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24, chemin de Borde Rouge -Auzeville - CS52627 31326 Castanet Tolosan cedex - France

Last update: May 2021

Menu Logo Principal AgroParisTech Université Paris-Saclay SAPS - Sciences Animales Paris-Saclay


GABI : Génétique Animale et Biologie IntégrativeUnité Mixte de Recherche INRA - AgroParisTech

The National Observatory for Bovine Anomalies

National Observatory of Bovine Anomalies
The appearance of genetic anomalies is inevitable. They result from certain random DNA mutations. Their eradication has become much easier with the recent progress of molecular tools. The most critical point is the observation of their emergence and their clinical description which ONAB coordinates at a national level amongst the different actors.

Genetic anomalies emerge on a regular basis in livestock populations. Their appearance is practically inevitable.They are the result of DNA mutations that we cannot control. Even though they are not heterozygous (the mutation is then considered as being recessive), they can spread in a population over several generations without being recognized. Active surveillance is therefore necessary to detect these emerging abnormalities remembering that these first cases are detected late and are always made after the original mutation has occurred and spread throughout a population.

Searching for a mutation responsable for a specific anomaly requires several steps :

1) Identification of the emergence of an anomaly

2) Clinical description of the anomaly. This is a crutial step in order to guarentee the uniqueness of the pathology studied and to choose the appropriate direction for the genetic research

3) Sample collection (blood, ears, ....) from affected individuals in order to obtain DNA

4) Genetic analyses using genotyping and sequencing

Much progress has been made recently in genomics tools, providing a way to isolate a gene responsable for an anomaly much more rapidly. A diagnostic DNA test which allows the identification of diseases, carrier and non-carrier animals, is the only efficient way to eradicate anomalies in a population.

The first steps of observation of an emergence, clinical characterisation and sampling are the most difficult and require organisation and coordination and the intervention of many different actors on the field.


Cécile Grohs (INRAE) and Coralie Danchin (IDELE) are in charge of these observations coordinated by the National Observatory for Bovine Anomalies in partnership with Françoise Dion (veterinary doctor, Races de France).

See also

>>> Web :


Floriot S., Vesque C., Rodriguez S., Bourgain-Guglielmetti F., Karaiskou A., Gautier M., Duchesne A., Barbey S., Fritz S., Vasilescu A., Bertaud M., Moudjou M., Halliez S., Cormier-Daire V., El Hokayem J., Nigg E.A., Manciaux L., Guatteo R., Cesbron N., Toutirais G., Eggen A., Schneider-Maunoury S., Boichard D., Sobczak-Thépot J., Schibler L.  2015. C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle. Nature Communications, 6, 6894.

Michot P., Fantini O., Braques R., Allais-Bonnet A., Saintilan R., Grohs C., Barbieri J., Genestout L., Danchin C., Gourreau J.M., Boichard D., Pin D., Capitan A. 2015. Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 22 of the Integrin Beta 4 Gene in a Charolais calf with Junctional Epidermolysis Bullosa. Genetics Selection Evolution, 47, 37.

Michot P., Chahory S., Marete A., Grohs C., Dagios D., Donzel E., Aboukadiri A., Deloche M.C., Allais-Bonnet A., Chambrial M., Barbey S., Boussaha M., Danchin-Burge C., Fritz S., Boichard D., Capitan A. 2016. A reverse genetic approach identifies an ancient frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds. Genetics Selection Evolution, 48, 56.

Duchesne A., Vaiman A., Castille J., Beauvallet C., Gaignard P., Floriot S., Rodriguez S., Vilotte M., Boulanger L., Passet B., Albaric O., Guillaume F., Boukadiri A., Richard L., Bertaud M., Timsit E., Guatteo R., Jaffrézic F., Calvel P., Mahla R., Esquerré D., Péchoux C., Liu S., Vallat J.M., Boichard D., Slama A., Vilotte J.L. 2017. Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health. Plos Genet., 13, e1006597.

Michot P., Fritz S., Barbat A., Boussaha M., Deloche M.C., Grohs C., Hoze C., Le Berre L., Le Bourhis D., Desnoes O., Salvetti P., Schibler L., Boichard D., Capitan A. 2017. A missense mutation in PFAS is likely causal for embryonic lethality associated with the MH1 haplotype in Montbeliarde dairy cattle. J Dairy Sci, 100, 8176–8187.

