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DNA & Health Tests for Cattle

Miniature-Cattle.com DNA and Health Tests for Cattle Genetic Mutations: 10 interesting facts
Related Article: Chondrodysplasia Dwarfism in Miniature Cattle
Related Article: Coat Color Genetics in Cattle with links to other major cattle color genetics sites
Related Article: Online list of labs & tests offered ; maintained by VGL, UC Davis
email Donna Grace

Tests for Cattle

Abp Agouti -- Patterned blackish -- a modifier of wild type that is similar to the wild-type pattern, but nearly entirely black and autosomal. Dominant in the presence of E+. (Holstein, Jersey, Brown Swiss, Brahman)

aw Agouti -- White-bellied agouti -- removal of red pigment and a part of the black pigment while causing more uniform distribution of black pigmentation, especially across the sides of the animal. (Brown Swiss, Grey Steppe)

af Agouti -- Fawn -- removal of red and black pigmentation, particularly red along the underline and along the back (dorsal strip), resulting in tan to fawn color. (Limousin, Chianina, Jersey, Brahman, Grey Steppe)

BSE -- Mad Cow Disease. Test determines Resistance vs Susceptibility. [Lab: Biogenetic Services]

BVD-PI Bovine Virus Diarrhea--Persistent Infection. [Labs: Biogenetic Services, Neogen]

open full-size chart in separate window

click on chart to open full size version in separate window

Extension Black and Red Coat Color is determined by the Melanocortin 1 Receptor (MC1R) gene, also called Extension, which controls the production of black (eumelanin) and red (phaeomelanin) pigments. The illustration above shows the genetic probability of the results when breeding black and red cattle together (click to open full-size in separate window). The MC1R DNA test identifies 3 gene variants that affect the coat color of both beef and dairy cattle. Black (ED) is dominant. The Wild type (E+) produces cattle with reddish brown to brownish black coloration with a tan muzzle ring. Wild red is usually homozygous in the colored dairy breeds (Jersey, Guernsey, etc.). True red (e) is recessive and is only expressed when two copies are present. The DNA test for MC1R does not detect these alleles. [Labs that test Extension: Biogenetic Services, UC Davis VGL, Zoetis]

In Holsteins, there are two other variants that can mask the effects of the MC1R (Extension) alleles. These are known as 'Black/Red' (red color changes to black) and 'Variant Red' (red that is dominant over black).

D2 Dwarfism (Long-Headed proportionate) (Angus)

FAA – Fertility-Associated Antigen; a test for bulls. Positive bulls are 16–19% more fertile than the average. Backed by University Research on thousands of bulls, the ReproTest is a test for Heparin Binding Protein (an indicator of fertility). It is an objective measure of a bull's fertility. [Lab: Reprotec]

Freemartin: Freemartinism is a gender abnormality in cattle. It is not caused by a genetic mutation, but is a condition that occurs in utero 9 times out of 10 in heifers that are born fraternal twins to a bull calf (twin heifers are normal). Without a test, many producers simply cull any heifer twin to a bull. Then Genetic Visions developed a DNA based test to identify the presence of the Y chromosome. Since females are XX and males are XY, a positive Y chromosome test result in a heifer born twin to a bull indicates the freemartin condition. The number of cells containing the Y chromosome will be greatest at birth, but it is a lifelong condition, that can be tested for at any time. [Labs: AgriGenomics, Genetic Visions, VGL UC Davis]

Hypotrichosis There are quite a few variants that result in abnormal, thin or balding hair in many breeds of cattle.

Johnes Disease [Lab: Biogenetic Services]

LRP4 Mulefoot (Syndactyly) at least 4 known variants occur in Holstein, Angus, Simmental and Charolais. [Lab: Zoetis]

Parentage testing [Labs: Biogenetic Services, Neogen] Neogen Parentage testing and genetic tests are for private use only and not intended for any association or registry.

Pregnancy testing [Labs: Biogenetic Services, Neogen]

DNA Tests: Beef Breeds

Arachnomelia-SM Spiderleg is a simple lethal recessive gene defect in cattle. Affected animals are born with elongated limbs and facial deformities. There are two versions of this defect originating in Brown Swiss and Simmental cattle.

