OMIA 001985-9913 : Dwarfism, Fleckvieh in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 610393 (gene)

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."

Breed: Fleckvieh.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GON4L gon-4-like (C. elegans) Bos taurus 3 NC_037330.1 (14949870..15038555) GON4L Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 Fleckvieh 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

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.
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.

Edit History


  • Created by Frank Nicholas on 03 Mar 2016
  • Changed by Frank Nicholas on 03 Mar 2016
  • Changed by Frank Nicholas on 04 Mar 2016
  • Changed by Frank Nicholas on 11 Apr 2016
  • Changed by Imke Tammen2 on 16 Sep 2021