OMIA:000783-9986 : Pelger-Huet anomaly in Oryctolagus cuniculus (rabbit) |
In other species: dog , domestic cat
Categories: Haematopoietic system phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 169400 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal incomplete dominant
Considered a defect: yes
Key variant known: no
Species-specific symbol: Pg
Species-specific description: See Robinson (1958, pp. 354-355).
History: This disorder was reported first in rabbits (Undritz, 1939, 1943; Klein, 1949; Nachtsheim, 1950) before it was reported in humans (Harm, 1952).
Inheritance: Undritz (1939) and Nachsteim (1950) presented evidence of single-locus inheritance, with heterozygotes showing the disorder and homozygotes showing an extreme form of the disorder, including chondrodysplasia, that results in neonatal death in almost all cases.
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:000783-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
2003 | Oosterwijk, J.C., Mansour, S., van Noort, G., Waterham, H.R., Hall, C.M., Hennekam, R.C. : |
Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes. J Med Genet 40:937-41, 2003. Pubmed reference: 14684694. | |
1977 | Holtz, C.R., Pfaff, J., Gärtner, K. : |
[Studies on the frequency of the Pelger anomaly in the domestic rabbit population]. Zentralbl Veterinarmed A 24:409-12, 1977. Pubmed reference: 407754. | |
1964 | Urasinski, I., Urasniska, A. : |
[On the activity of neutrophilic alkaline phosphatase with Pelger-Huet anomaly in rabbits]. Patol Pol 15:233-7, 1964. Pubmed reference: 14241274. | |
1958 | Robinson, R. : |
Genetic studies of the rabbit. Bibliographia Genetica 17:229–558, 1958. | |
1953 | Harm, H. : |
[Effect of colchicine on the white blood picture of Pelger and non-Pelger rabbits]. Acta Haematol 10:96-105, 1953. Pubmed reference: 13091700. | |
1952 | Harm, H. : |
Beitrage zur Morphologic und Gtnetik der Pelger-Anomalie bei Mensch und Kaninchen [Morphology and genetics of the Pelger anomaly in man and the rabbit] Zeitschrift fur menschliche Vererbungs- und Konstitutionslehre 30:501-539, 1952. | |
1950 | Nachtsheim, H. : |
The Pelger-anomaly in man and rabbit; a mendelian character of the nuclei of the leucocytes. J Hered 41:131-7, 1950. Pubmed reference: 15436969. | |
1949 | Klein, H. : |
Die Pelger-Anomalie der Leukocyten und die pathologische Anatomie des neugeborenen homozygoten Pelger-Kaninchens Zeitschrift fur menschliche Vererbungs- und Konstitutionslehre 29:551-620, 1949. | |
1943 | Undritz, E. : |
Das ausschliessliche Vorkommen reifer rundkerniger Leukozyten bei der reingezüchteten Pelger−Huëtschen Anomalie des Kaninchens und die Bedeutung der Pelger−Leukozyten in der vergleichenden Hämatologie. Folia Haemat. 67:249−291, 1943. | |
1939 | Undritz, E. : |
Das Pelger-Huetsche Blutbild beim Tier und seine Bedeutung fiir die Entwicklungsgeschichte des Blutes Schweizerische medizinische Wochenschrift 69:1177-1186, 1939. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 28 Apr 2016
- Changed by Frank Nicholas on 02 May 2016
- Changed by Tosso Leeb on 26 May 2020
- Changed by Imke Tammen2 on 23 Nov 2022