OMIA 001112-9615 : Nephritis, X-linked in Canis lupus familiaris |
Pathology: Collagen type IV is an important contributor to basement membrane structural integrity. Affected males have approximately 10% of normal levels of the alpha 5 chain of collagen type IV, as well as decreased levels of the alpha 3 and alpha 4 chains (Thorner et al., 1996). Multilaminar splitting of glomerular basement membranes is found by electron microscopy. Areas of focal segmental glomerulosclerosis are found by light microscopy (Baumal et al., 1991). Control: Males with signs of renal disease should be tested for the causative mutation. As it is an X-linked trait, the dam of affected males is an obligate carrier. Male siblings of affected dogs should be free of the mutation, but female siblings should be tested. Breeding of affected or carrier dogs is not recommended. Genetic testing: There are tests available to detect the known causative mutations. Breeds: Navasota (mixed breed), Samoyed. Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
COL4A5 | collagen, type IV, alpha 5 | Canis lupus familiaris | X | NC_051843.1 (83631540..83897969) | COL4A5 | 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.
Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Navasota (mixed breed) | Nephritis, X-linked | COL4A5 | deletion, small (<=20) | a 10 base pair deletion in exon 9 of COL4A5 | 2008 | 18931484 | ||||||||
Samoyed | Nephritis, X-linked | COL4A5 | nonsense (stop-gain) | CanFam3.1 | X | g.82196868G>T | c.3079G>T | p.G1027* | 1994 | 8171024 | 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.
2016 | Clark, S.D., Nabity, M.B., Cianciolo, R.E., Dufek, B., Cosgrove, D. : | |
X-Linked Alport Dogs Demonstrate Mesangial Filopodial Invasion of the Capillary Tuft as an Early Event in Glomerular Damage. PLoS One 11:e0168343, 2016. Pubmed reference: 27959966. DOI: 10.1371/journal.pone.0168343. | ||
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. | ||
2008 | Bell, R.J., Lees, G.E., Murphy, K.E. : | |
X chromosome inactivation patterns in normal and X-linked hereditary nephropathy carrier dogs. Cytogenet Genome Res 122:37-40, 2008. Pubmed reference: 18931484. DOI: 10.1159/000151314. | ||
2005 | Rao, VH., Lees, GE., Kashtan, CE., Delimont, DC., Singh, R., Meehan, DT., Bhattacharya, G., Berridge, BR., Cosgrove, D. : | |
Dysregulation of renal MMP-3 and MMP-7 in canine X-linked Alport syndrome. Pediatr Nephrol 20:732-9, 2005. Pubmed reference: 15782307. DOI: 10.1007/s00467-004-1805-5. | ||
Zheng, K., Perry, J., Harvey, SJ., Sado, Y., Ninomiya, Y., Jefferson, B., Jacobs, R., Hudson, BG., Thorner, PS. : | ||
Regulation of collagen type IV genes is organ-specific: evidence from a canine model of Alport syndrome. Kidney Int 68:2121-30, 2005. Pubmed reference: 16221211. DOI: 10.1111/j.1523-1755.2005.00668.x. | ||
2003 | Chen, D., Jefferson, B., Harvey, S.J., Zheng, K., Gartley, C.J., Jacobs, R.M., Thorner, P.S. : | |
Cyclosporine a slows the progressive renal disease of alport syndrome (X-linked hereditary nephritis): results from a canine model Journal of the American Society of Nephrology 14:690-8, 2003. Pubmed reference: 12595505. | ||
Cox, ML., Lees, GE., Kashtan, CE., Murphy, KE. : | ||
Genetic cause of X-linked Alport syndrome in a family of domestic dogs. Mamm Genome 14:396-403, 2003. Pubmed reference: 12879362. DOI: 10.1007/s00335-002-2253-9. | ||
Harvey, S.J., Zheng, K., Jefferson, B., Moak, P., Sado, Y., Naito, I., Ninomiya, Y., Jacobs, R., Thorner, P.S. : | ||
Transfer of the alpha 5(IV) collagen chain gene to smooth muscle restores in vivo expression of the alpha 6(IV) collagen chain in a canine model of Alport syndrome American Journal of Pathology 162:873-85, 2003. Pubmed reference: 12598321. | ||
2001 | Harvey, S.J., Mount, R., Sado, Y., Naito, I., Ninomiya, Y., Harrison, R., Jefferson, B., Jacobs, R., Thorner, P.S. : | |
The inner ear of dogs with X-linked nephritis provides clues to the pathogenesis of hearing loss in X-linked Alport syndrome American Journal of Pathology 159:1097-1104, 2001. Pubmed reference: 11549602. DOI: 10.1016/S0002-9440(10)61785-3. | ||
1999 | Lees, G.E., Helman, R.G., Kashtan, C.E., Michael, A.F., Homco, L.D., Millichamp, N.J., Camacho, Z.T., Templeton, J.W., Ninomiya, Y., Sado, Y., Naito, I., Kim, Y. : | |
New form of X-linked dominant hereditary nephritis in dogs American Journal of Veterinary Research 60:373-383, 1999. Pubmed reference: 10188823. | ||
1997 | Grodecki, K.M., Gains, M.J., Baumal, R., Osmond, D.H., Cotter, B., Valli, V.E.O., Jacobs, R.M. : | |
Treatment of X-linked hereditary nephritis in Samoyed dogs with angiotensin converting enzyme (ACE) inhibitor Journal of Comparative Pathology 117:209-225, 1997. Pubmed reference: 9447482. | ||