AM Arthrogryposis Multiplex (Curly Calf Syndrome) (Angus) >> GAR Precision 1680 & Rito 9J9 of B156 7T26 No. 9682589 [Labs: AgriGenomics, Neogen, Zoetis]

AS Arachnomelia Syndrome-SM Spiderleg a missing molybdenum cofactor, leading to non functional Moco-dependent enzymes, namely sulfite oxidase, lead to aberrant bone development in bovine AS. (Braunvieh, Simmental) > traced to a daughter of a Simmental bull, Semper.

Beta (ß)-Mannosidosis (Salers)

Br -- Brindle. Dominant to non-brindle. Causes alternating stripes of black and red pigmentation in the presence of E+ wild red allele. (Olson 1999 findings; still not completely documented)

CA Congenital Contractural Arachnodactyly (Angus)

Calpain 316 / 530 Calpain 316 and 530 are genes related to meat tenderness.

CC Black /Red Coat Color (Dexter) AgriGenomics

Chediak-Higashi Syndrome (Wagyu)

BD1 Chondrodysplasia – Bulldog Dwarfism (Dexter)
BD2 Chondrodysplasia – Bulldog Dwarfism (Dexter, New Zealand)
BD(4?) Chondrodysplasia – Bulldog Dwarfism (Nelore /Nellore; a Zebu breed from Brazil)

CA Contractural Arachnodactyly– Fawn Calf Syndrome (Angus, Murray Grey) [Labs: AgriGenomics Neogen Zoetis]

CL16 Claudin 16 Deficiency (Wagyu)

DD Developmental Duplication [Labs: AgriGenomics Neogen Zoetis]

DS Digital Subluxation Though there are 2 original mutations (slightly different) which occured in completely separate populations (Chianina-DSC, Shorthorn-DSH), in both cases, the DS is in close proximity on the chromosome to Pulmonary Hyperplasia with Anasarca (PHA). A parent that is a carrier for both, is likely to pass on both mutations to its progeny. When both the DS and the PHA mutations are present, the PHA can impact the phenotype (physical appearance) of a DS Carrier.
[Labs: AgriGenomics, Neogen]

Dilution B Dexter Dun. The Dun coat color in Dexter cattle is a dilution of black pigment (eumelanin) caused by a recessive mutation in the gene tyrosinase related protein 1 (TYRP1), also known as the Brown locus. The hair color is diluted to shades of dark brown to golden. Red pigment is not diluted by this mutation. A second test for red/black pigment (MC1R or Extension gene) may be needed to determine the complete coat color genotype and possibilities for offspring color. A genetic test specific for the Dexter Dun mutation is available from VGL. (Irish Dexter) [VGL, UC Davis]

Dilution Dc Charolais. Heterozygotes exhibit strong dilution of black to light grey, red to light cream. Homozygotes are nearly white. Charolais cattle are red, but possess two alleles for dilution, which results in their white coat color. Incompletely dominant. (Charolais)

Dilution Dn Dun. Causes removal of red pigmentation with a reduced effect upon black pigment. Incompletely dominant. (Brown Swiss, Brahman, Chianina.)

Dilution Ds Simmental. Pmel17 gene. Heterozygotes show moderate dilution of black to light grey, red to light red. Homozygotes are lighter yet. Incompletely dominant. (Simmental, Hereford, Scottish Highland, Longhorn, Murray Grey, Gelbvieh) [Labs: AgriGenomics]

Factor XI deficiency found in Wagyu (like that found in Holstein). There are some similarities in the clinical symptoms in the Holstein and the Wagyu diseases, however the causative insertion mutations are on different locations of the F11 gene and these variations are considered to be responsible for the differences in severity between the breeds. Tests carried out in Australia and USA have identified the Factor XI deficiency in both Red and Black Wagyu. This implies that the F11 mutation in Wagyu occurred before the segregation into Black and Red breeds. Factor XI deficiency in Wagyu has an autosomal recessive mode of inheritance and is more prevalent in higher marbling lines.

