OMIA:001458-9823 : Hypotrichosis, juvenile with age-dependent emphysema in Sus scrofa (pig)
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 130700 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal co-dominant
Considered a defect: yes
Key variant known: no
Species-specific name: Juvenile hairlessness and age-dependent emphysema
Mapping: Similarity of the phenotype with an integrin beta 6 knock-out mouse disorder led Bruun et al. (2009) to show (via linkage mapping with just 4 microsatellites in the comparative candidate region, namely on SSC15) that this disorder in pigs maps to the location of this gene (ITGB6) in pigs. Physical mapping (via the the IMpRH radiation hybrid panel) of the porcine ITGB6 gene to this same region confirmed the location of the disorder. However, no lesion in the porcine version of this gene nor in the gene for the other subunit of integrin beta 6 (ITGAV) have yet been found.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: "hairlessness until puberty, thin skin with few hair follicles and absence of musculi arrectores pili, and at puberty or later localized areas of emphysema are seen in the lungs" (Bruun et al., 2009). Bruun et al. (2013) presented substantial evidence confirming that this mutant line of pigs is a very good model for human emphysema.
Cite this entry
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.
|2013||Bruun, C.S., Jensen, L.K., Leifsson, P.S., Nielsen, J., Cirera, S., Jørgensen, C.B., Jensen, H.E., Fredholm, M. :|
|Functional Characterization of a Porcine Emphysema Model. Lung , 2013. Pubmed reference: 24043489. DOI: 10.1007/s00408-013-9504-2.|
|2008||Bruun, C.S., Jørgensen, C.B., Bay, L., Cirera, S., Jensen, H.E., Leifsson, P.S., Nielsen, J., Christensen, K., Fredholm, M. :|
|Phenotypic and genetic characterization of a novel phenotype in pigs characterized by juvenile hairlessness and age dependent emphysema. BMC Genomics 9:283, 2008. Pubmed reference: 18549483. DOI: 10.1186/1471-2164-9-283.|
- Created by Frank Nicholas on 09 Sep 2008
- Changed by Frank Nicholas on 03 Oct 2011
- Changed by Frank Nicholas on 20 Sep 2013