Lees, G.E., Wilson, P.D., Helman, R.G., Homco, L.D., Frey, M.S. : | ||
Glomerular ultrastructural findings similar to hereditary nephritis in 4 English Cocker Spaniels Journal of Veterinary Internal Medicine 11:80-85, 1997. Pubmed reference: 9127294. | ||
1996 | Thorner, P.S., Zheng, K.Q., Kalluri, R., Jacobs, R., Hudson, B.G. : | |
Coordinate gene expression of the alpha-3, alpha-4, and alpha-5 chains of collagen type iv - evidence from a canine model of x-linked nephritis with a COL4A5 gene mutation Journal of Biological Chemistry 271:13821-13828, 1996. Pubmed reference: 8662866. | ||
1994 | Zheng, K.Q., Thorner, P.S., Marrano, P., Baumal, R., Mcinnes, R.R. : | |
Canine X Chromosome-Linked Hereditary Nephritis - A Genetic Model for Human X-Linked Hereditary Nephritis Resulting from a Single Base Mutation in the Gene Encoding the alpha 5 Chain of Collagen Type IV Proceedings of the National Academy of Sciences of the United States of America 91:3989-3993, 1994. Pubmed reference: 8171024. | ||
1992 | Thorner, P.S., Baumal, R., Valli, V.E.O., Mahuran, D., Marrano, P.M., Jacobs, R. : | |
Production of Anti-NC1 Antibody by Affected Male Dogs with X- Linked Hereditary Nephritis - A Probe for Assessing the NC1 Domain of Collagen Type-IV in Dogs and Humans with Hereditary Nephritis Virchows Archiv A - Pathological Anatomy and Histopathology 421:467-475, 1992. | ||
1991 | Baumal, R., Thorner, P., Valli, V.E.O., Mcinnes, R., Marrano, P., Jacobs, R., Binnington, A., Bloedow, A.G. : | |
Renal Disease in Carrier Female Dogs with X-Linked Hereditary Nephritis - Implications for Female Patients with This Disease American Journal of Pathology 139:751-764, 1991. Pubmed reference: 1928300. | ||
Valli, V.E.O., Baumal, R., Thorner, P., Jacobs, R., Marrano, P., Davies, C., Qizilbash, B., Clarke, H. : | ||
Dietary Modification Reduces Splitting of Glomerular Basement Membranes and Delays Death Due to Renal Failure in Canine X- Linked Hereditary Nephritis Laboratory Investigation 65:67-73, 1991. Pubmed reference: 2072666. | ||
1988 | Thorner, P.S., Jansen, B., Baumal, R., Harrison, R.V., Mount, R.J., Valli, V.E., Spicer, P.M., Marrano, P.M. : | |
An immunohistochemical and electron microscopic study of extra-renal basement membranes in dogs with Samoyed hereditary glomerulopathy. Virchows Arch A Pathol Anat Histopathol 412:281-90, 1988. Pubmed reference: 3124348. | ||
1987 | Jansen, B.S., Valli, V.E., Thorner, P.S., Baumal, R. : | |
Scanning electron microscopy of cellular and acellular glomeruli of male dogs affected with Samoyed hereditary glomerulopathy and a carrier female. Can J Vet Res 51:475-80, 1987. Pubmed reference: 3453267. | ||
Jansen, B., Valli, V.E., Thorner, P., Baumal, R., Lumsden, J.H. : | ||
Samoyed hereditary glomerulopathy: serial, clinical and laboratory (urine, serum biochemistry and hematology) studies. Can J Vet Res 51:387-93, 1987. Pubmed reference: 3651895. | ||
Thorner, P.S., Jansen, B., Liang, J., Baumal, R., Valli, V. : | ||
Quantitation of anionic sites in glomerular capillary basement membranes of Samoyed dogs with hereditary glomerulopathy. Virchows Arch A Pathol Anat Histopathol 411:79-85, 1987. Pubmed reference: 2437692. | ||
Thorner, P., Jansen, B., Baumal, R., Valli, V.E., Goldberger, A. : | ||
Samoyed hereditary glomerulopathy. Immunohistochemical staining of basement membranes of kidney for laminin, collagen type IV, fibronectin, and Goodpasture antigen, and correlation with electron microscopy of glomerular capillary basement membranes. Lab Invest 56:435-43, 1987. Pubmed reference: 3550289. | ||
1986 | Jansen, B., Thorner, P., Baumal, R., Valli, V., Maxie, MG., Singh, A. : | |
Samoyed hereditary glomerulopathy (SHG). Evolution of splitting of glomerular capillary basement membranes. Am J Pathol 125:536-45, 1986. Pubmed reference: 4028523. | ||
Jansen, B., Tryphonas, L., Wong, J., Thorner, P., Maxie, MG., Valli, VE., Baumal, R., Basrur, PK. : | ||
Mode of inheritance of Samoyed hereditary glomerulopathy: an animal model for hereditary nephritis in humans. J Lab Clin Med 107:551-5, 1986. Pubmed reference: 3711721. | ||
1984 | Jansen, B., Thorner, P.S., Singh, A., Patterson, J.M., Lumsden, J.H., Valli, V.E., Baumal, R., Basrur, R.K. : | |
Animal model of human disease: hereditary nephritis in Samoyed dogs. Am J Pathol 116:175-8, 1984. Pubmed reference: 6742105. | ||
1981 | Bloedow, A.G. : | |
Familial renal disease in Samoyed dogs Veterinary Record 108:167-168, 1981. Pubmed reference: 7210449. | ||
1977 | Bernard, M.A., Valli, V.E. : | |
Familial renal disease in Samoyed dogs. Can Vet J 18:181-9, 1977. Pubmed reference: 884645. |
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