OMIA 000710-9615 : Nephropathy in Canis lupus familiaris |
In other species:
pig
,
sheep
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
120131 (gene)
,
203780 (trait)
,
141200 (trait)
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2007
Cross-species summary:
Disease of the kidneys.
Species-specific name:
Autosomal recessive hereditary nephropathy
Species-specific symbol:
ARHN
Molecular basis:
By sequencing the most obvious candidate gene, Davidson et al. (2007) identified a causal mutation as "a single nucleotide substitution at base 115 as the cause of ARHN in English Cocker Spaniels. This mutation, which causes a premature stop codon in exon 3 of COL4A4 was segregated with clinical status in all affected dogs and obligate carriers".
Nowend et al. (2012) reported a different mutation in the same gene in English Springer Spaniels: "a single nucleotide substitution in COL4A4 at base 2806 resulting in a premature stop codon".
Prevalence: Andrade et al. (2020) reported the frequency of the c.115T variant as 0.9% in English Cocker Spaniels in Brazil. Breeds: English Cocker Spaniel, English Springer Spaniel, Pembroke Welsh Corgi. Associated gene:| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| COL4A4 | collagen, type IV, alpha 4 | Canis lupus familiaris | 25 | NC_051829.1 (40223035..40097773) | COL4A4 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 278 | English Springer Spaniel | Nephropathy | COL4A4 | nonsense (stop-gain) | Naturally occurring variant | CanFam3.1 | 25 | g.39893376G>A | c.2713C>T | p.(Q905*) | NM_001031818.1; NP_001026988.1; published as c.2806C>T and p.(Q904*) | 2012 | 22369189 | ||||
| 277 | English Cocker Spaniel | Nephropathy | COL4A4 | nonsense (stop-gain) | Naturally occurring variant | CanFam3.1 | 25 | g.39953906T>A | c.115A>T | p.(K39*) | 2007 | 17552442 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
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.
| 2020 | Andrade, L.R., Caceres, A.M., Trecenti, A.S., Borges, A.S., Oliveira-Filho, J.P. : | |
| Allele frequency of nonsense mutation responsible for hereditary nephropathy in English cocker spaniel dogs. Vet Anim Sci 9:100114, 2020. Pubmed reference: 32734115. DOI: 10.1016/j.vas.2020.100114. | ||
| 2013 | Lees, G.E. : | |
| Kidney diseases caused by glomerular basement membrane type IV collagen defects in dogs. J Vet Emerg Crit Care (San Antonio) 23:184-93, 2013. Pubmed reference: 23464675. DOI: 10.1111/vec.12031. | ||
| 2012 | Nowend, K.L., Starr-Moss, A.N., Lees, G.E., Berridge, B.R., Clubb, F.J., Kashtan, C.E., Nabity, M.B., Murphy, K.E. : | |
| Characterization of the genetic basis for autosomal recessive hereditary nephropathy in the English Springer Spaniel. J Vet Intern Med 26:294-301, 2012. Pubmed reference: 22369189. DOI: 10.1111/j.1939-1676.2012.00888.x. | ||
| 2007 | Davidson, AG., Bell, RJ., Lees, GE., Kashtan, CE., Davidson, GS., Murphy, KE. : | |
| Genetic cause of autosomal recessive hereditary nephropathy in the English Cocker Spaniel. J Vet Intern Med 21:394-401, 2007. Pubmed reference: 17552442. | ||
| Wakamatsu, N., Surdyk, K., Carmichael, K.P., Brown, C.A. : | ||
| Histologic and ultrastructural studies of juvenile onset renal disease in four Rottweiler dogs. Vet Pathol 44:96-100, 2007. Pubmed reference: 17197631. DOI: 10.1354/vp.44-1-96. | ||
| 2004 | McKay, LW., Seguin, MA., Ritchey, JW., Levy, JK. : | |
| Juvenile nephropathy in two related Pembroke Welsh corgi puppies. J Small Anim Pract 45:568-71, 2004. Pubmed reference: 15553196. | ||
| 2002 | Kashtan, C.E. : | |
| Animal models of Alport syndrome. Nephrol Dial Transplant 17:1359-62, 2002. Pubmed reference: 12147777. DOI: 10.1093/ndt/17.8.1359. | ||
| 2000 | Peeters, D., Clercx, C., Michiels, L., Desmecht, D., Snaps, F., Henroteaux, M., Day, M.J. : | |
| Juvenile nephropathy in a Boxer, a Rottweiler, a Collie and an Irish Wolfhound Australian Veterinary Journal 78:162-165, 2000. Pubmed reference: 10860153. | ||
| 1998 | Lees, G.E., Helman, R.G., Homco, L.D., Millichamp, N.J., Hunter, J.F., Frey, M.S. : | |
| Early diagnosis of familial nephropathy in English Cocker Spaniels Journal of the American Animal Hospital Association 34:189-195, 1998. Pubmed reference: 9590445. | ||
| Lees, G.E., Helman, R.G., Kashtan, C.E., Michael, A.F., Homco, L.D., Millichamp, N.J., Ninomiya, Y., Sado, Y., Naito, I., Kim, Y. : | ||
| A model of autosomal recessive Alport-syndrome in English Cocker Spaniel dogs Kidney International 54:706-719, 1998. Pubmed reference: 9734596. DOI: 10.1046/j.1523-1755.1998.00062.x. | ||
| 1997 | Dixon, C.E. : | |
| Juvenile nephropathy in a Dalmatian Veterinary Record 140:184, 1997. Pubmed reference: 9055399. | ||
| Knowles, J. : | ||
| Juvenile nephropathy in a Dalmatian Veterinary Record 140:240, 1997. Pubmed reference: 9076926. | ||
| Lyons, R.D., Hill, J.M., Fleming, L. : | ||
| Juvenile nephropathy in a dalmatian Veterinary Record 140:264, 1997. Pubmed reference: 9080650. | ||
| Roels, S., Schoofs, S., Ducatelle, R. : | ||
| Juvenile nephropathy in a Weimaraner dog Journal of Small Animal Practice 38:115-118, 1997. Pubmed reference: 9097243. | ||
| 1994 | Minkus, G., Breuer, W., Wanke, R., Reusch, C., Leuterer, G., Brem, G., Hermanns, W. : | |
| Familial nephropathy in Bernese Mountain Dogs Veterinary Pathology 31:421-428, 1994. Pubmed reference: 7941230. | ||
| 1990 | Hoppe, A., Swenson, L., Jonsson, L., Hedhammar, A. : | |
| Progressive Nephropathy Due to Renal Dysplasia in Shih-Tzu Dogs in Sweden - A Clinical Pathological and Genetic Study Journal of Small Animal Practice 31:83-91, 1990. | ||
| 1987 | Picut, C.A., Lewis, R.M. : | |
| Comparative pathology of canine hereditary nephropathies: an interpretative review Veterinary Research Communications 11:561-581, 1987. Pubmed reference: 3330354. |
Edit History
- Created by Frank Nicholas on 04 Sep 2010
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 17 May 2013
- Changed by Frank Nicholas on 04 Aug 2020