OMIA:001985-9913 : Dwarfism, Fleckvieh in Bos taurus (taurine cattle)
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s) (MIM number): 610393 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2016
Species-specific description: FN thanks Hubert Pausch for advice on updating this entry.
History: This form of proportionate dwarfism in Fleckvieh cattle was first reported by Gottwald (1967).
Mapping: In a preprint posted on the Cold Spring Harbor bioRxiv preprint server on 15th January 2016, Schwarzenbacher et al. (2016) reported mapping this autosomal recessive disorder to a "1.85 Mb segment (14.88 Mb – 16.73 Mb)" segment of chromosome BTA3. A peer-reviewed version of this paper (by the same authors; see list below) was published on 31 March.
Molecular basis: In a preprint posted on the Cold Spring Harbor bioRxiv preprint server on 15th January 2016, Schwarzenbacher et al. (2016) documented the likely causal mutation as a 1bp frameshift deletion on chromosome BTA3: rs723240647, g.15079217delC, ENSBTAT00000027126:c.4285_4287delCCCinsCC, p.Glu1430LysfsX66 in exon 20 of the GON4L gene. A peer-reviewed version of this paper (by the same authors; see list below) was published on 31 March.
Clinical features: As reported by Schwarzenbacher et al. (2016): "Twenty-seven calves (16 males and 11 females) with strikingly low birth weight (~15kg) and size despite normal gestation length were noticed among the descendants of an artificial insemination bull. Four affected calves were clinically and pathologically examined. At age 61, 97, 101 and 143 days, they were underweight at 42, 79, 53 and 51 kg, respectively. The calves had multiple craniofacial aberrations (i.e., brachygnatia inferior, elongated narrow heads, structural deformities of the muzzle) and spinal distortions. Wrinkled skin, areas with excessive skin and a disproportionately large head became evident during rearing . . . . Although the general condition, feed intake and locomotion of the animals were normal, their growth remained restricted. The average weight gain of an affected animal during a hospitalisation period of 400 days was only 450 g per day, i.e. less than half the weight gain of healthy Fleckvieh bulls."
Simmental (Cattle) (VBO_0000380).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GON4L||gon-4-like (C. elegans)||Bos taurus||3||NC_037330.1 (14942221..15038555)||GON4L||Homologene, Ensembl , NCBI gene|
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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|
|778||Simmental (Cattle)||Dwarfism, Fleckvieh||GON4L||deletion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||3||g.15024245del||c.4286del||p.(G1430Kfs*66)||rs723240647||rs723240647||2016||27036302||Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446 210909: to be consistent with HGVS, FN changed g.15079217delC to g.15079217del. An examination of the information for rs723240647 indicated that c.4285_4287delCCCinsCC should be changed to c.4286del|
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.
|2016||Schwarzenbacher, H., Wurmser, C., Flisikowski, K., Misurova, L., Jung, S., Langenmayer, M.C., Schnieke, A., Knubben-Schweizer, G., Fries, R., Pausch, H. :|
|A frameshift mutation in GON4L is associated with dwarfism in Fleckvieh cattle bioRxiv preprint first posted online Jan. 15, 2016 :, 2016. DOI: 10.1101/036889.|
|Schwarzenbacher, H., Wurmser, C., Flisikowski, K., Misurova, L., Jung, S., Langenmayer, M.C., Schnieke, A., Knubben-Schweizer, G., Fries, R., Pausch, H. :|
|A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle. Genet Sel Evol 48:25, 2016. Pubmed reference: 27036302 . DOI: 10.1186/s12711-016-0207-z.|
|1967||Gottwald, V.W. :|
|Über das Vorkommen von Zwergwuchs in der Nachzucht eines Fleckviehbullen Reprod Domest Anim 2:63-67, 1967.|
- Created by Frank Nicholas on 03 Mar 2016
- Changed by Frank Nicholas on 03 Mar 2016
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