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Spondylocostal Dysostosis, Autosomal Recessive

Breed: Miniature Schnauzer/ Black

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
Spondylocostal Dysostosis, Autosomal Recessive
Mutation
c.126delG
Mutation 2
p.(Thr43ProfsTer24)
Mutation 3
g.32945846
Test Type
Genetic Disease/Disorder
Details
Spondylocostal Dysostosis causes gross deformites in puppies. According to researchers Willet et al (2015) this includes: "truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number." Also, "The three affected pups were born stillborn or died within hours of birth...The hindquarters of affected pups were reduced in size compared to the forequarters, giving an overall comma-like morphology to the body... One of the affected samples had umbilical hernia and another had a cleft hard palate."
Details 2
As reported by Willet et al. (2015), "The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number." Also, "The three affected pups were born stillborn or died within hours of birth. Gross external examination of the pups by the attending veterinarian revealed a reduction in body length compared with normal littermates (data not available). The hindquarters of affected pups were reduced in size compared to the forequarters, giving an overall comma-like morphology to the body". One of the affected samples had umbilical hernia and another had a cleft hard palate. (Willet et al. 2015, from OMIA)
Published
Willet, C.E., Makara, M., Reppas, G., Tsoukalas, G., Malik, R., Haase, B., Wade, C.M. : Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs. PLoS One 10:e0117055, 2015. Pubmed reference: 25659135. DOI: 10.1371/journal.pone.0117055.

Breed Specific Info

Researched Breeds
Miniature Schnauzer

Breed Specific Data

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
HES7
Mutation
unpublished

BioBank AS

GTP Name
BioBank AS
Gene Name
HES7
Mutation
unpublished

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
HES7
Mutation
unpublished

CMSCH

GTP
GTP Name
CMSCH
Gene Name
HES7
Mutation
unpublished

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
Gene Name
HES7
Mutation
unpublished
Nature of test
mutation test
FCI Number
183
GTP Breed
Miniature Schnauzer/ Black

INNO

GTP
GTP Name
INNO
Gene Name
HES7
Mutation
unpublished

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
HES7
Mutation
unpublished

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
HES7
Mutation
unpublished

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
HES7
Mutation
unpublished

VHL Genetics

GTP Name
VHL Genetics
Gene Name
HES7
Mutation
unpublished

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
Gene Name
HES7
Mutation
unpublished
Nature of test
mutation test
FCI Number
183
GTP Breed
Miniature Schnauzer/ Black

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
HES7
Mutation
unpublished
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