HY Hypotrichosis -- Hairless Calf Syndrome. One of the better known variants causing Hypotrichosis. (Hereford, Belted Galloway) [Labs: AgriGenomics, Neogen]

IE Idiopathic Epilepsy (Hereford) [Labs: AgriGenomics, Neogen, Zoetis]

MA Alpha (a)-Mannosidosis (Red Angus) [LABs: AgriGenomics, Neogen]

MYO Myostatin Double Muscling Syndrome (at least 9 known variants) (Piedmontese, Belgian Blue, Blonde d'Aquitaine, Limousin, Charolais)

NH Neuropathic Hydrocephalus (Angus) [Labs: AgriGenomics, Neogen, Zoetis]

OH Oculocutaneous Hypopigmentation “White Eye” is a cosmetic genetic mutation that implicates the eyes and coat color in Angus & Simmental cattle. It's been traced back to a foundation Angus bull used in the black Simmental breed. [Labs: Neogen]

OS Osteopetrosis (Angus & Red Angus, Hereford, Simmental) [Labs: AgriGenomics, Neogen, Zoetis]

Pc/h Polled (Celtic) / Horned (Galloway, Angus, Brahman, Blonde d’Aquitaine, Charolais, Dexter, Hereford, Limousin, Shorthorn, Simmental) [Lab: Neogen] (Zebu breeds have different inheritance of the polled trait)

PHA Pulmonary Hypoplasia with Anasarca (Maine Anjou, Shorthorn)
PHAD Pulmonary Hypoplasia with Anasarca (Irish Dexter) [Lab: UC Davis VGL]

Protoporphyria (Limousin)

TH Tibial Hemimelia syndrome (Galloway, Maine Anjou, Shorthorn)

Dairy Cattle

AD+ Variant Red Coat Color, or Dominant (Variant) Red: The mutation of Dominant Red was traced back to a registered Holstein cow Surinam Sheik Rosabel-Red #HOCANF000003541221. Neither of her parents carried the recessive red gene that was the only known source of red & white Holsteins at that time. In 2013, the causative gene mutation for this trait was isolated, and Genetic Visions developed a test shortly thereafter. Variant dominant red has the benefit of superseding the traditional MC1R when present, and one or two copies of the gene will be expressed with a red phenotype. DR and MC1R are located in different parts of the genome and are passed on independently. Breeders now have more options to incorporate red animals into their Holstein herds, and the true origin of the color in each animal can be determined to better assist in mating decisions. Variant Red & Wht may be referred to as RW (homozygous) and VRC (heterozygous). AD+ Holstein—dominant over black.

Alpha S-1 Casein

Arachnomelia-BS Spiderleg is a simple lethal recessive defect in Holstein cattle. It is characterized by stillbirth, reduced body weight, shortening of the spine, and long thin limbs.

AS Arachnomelia-SM Spiderleg is a simple lethal recessive gene defect in cattle. Affected animals are born with elongated limbs and facial deformities. There are two versions of this defect originating in Brown Swiss and Simmental cattle.

BD(3?) Chondrodysplasia – Bulldog Dwarfism (Holstein)

BCN (A2) Beta-Casein: There are two genes associated with BCN that we test for, A1 and A2, and three possible genotypes: A1/A1, A1/A2, and A2/A2. There has been a lot of interest in this trait over the last decade allowing for increased marketing opportunities for A2/A2 milk. The colored dairy breeds are more likely to have the A2 gene, and A1 is more evenly distributed in Holsteins, but selective breeding may be changing this distribution. [Lab: Neogen]

BLAD Bovine Leukocyte Adhesion Deficiency: BLAD is a simple lethal recessive gene defect found in the Holstein Breed. A mutation in the CD18 gene causes a malfunction. A sticky substance normally found on the surface of leukocytes, which is essential to its ability to function, is reduced in animals that carry the gene defect. Those animals inheriting two copies of the defective gene die shortly after birth because they do not have the ability to fight minor infections. The BLAD mutation was traced back to Holstein-Friesian cattle descended from Osborndale Ivanhoe (1952).

BLG Beta-Lactoglobulin (milk yield): BLG is a major milk whey protein. It is a well-known allergen. There are two genes that have been associated with Beta-Lactoglobulin. When a sample is submitted for analysis, the results will be reported AA, AB, or BB. In the case of BLG, AA is considered the most favorable, AB is intermediate, and BB is the least favorable. In general, animals with beta·lactoglobulin genotype of AA had increased transmitting abilities for milk yield and protein yield but decreased transmitting abilities for fat.

      • AA most favorable (higher milk & protein yield, lower butterfat yield)
      • AB intermediate
      • BB least favorable

Brachyspina is a simple lethal recessive defect in Holstein cattle. It is characterized by stillbirth, reduced body weight, shortening of the spine, and long thin limbs. [Labs: Neogen Zoetis]

Citrullinemia is a simple lethal recessive gene defect. Dairy cattle inheriting two copies of the defective gene die within 5 days of birth due to their inability to eliminate ammonia. Citrullinemia is getting close to being eradicated.

