • Changed by Imke Tammen2 on 23 Oct 2022
  • Changed by Imke Tammen2 on 18 Dec 2023
  • Changed by Imke Tammen2 on 18 Jun 2024