The detail information of Neutropenia, cyclic
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2003

Species-specific name: Grey Collie Syndrome; Gray Collie Syndrome

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB79 Collie 61-66 cm (male), 55.9-61 cm (female) 27.2-34 kg (male), 22.7-29.5 kg (female)
Associated Gene
There are no associated genes.
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.
2010 Meng,R.,Bridgman,R.,Toivio-Kinnucan,M.,Niemeyer,GP.,Vernau,W.,Hock,T.,Lothrop,CD.: :
Neutrophil elastase-processing defect in cyclic hematopoietic dogs. Exp Hematol 38:104-15, 2010.
Pubmed reference: 19941936 . DOI: 10.1016/j.exphem.2009.09.010 .
2008 Pacheco,J.M.,Traulsen,A.,Antal,T.,Dingli,D.: :
Cyclic neutropenia in mammals. Am J Hematol 83:920-1, 2008.
Pubmed reference: 18951469 . DOI: 10.1002/ajh.21295 .
2004 Benson,KF.,Person,RE.,Li,FQ.,Williams,K.,Horwitz,M.: :
Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia. Nucleic Acids Res 32:6327-33, 2004.
Pubmed reference: 15576359 . DOI: 10.1093/nar/gkh974 .
2004 Horwitz,M.,Benson,KF.,Duan,Z.,Li,FQ.,Person,RE.: :
Hereditary neutropenia: dogs explain human neutrophil elastase mutations. Trends Mol Med 10:163-70, 2004.
Pubmed reference: 15059607 . DOI: 10.1016/j.molmed.2004.02.002 .
2003 Benson,K.F.,Li,F.Q.,Person,R.E.,Albani,D.,Duan,Z.,Wechsler,J.,Meade-White,K.,Williams,K.,Acland,G.M.,Niemeyer,G.,Lothrop,C.D.,Horwitz,M.: :
Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase Nature Genetics 35:90-6, 2003.
Pubmed reference: 12897784 . DOI: 10.1038/ng1224 .
2003 Yanay,O.,Barry,S.C.,Katen,L.J.,Brzezinski,M.,Flint,L.Y.,Christensen,J.,Liggitt,D.,Dale,D.C.,Osborne,W.R.: :
Treatment of canine cyclic neutropenia by lentivirus-mediated G-CSF delivery Blood 102:2046-52, 2003.
Pubmed reference: 12750178 . DOI: 10.1182/blood-2002-12-3722 .
1996 Allen,W.M.,Pocock,P.I.,Dalton,P.M.,Richards,H.E.,Aitken,M.M.: :
Cyclic neutropenia in Collies Veterinary Record 138:371-372, 1996.
Pubmed reference: 8737267 .
1995 Brabb,T.,Maggioprice,L.,Dale,D.,Deeb,B.,Liggitt,D.: :
Pancreatic adenocarcinoma in two grey collie dogs with cyclic hematopoiesis Laboratory Animal Science 45:357-362, 1995.
Pubmed reference: 7474871 .
1991 Lothrop,C.D.,Candler,R.V.,Pratt,H.L.,Urso,I.M.,Jones,J.B.,Carroll,R.C.: :
Characterization of Platelet Function in Cyclic Hematopoietic Dogs Experimental Hematology 19:916-922, 1991.
Pubmed reference: 1893969 .
1978 Dunn,C.D.R.,Jones,J.B.,Jolly,J.D.,Lange,R.D.: :
Cell proliferation of canine cyclic hematopoietic marrow in diffusion chambers Proceedings of the Society for Experimental Biology and Medicine 158:50-53, 1978.
Pubmed reference: 351627 .
1978 Yang,T.J.: :
Recovery of hair coat colour in Gray Collie (cyclic neutropenia) normal bone marrow transplant chimeras American Journal of Pathology 91:149-153, 1978.
Pubmed reference: 347941 .
1975 Cheville,N.F.: :
The Grey Collie syndrome (cyclic neutropenia) Journal of the American Animal Hospital Association 11:350-352, 1975.
1974 Adamson,J.W.,Dale,D.C.,Elm,R.J.: :
Regulation of cyclic erthropoiesis in the Grey Collie Journal of Clinical Investigation 52:1A abstract, 1974.
1974 Adamson,J.W.,Dale,D.C.,Elm,R.J.: :
Hematopoiesis in the Grey Collie dog : studies of the regulation of erythropoiesis Journal of Clinical Investigation 54:965-973, 1974.
Pubmed reference: 4430726 . DOI: 10.1172/JCI107837 .
1973 Patt,H.M.,Lund,J.E.,Maloney,M.A.: :
Cyclic hematopoiesis in grey Collie dogs: a stem cell problem Blood 42:873-884, 1973.
Pubmed reference: 4796766 .
1972 Dale,D.C.,Alling,D.W.,Wolff,S.M.: :
Cyclic hematopoiesis: the mechanism of cyclic neutropenia in Grey Collie dogs Journal of Clinical Investigation 51:2197-2204, 1972.
Pubmed reference: 5054472 . DOI: 10.1172/JCI107027 .
1971 Reynold,H.Y.,Dale,D.C.,Wolff,S.M.,Johnson,J.S.: :
Serum immunoglobulin levels in Grey Collies Society for Experimental Biology and Medicine 136:574-577, 1971.
1970 Lund,J.E.,Padgett,G.A.,Gorham,J.R.: :
Additional evidence on the inheritance of cyclic neutropenia in the dog Journal of Heredity 61:47-49, 1970.
Pubmed reference: 5529685 .
1967 Lund,J.E.,Padgett,G.A.,Ott,R.L.: :
Cyclic neutropenia in Grey Collie dogs Blood 29:452-461, 1967.
Pubmed reference: 6067150 .