OMIA:000006-9031 : Achondroplasia, creeper in Gallus gallus (chicken) |
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 112500 (trait) , 607778 (trait) , 600726 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal incomplete dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2016
Species-specific symbol: Cp
History: This trait was one of the first pair of loci in farm animals to be shown to be linked autosomally, when Serebrovsky and Petrov (1928) reported a recombination fraction of 8% between this locus and Rose comb (OMIA 000884-9031). Linkage between these two loci was confirmed (with a smaller recombination fraction) by Landauer (1932, 1933) and Taylor (1934).
Inheritance: As summarised by Jin et al. (2016): "Genetic studies suggested that the Creeper trait was determined by a single autosomal dominant semi-lethal gene (Cp) in chicken. The Cp/Cp homozygotes are lethal during early embryonic development while the heterozygotes (Creeper) are viable with pronounced chondrodystrophy characteristic" (Cutler, 1925; Landauer and Dunn, 1930; Rudnick and Hamburger, 1940)
Molecular basis: By comparing the whole-genome sequence of 6 pairs of full-sibs from the Chinese Xingyi bantam breed, each pair comprising the same contrasting Cp genotypes (Cp/+ vs +/+), Jin et al. (2016) identified "a 11,896 bp large deletion region (chr7: 21,798,705-21,810,600) covering the entire Indian hedgehog (IHH) gene" as the likely causal mutation. Subsequent PCR genotyping for the deletion in "511 samples (embryos, n = 130; chickens, n = 381)" from Cp/+ x Cp/+ matings showed a complete association between genotype and Creeper phenotype. The authors note that "As one of the key genes driving animal body development, IHH is conserved in gene function and signaling pathway in the major animal clades and is required for embryonic bone formation in development".
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| IHH | Indian hedgehog | Gallus gallus | 7 | NC_052538.1 (21924895..21933614) | IHH | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 687 | Chinese Xingyi bantam, China (Chicken) | Achondroplasia, creeper | IHH | deletion, gross (>20) | Naturally occurring variant | Gallus_gallus-4.0 | 7 | g.21798705_21810600del | "a 11,896bp large deletion region (chr7: 21,798,705-21,810,600) covering the entire Indian hedgehog (IHH) gene" | 2016 | 27439785 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:000006-9031: 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.
| 2021 | Derks, M.F.L., Steensma, M. : |
| Review: Balancing selection for deleterious alleles in livestock. Front Genet 12:761728, 2021. Pubmed reference: 34925454. DOI: 10.3389/fgene.2021.761728. | |
| 2016 | Jin, S., Zhu, F., Wang, Y., Yi, G., Li, J., Lian, L., Zheng, J., Xu, G., Jiao, R., Gong, Y., Hou, Z., Yang, N. : |
| Deletion of Indian hedgehog gene causes dominant semi-lethal Creeper trait in chicken. Sci Rep 6:30172, 2016. Pubmed reference: 27439785. DOI: 10.1038/srep30172. | |
| 2015 | Gordon, R., Thomas, R., Foster, A. : |
| The health impact of selective breeding in poultry: A probable case of 'creeper' chicken (Gallus gallus) from 16th-century Chester, England. Int J Paleopathol 9:1-7, 2015. Pubmed reference: 29539435. DOI: 10.1016/j.ijpp.2014.11.003. | |
| 1993 | Shoffner, R.N., Otis, J.S., Garwood, V.A. : |
| Association of dominant marker traits and metric traits in chickens. Poultry Science 72:1405-1410, 1993. Pubmed reference: 8378215. | |
| 1976 | Fujio, Y. : |
| Maternal effects on expression of lethality in creeper chicken Japanese Journal of Genetics 51:347-354, 1976. DOI: 10.1266/jjg.51.347. | |
| 1974 | Fujio, Y., Shibuya, T. : |
| Expression of lethality caused by creeper gene in chicken Japanese Journal of Genetics 49:87-91, 1974. DOI: 10.1266/jjg.49.87. | |
| 1972 | Shibuya, T., Fujio, Y., Kondo, K. : |
| Studies on action of creeper gene in Japanese chicken Japanese Journal of Genetics 47:23-32, 1972. DOI: 10.1266/jjg.47.23. | |
| 1971 | Dinner, B.J. : |
