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Abortion (embryonic lethality), BTBD17-related
Abortion (embryonic lethality), BTBD17-related
  Discussion

Currently no test offered being reported. BRR has not yet been estimated, as there is no known genetic test available. Inheritance of this variant indicates that XX DSD is a complex trait in which breed genetic background affects penetrance. Furthermore, the homozygous variant genotype is associated with embryonic lethality in at least one breed. Origional Publication: 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.

  Genetics
Inheritance
Multifactorial
OMIA
002132
OMIA Variant
000851
OMIA URL
https://www.omia.org/OMIA002132/9615/
OMIN
Gene
BTBD17
Variants
g.6048201_6048202insG; c.85+206_85+207insG
Variants Comments
ROS_Cfam_1.0:g.6720627_6720628insG ENSCAFT00845033049.1:c.85+206_85+207insG
  Testing
Test Types
dwn_cnd_
Assessments
Unspecified or Other
Assays
dwn_cnd_
Connections
  • Updated
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