The detail information of Spondylocostal dysostosis, autosomal recessive
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive Lethal
Considered a defect: yes
Year key mutation first reported: 2015
Species-specific name: -
Species-specific symbol: SCD
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB161 | Miniature Schnauzer | 30.5-35.6 cm | 5-9.1 kg | Germany |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| HES7 | hes family bHLH transcription factor 7 | Canis lupus familiaris | Chr5 : 33052693 - 33047237 | Homologene, Ensembl, NCBI gene |
References
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.
| 2015 |
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 . |