Bourneuf E., Otz P., Pausch H., Jagannathan V., Michot P., Grohs C., Piton G., Ammermüller S., Deloche M.C., Fritz S., Leclerc H., Péchoux C., Boukadiri A., Saintilan R., Créchet F., Mosca M., Segelke D., Guillaume F., Bouet S., Baur A., Vasilescu A., Genestout L., Thomas A., Allais-Bonnet A., Rocha D., Colle M.A., Klopp C., Esquerré D., Wurmser C., Flisikowski K., Schwarzenbacher H., Burgstaller J., Brügmann M., Dietschi E., Huth N., Freick M., Barbey S., Fayolle G., Danchin-Burge C., Schibler L., Bed’hom B., Hayes B.J., Daetwyler H.D., Fries R., Boichard D., Pin D., Drögemüller C., Capitan A. 2017. Rapid Discovery of De Novo Deleterious Mutations in Cattle Using Genome Sequence Data: Enhancing the Value of Farm Animals as Model Species. Scientific Reports, 7: 11466.

Fritz S., Hoze C., Rebours E., Barbat A., Bizard M., Chamberlain A., Escouflaire C., Vander Jagt C., Boussaha M., Grohs C., Allais-Bonnet A., Philippe M., Vallee A., Amigues Y., Hayes B.J., Boichard D., Capitan A. 2018. An initiator codon mutation in SDE2 causes recessive embryonic lethality in Holstein cattle. J Dairy Sci, 101, 6220-6231.

Duchesne A., Vaiman A., Frah M., Floriot S., Rodriguez S., Desmazieres A., Fritz S., Beauvallet C., Albaric O., Venot E., Bertaud M., Guatteo R., Esquerre D., Brice A., Vilotte J.L., Darios F., Stevanin G., Boichard D., El Hachimi K.H. 2018. Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination. Plos Genetics, 14: e1007550.

Uddin M.M., Hoze C., Michot P., Barbat A., Lefebvre R., Boussaha M., Sahana G., Fritz S., Boichard D., Capitan A. 2019. A missense mutation (p.Tyr452Cys) on CAD gene compromises reproductive success in dairy cattle. J Dairy Sci., 102:6340–6356.

Escouflaire C, Rebours E, Charles M, Orellana S, Cano M, Rivière J, Grohs C, Hayes H, Capitan A. A de novo 3.8-Mb inversion affecting the EDA and XIST genes causes generalized Hypohidrotic Ectodermal Dysplasia in a heterozygous female calf. BMC Genomics, 20, 715.

Hozé C, Escouflaire C., Mesbah-Uddin M., Barbat A., Boussaha M., Deloche M.C., Boichard D., Fritz S., Capitan A. 2019 Short Communication: A splice site mutation in CENPU is associated with recessive embryonic lethality in Holstein cattle. J Dairy Sci, accepté le 2/09/19.

Capitan A., Boichard D. 2019. Nouvelles approches pour l'étude des anomalies génétiques et utilisation du bovin comme modèle animal. Bulletin de l’Académie Vétérinaire de France, accepté.

Numéro spécial de Productions Animales

Boichard D., Grohs C. , Danchin C., Capitan A. 2016. Anomalies génétiques : définition, principes et concepts. INRA Productions Animales, 29, 297-306.
Grohs C., Duchesne A., Floriot S., Deloche M.C., Boichard D., Ducos A., Danchin C. 2016. L’Observatoire National des Anomalies Bovines. INRA Productions Animales, 29, 307-318.

Duchesne A, Grohs C, Michot P, Boichard D, Floriot S, Fritz S., Capitan A. 2016. Du phénotype à la mutation causale d’anomalies récessives. INRA Productions Animales, 29, 319-328.

Fritz S., Michot P, Hoze C., Grohs C, Barbat A., Boussaha M., Boichard D, Capitan A. 2016. Anticiper l’émergence d’anomalies génétiques grâce aux données génomiques. INRA Productions Animales, 29, 339-350.

Boichard D, Grohs C, Michot P, Danchin C, Capitan A, Genestout L, Barbier S., Fritz S. 2016. Prise en compte des anomalies génétiques en sélection. INRA Productions Animales, 29, 351-358.