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Abortion (embryonic lethality), BTBD17-related
Breed: German Shorthaired Pointing Dog/ Deutsch Kurzhaar
Generic Phene Data
Breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
Abortion (embryonic lethality), BTBD17-related
OMIA
2132
Gene Name
BTBD17
Mutation
no test 2020
Test Type
Genetic Disease/Disorder
Key Comments
While the German Shorthaired Pointer has been specified, the research looked at a number of breeds and mixed-breed dogs, all apparently indicating complex inheritance.
Details
Currently know 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.
Published
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.
OMIA Url
Inheritance
ARL
Breed Specific Info
Researched Breeds
German Shorthaired Pointer
Breed-specific 1
German Shorthaired Pointer
Breed-specific 1 Details
Reported as homozygous lethal in dogs with German Shorthaired Pointer backgrounds. 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.
HSP Test-Specific Data
No Test/Unknown GTP availability
GTP
Breed
OMIA
Gene Name
BTBD17
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