| Chemical analysis of embryonic creeper chicken tibia (conference abstract) Journal of Dental Research 50:704 only, 1971. DOI: 10.1177/00220345710500032601. | |
| 1969 | Wallace, H., Clyman, R.I., Pierro, L.P. : |
| Nucleic acid deficiency in the prothanic homozygous mutant of creeper fowl. J Exp Zool 172:245-52, 1969. Pubmed reference: 5372813. DOI: 10.1002/jez.1401720209. | |
| 1968 | Elmer, W.A. : |
| In vitro and in situ analyses of the inhibitory effect of creeper tissues. J Exp Zool 169:381-9, 1968. Pubmed reference: 5752052. DOI: 10.1002/jez.1401690311. | |
| Elmer, W.A. : | |
| Experimental analysis of the creeper condition in chickens. Effect of embryo extract on elongation, protein content, and incorporation of amino acids by cartilaginous tibiotarsi. Dev Biol 18:76-92, 1968. Pubmed reference: 5669504. | |
| Martin, C. : | |
| [Action of paraminobenzenesulfamide and nicotinamide on the development of the embryos of Leghorn and Creeper strain chickens]. C R Acad Sci Hebd Seances Acad Sci D 266:1320-2, 1968. Pubmed reference: 4232099. | |
| 1964 | Elmer, W.A., Pierro, L.J. : |
| The Creeper trait in chickens and growth of tibiotarsi invitro (conference abstract) American Zoologist 4:381 only, 1964. DOI: 10.1093/icb/4.4.37. | |
| 1963 | Kieny, W., Kieny, M. : |
| [Research on the nature of a factor inhibiting the growth of long bones in the Creeper breed of chicken]. Dev Biol 7:324-41, 1963. Pubmed reference: 14032521. | |
| 1949 | Warren, DC. : |
| Linkage relations of autosomal factors in the fowl. Genetics 34:333-50, 1949. Pubmed reference: 17247319. | |
| 1944 | Landauer, W. : |
| Length of survival of homozygous creeper fowl embryos. Science 100:553-4, 1944. Pubmed reference: 17758679. DOI: 10.1126/science.100.2607.553. | |
| 1943 | Landauer, W., Bliss, C.I. : |
| Studies on the Creeper Fowl. XV. Maternal Inheritance in Survival of Embryos from Reciprocal Crosses Involving the Creeper Factor. Genetics 28:218-26, 1943. Pubmed reference: 17247083. | |
| 1941 | Cairns, J.M. : |
| The early lethal action of the homozygous creeper factor in the chick Journal of Experimental Zoology 88:481–503, 1941. | |
| 1940 | Rudnick, D., Hamburger, V. : |
| On the Identification of Segregated Phenotypes in Progeny from Creeper Fowl Matings. Genetics 25:215-24, 1940. Pubmed reference: 17246966. | |
| 1938 | Warren, D.C. : |
| Mapping the genes of the fowl (abstract) Genetics 23:174 only, 1938. DOI: 10.1093/genetics/23.1.139. | |
| 1934 | Hutt, F.B. : |
| Inherited lethal characters in domestic animals Cornell Veterinarian 24:1-25, 1934. | |
| Taylor, L.W. : | |
| Creeper and single-comb linkage in the fowl. Journal of Heredity 25:205-206, 1934. | |
| 1933 | Landauer, W. : |
| Creeper and single-comb linkage in fowl. Nature 132:606 only, 1933. | |
| 1932 | Landauer, W. : |
| Studies on the Creeper Fowl. V. The linkage of the genes for Creeper and Single-comb. Journal of Genetics 26:285-290, 1932. | |
| Landauer, W. : | |
| Studies in the Creeper Fowl. III. The early development and lethal expression of homo zygous Creeper embryos. Journal of Genetics 25:367-394, 1932. | |
| 1930 | Dunn, L.C., Landauer, W. : |
| Further data on a case of autosomal linkage in the domestic fowl Journal of Genetics 22:95-101, 1930. | |
| Landauer, W., Dunn, L.C. : | |
| Studies on the Creeper fowl. I. Genetics Journal of Genetics 23:397-413, 1930. | |
| 1928 | Serebrovsky, A.S., Petrov, S.G. : |
| A case of close autosomal linkage in the fowl Journal of Heredity 19:305-306, 1928. | |
| 1926 | Dunn, L.C., Landauer, W. : |
| The lethal nature of the "creeper" variation in the domestic fowl. American Naturalist 60:574-575, 1926. | |
| 1925 | Cutler, I.E. : |
| Reptilian fowls - a study in atavistic heredity Journal of Heredity 16:353-356, 1925. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 05 Jan 2013
- Changed by Frank Nicholas on 10 Jan 2013
- Changed by Frank Nicholas on 28 Apr 2016
- Changed by Frank Nicholas on 04 Aug 2016
- Changed by Imke Tammen2 on 23 Nov 2022