Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2017
Species-specific name: autosomal recessive congenital ichthyosis
Species-specific symbol: ARCI
More detail information can see in
iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
---|---|---|---|---|---|---|
CB264 | American Bulldog | 55.9-68.6 cm (male), 50.8 to 63.5 cm (female) | 34-45.5kg(male),27.2-36.3kg(female) | United States |
Symbol | Description | Species | Position | Other Links |
---|---|---|---|---|
NIPAL4 | NIPA-like domain containing 4 | Canis lupus familiaris | Chr4 : 53184445 - 53171446 | Homologene, Ensembl, NCBI gene |
2019 |
Briand,A.,Cochet-Faivre,N.,Reyes-Gomez,E.,Jaraud-Darnault,A.,Tiret,L.,Chevallier,L.: :
NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy. Vet Med Sci 5:112-117, 2019. Pubmed reference: 30741495 . DOI: 10.1002/vms3.149 . |
2017 |
Casal,M.L.,Wang,P.,Mauldin,E.A.,Lin,G.,Henthorn,P.S.: :
A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. PLoS One 12:e0170708, 2017. Pubmed reference: 28122049 . DOI: 10.1371/journal.pone.0170708 . |
2015 |
Mauldin,E.A.,Wang,P.,Evans,E.,Cantner,C.A.,Ferracone,J.D.,Credille,K.M.,Casal,M.L.: :
Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency. Vet Pathol 52:654-62, 2015. Pubmed reference: 25322746 . DOI: 10.1177/0300985814551425 . |
2013 |
Mauldin,E.A.: :
Canine ichthyosis and related disorders of cornification. Vet Clin North Am Small Anim Pract 43:89-97, 2013. Pubmed reference: 23182326 . DOI: 10.1016/j.cvsm.2012.09.005 . |