OMIA:002132-9615 : Lethality, BTBD17-related in Canis lupus familiaris (dog)

Categories: Mortality / aging (incl. embryonic lethal)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive lethal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Cross-species summary: Renamed, previously listed as 'Abortion (embryonic lethality), BTBD17-related' [12/06/2023]

Species-specific description: See also 'OMIA:000901-9615 : XX difference of sexual development, generic in Canis lupus familiaris' for the association of the BTBD17 variant with differences in sexual development.

Inheritance: Meyers-Wallen et al. (2017): "Because genotyping results at the 6048201 locus indicated that the G+G+ [homozygous for the G insertion] genotype was uncommon in XX DSD purebred pet dogs (3% G+G+, . . . ), but common in mixed breed XX DSD in the model pedigree (83% G+G+, . . . ), we hypothesized this genotype was deleterious in purebred dogs. Therefore, we genotyped pedigrees from purebred and crossbred breeding experiments in which the probability of G+G+ offspring varied from 0.25–0.5 . . . . All offspring were born alive and birth weights within the same litter were similar. None of the offspring were G+G+ genotype, including crossbred offspring sired by males from the model pedigree that had previously produced G+G+ and G+/- XX DSD offspring (sires C734 and C752, . . . ). These results indicated that embryonic lethality was associated with the G+G+ genotype in the GSHP genetic background."

Molecular basis: Meyers-Wallen et al. (2017) reported that the homozygous genotype for a variant in intron 1 of the BTBD17 gene ("a guanine insertion (G+) at CFA9: 6048201–6048202 . . . , rs852549625)") is associated with embryonic lethality in dogs with German shorthair pointer background. Meadows et al. (2023) investigated the presence of 463 likely causal variants in whole genome sequencing data of dogs in the Dog10K collection and identified that the BTBD17 variant reported by Meyers-Wallen et al. (2017) was homozygous in 179 dogs and heterozygous in 407 dogs from various breeds, while 1172 dogs were homozygous for the wildtype allele. The variant is therefore unlikely to be causal, and the association with homozygous lethality may be specific to German Shorthaired Pointers.

Breed: German Shorthaired Pointer (Dog) (VBO_0200583).
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
BTBD17 BTB (POZ) domain containing 17 Canis lupus familiaris 9 NC_051813.1 (6719394..6725404) BTBD17 Homologene, Ensembl , NCBI gene


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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.

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
851 German Shorthaired Pointer (Dog) Abortion (embryonic lethality), BTBD17-related BTBD17 insertion, small (<=20) Naturally occurring variant CanFam3.1 9 g.6048201_6048202insG c.85+206_85+207insG ROS_Cfam_1.0:g.6720627_6720628insG ENSCAFT00845033049.1:c.85+206_85+207insG; the homozygous variant genotype is associated with embryonic lethality in German Shorthaired Pointer, but may not be causal as the variant was observed at a high frequency in both heterozygous and homozygous form across normal dogs from multiple breeds (PMID:37582787) rs852549625 2017 29053721

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002132-9615: 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.

2023 Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. :
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7.
2017 Meyers-Wallen, V.N., Boyko, A.R., Danko, C.G., Grenier, J.K., Mezey, J.G., Hayward, J.J., Shannon, L.M., Gao, C., Shafquat, A., Rice, E.J., Pujar, S., Eggers, S., Ohnesorg, T., Sinclair, A.H. :
XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris). PLoS One 12:e0186331, 2017. Pubmed reference: 29053721. DOI: 10.1371/journal.pone.0186331.

Edit History

  • Created by Frank Nicholas on 24 Oct 2017
  • Changed by Imke Tammen2 on 12 Jun 2023
  • Changed by Imke Tammen2 on 18 Aug 2023
  • Changed by Imke Tammen2 on 01 Oct 2023