OMIA:001790-9615 : Chondrodysplasia, Labrador in Canis lupus familiaris (dog)

Categories: Skeleton phene (incl. short stature & teeth)

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 132400 (trait) , 183900 (trait) , 108300 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: no

Inheritance: A segregation analysis conducted by Smit et al. (2011) provided evidence for autosomal recessive inheritance.

Markers: Using the comparative positional candidate gene strategy, Smit et al. (2011) investigated 8 candidate genes from three potential human homologous disorders (see MIM numbers above) in 8 affected and 14 related normal dogs, but could not find a causal mutation.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Labrador Retriever (Dog) (VBO_0200800).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2013). OMIA:001790-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2011 Smit, JJ., Temwitchitr, J., Brocks, BA., Nikkels, PG., Hazewinkel, HA., Leegwater, PA. :
Evaluation of candidate genes as a cause of chondrodysplasia in Labrador retrievers. Vet J 187:269-71, 2011. Pubmed reference: 20018534. DOI: 10.1016/j.tvjl.2009.11.009.

Edit History


  • Created by Frank Nicholas on 23 Apr 2013
  • Changed by Frank Nicholas on 23 Apr 2013