CHO Chondrodysplasia – Bulldog Dwarfism (Holstein)

CVM Complex Vertebral Malformation: CVM is a simple recessive lethal syndrome found in Holstein cattle that will increase the rate of embryonic loss and number of stillbirths. Among the pregnancies that inherit the defective gene from both parents, 80% of the embryos will be lost during first 3 months of gestation, and losses continue to progress afterwards with only a few surviving to near term. A stillborn CVM calf will have a shortened neck due to malformed vertebra, fused ribs on the right side, and contracted fetlocks. The mutation was discovered in Denmark. It is important to recognize that CVM is not new. It has been present in the Holstein breed for many generations, and only the DNA test is recent.

DUMPS Deficiency of Uridine Monophosphate Synthase is a disease of Holstein cattle resulting from a simple lethal recessive gene defect that causes a failure in the synthesis of DNA. Embryos inheriting two copies of the gene defect are lost around day 40 of pregnancy. DUMPS is getting close to being eradicated.

Factor XI: A Coagulation factor XI deficiency that occurs in Holstein cattle. Factor XI (F XI) is a plasma protein that participates in the blood coagulation process. A study of the expression of F XI activity in Holstein cattle has confirmed that the inheritance of F XI deficiency is autosomal with severe deficiency in homozygotes and partial deficiency in heterozygotesis. Affected animals have a form of hemophilia with increased bleeding from wounds and potential spontaneous hemorrhaging. Their life expectancy is decreased, but they have the potential to live to maturity and procreate. This bovine disorder has been known since 1969 when it was first seen in Holstein cattle in Ohio.

Freemartin: Freemartinism is a gender abnormality in cattle. It is not caused by a mutation, but is a condition that occurs 9 times out of 10 in a heifer that is a twin to a bull calf. Without a test, many producers culled any heifer twin to a bull. But now Genetic Visions developed a DNA based test to identify the presence of the Y chromosome. Since females are XX and males are XY, a positive Y chromosome test result in a heifer born twin to a bull indicates the freemartin condition. The number of cells containing the Y chromosome will be greatest at birth, but it is a lifelong condition, that can be tested for at any time.

FMO3 Fishy Off-Flavor Milk: There is a causative mutation in the FMO3 gene of some cattle that causes fishy off-flavor milk. This defect was first seen in Swedish Red and White cattle and can now be found in Ayrshires as well. Affected animals have bodily fluids characterized by a distinct, unpleasant smell of rotting fish. Though not a lethal recessive, this is a highly unfavorable attribute.

HCD Holstein Cholesterol Deficiency is a lethal recessive defect in Holstein cattle. Affected animals lack cholesterol in their cells. Without fat, the body slowly weakens and dies. Most affected animals die between 1 to 5 months, but some have lived as long as 2 years. This long, yet futile lifespan can make HCD a very costly disease both financially and emotionally. Heterozygous carriers of the disease show lower levels of cholesterol in the blood than normal animals.

KCN Kappa·Casein: Kappa-Casein is one of four non-whey proteins and has been associated with increased cheese protein yield and percentage. There are three forms of the kappa-casein gene: A, B, and E. The B gene has been associated with an increase in milk, protein, and cheese yield. The E gene is the least favorable and linked to the A gene. Animals carry one of three gene combinations from each parent. Studies from around the world have shown that the BB genotype is the most favorable in terms of protein and cheese yield. AB is somewhate intermediate and AA is the least favorable. Potential gene combinations follow in order from most to least favorable. They are listed with the AB/AE form and combined form. Since the E gene is only associated with the A gene, the combined form replaces an A in the first set with any E’s from the second set:

      • BB/AA (BB)
      • AB/AA (AB)
      • AB/AE (BE)
      • AA/AA (AA)
      • AA/AE (AE)
      • AA/EE (EE)

Pf/h Polled (Friesian) / horned (Holstein-Friesian, Jersey) [Lab: Neogen]

SDM Spinal Dysmyelination: SDM is a simple lethal recessive gene defect in Brown Swiss cattle that is symptomatic from birth. Affected animals are never able stand and die within a week.

SMA Spinal Muscular Atrophy: SMA is a simple lethal recessive gene defect causing a wasting disease in Brown Swiss cattle with symptoms starting in the first few weeks of life. It generally starts in the rear legs and progresses forward. Once it affects the major organs and the calf is no longer able to stand, death usually occurs within a few days from pneumonia. Affected animals usually die within 6 to 8 weeks of age.

Weaver (Brown Swiss)

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10 interesting facts

  1. Genetic diseases in cattle are tissue specific viz; skeletal, central nervous system, blood, skin, muscle or ophthalmic.
  2. Genetic disease is caused by inborn abnormalities, or mutations, in genes or chromosomes.
  3. Genetic mutations are very common, and exist (probably numbering in the 100s) in most all living animals. The possibiliy of how many mutations could occur in any one population over time, is practically infinite.
  4. On the opposite end of the spectrum, is the probability of one exact same mutation happening more than once in the same breed or population of animals is close to nil. That possibility would be comparable to finding 2 unrelated people with identical fingerprints.
  5. Generally speaking, if the exact same genetic mutation is found in 2 different animals, they are related. One particular genetic mutation will be found in breeds that share history, or in specific breeds, or in certain bloodlines, depending upon how long ago the mutation occurred and has spread. IOW, 2 animals that test positive for the exact same mutation both descend from one common ancestor who first had that heritable spontaneous mutation in its DNA.
  6. Many genetic mutations are undesirable. Some are desirable. Mutations are essentially how evolution occurs.
  7. Some genetic conditions are markers for economically important or desirable traits (as an example, desirable hair for club calves may result from alleles located close on the gene to the PHA mutation, which initially led to its increase among Maine Anjou club calf cattle).
  8. There can be a number of different mutations that result in the same disease (for example, there have been at least 4 different known mutations that cause bulldog chondrodysplasia dwarfism in cattle).
  9. Each different mutation requires its own particular DNA test to identify it (the condition they cause may be identical).
  10. Genomic technology is ever-evolving. Before making any financial decisions, such as implementing DNA testing in your cattle program or even choosing a breed, check for the latest updates on research, lab-testing, products and news (I have provided a list of sources to check below). If you are not currently testing it may be prudent to collect DNA samples (e.g. tail hair) on important animals in your herd (e.g. herd bulls) and store them for potential future uses.


VGA's List of labs that currently offer DNA & health tests

Biogenetic Services biogeneticservices.com, Brookings, South Dakota
NEED to delete and replace any links for this company, appears to have either sold or gone out of business

Genetic Visions, Middleton, Wisconsin

Neogen, GeneSeek®, Igenity, SeekSire, Neogen®, Lansing Michigan
Neogen panels Igenity Beef: DNA markers for maternal traits, production traits, carcass traits, for Angus, Red Angus, Hereford, Simmental, Gelbvieh and Limousin breeds & composites.

Reprotec, Tucson, Arizona

UC Davis Veterinary Genetics Lab (VGL), California

Zoetis Genetics, Kalamazoo, MI. Zoetis Dairy Haplotype Fact Sheet
Zoetis Clarifide, Enlight, SearchPoint: Zoetis proprietary dairy gene testing panels.
Zoetis GeneMax, HD50K, I50K, PredicGEN, SireTrace, are all Zoetis proprietary gene testing panels

Coat Color in Cattle including major links to sources on internet about coat color. Featuring an informal discussion of Color Genetics in Galloway Cattle, by Alan S. Bias.

The American Grey Steppe Cattle Association, Borntograze.com

Veterinary Medicine (Eleventh Edition), 2017

Genetic Defects, Beef Cattle, April 20, 2015, by Alison Van Eenennaam, University of California, Davis
Genetic defects are hereditary conditions that result in an undesirable phenotype (i.e. disease or trait). Genetic tests now exist for many of these genetic conditions. This fact sheet details the different conditions that have been identified in breeds and the companies that do genetic testing in cattle. This article and pdf document provides an excellent overview of the genetics of cattle (and all animals), and lists tests available for different breeds of cattle and the labs that provide them.
Genetic Defects • www.eBEEF.org • 2014-9 printable pdf version.

Note: While miniature-cattle.com will work to keep this collection of information current, any helpful contributions, additions or updates is immeasurably helpful and will be appreciated by us all; email me any time donna@miniature-cattle.com.


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go home little cow

published by: Vintage Publishers
owner: ©Miniature-Cattle.com
published online: October 2018
author: Donna Grace