REPORT FOR SANJI
Canine Traits and Disorders
Report for
Sanji
Basic Details
Breed: Labrador Sex : Age : 2 Years
Parents: Weight: Height:
Known Health Conditions : None
Sample Details
Reference Id: IonCode_0791 Collected: 20/11/2022 Sample Type: Swab
Lab Ref Id: BSCTD22K7 Received: 22/11/2022 Reported: 20/12/2022
Reference Details
Referring Vet: Clinic’s Name:
Clinic Address:
Owner name: Email Address:
Owner Address:
Genomics Test Details
Panel: Thermofisher Canine Genomics Panel - Canine Traits and Disorders, Version 1
Laboratory: GeneTech Technology: NGS
Machine: Ion GeneStudio S5 and Ion Chef LibPrep Solution: Ampliseq based AgriSeq
Panel size: 154 markers 97 SNPs, 6 MNPs, Marker Coverage: 134 Genetic Disorders, 20 Traits
13 Ins, 38 Del
SUMMARY OF RESULTS
DISORDERS IDENTIFIED
Disorders 1 Menkes Disease
CARRIER STATUS IDENTIFIED
Carriers 3 Achromatopsia-2
Cone Rod Dystrophy 3
Osteogenesis Imperfecta SERPINH1 related
TRAITS IDENTIFIED
Traits 4 Coat colour, dominant black
Coat color grizzle, coat color extension
Coat color Agouti
Coat color extension
Name: Sanji Age/Sex:2 Years/Male Sample ID: BSCTD22K7 Report Date: 20/12/2022 Page | 2
Neurological
Menkes Disease
DISEASE CONDITION
Marker AGSCTD030 GeneName ATPase, Cu transporting Gene ATP7A
a-polypeptide
Category Neurological Condition Menkes Disease Inheritance X-linked
recessive
Chr#: CHR X Genotype Reference: C Var Found: T OMIA # 000640
About the Condition
Menkes disease, involving ATP7A, is a neurodegenerative disorder of copper deficiency. It is
characterized by cerebral and cerebellar degeneration, connective tissue abnormalities, coarse
hair and a failure to thrive. Symptoms are directly related to the dysfunction of copper dependent
enzymes and there is a high variation in the severity of symptoms and if left untreated, may result
in severe neurologic defects. The diagnosis is usually confirmed by analysing copper level in the
urine.
Onset and Prognosis
This occurs at an early age and can be lethal if it is not treated. Phenotypic variability is reported.
Dog Breeds
Menkes disease is seen in Labrador Retriever, Doberman Pinscher, American Cocker Spaniel,
Keeshond, Skye Terrier and West Highland White Terrier
Genetics and Inheritance
ATP7A gene is responsible for production of the ATPase enzyme that regulates copper levels in
the body. The missense mutation causes decrease in copper levels and results to Menkes disease.
The condition is inherited in an X-linked recessive pattern and affects only male dogs. Female dogs
are unaffected carriers.
Management
1. Frequent copper analysis followed by early treatment can alleviate the neurological symptoms.
2. Avoid using affected dogs and unaffected carrier females in breeding programs
References
1.Wu, X., den Boer, E.R., Vos-Loohuis, M., Steenbeek, F.G.V., Monroe, G.R., Nijman, I.J.,
Leegwater, P.A.J., Fieten, H.: Investigation of genetic modifiers of copper toxicosis in
Labrador RetrieversLife (Basel) 10:, 2020.
2.Pindar, S., Ramirez, C: Predicting copper toxicosis: relationship between the ATP7A and
ATP7B gene mutations and hepatic copper quantification in dogsHum Genet :, 2019.
3.Fieten, H., Gill, Y., Martin, A.J., Concilli, M., Dirksen, K., van Steenbeek, F.G., Spee, B., van den
Ingh, T.S., Martens, E.C., Festa, P., Chesi, G., van de Sluis, B., Houwen, R.H., Watson, A.L.,
Aulchenko, Y.S., Hodgkinson, V.L., Zhu, S., Petris, M.J., Polishchuk, R.S., Leegwater, P.A.,
Rothuizen, J.: The Menkes and Wilson disease genes counteract in copper toxicosis in
Labrador retrievers: a new canine model for copper-metabolism disordersDis Model Mech
9:25-38, 2016.
Name: Sanji Age/Sex:2 Years/Male Sample ID: BSCTD22K7 Report Date: 20/12/2022 Page | 3
Ophthalmic
Achromatopsia-2
UNAFFECTED CARRIER
Marker AGSCTD079 GeneName Cyclic Nucleotide Gated Channel Gene CNGA3
Alpha 3
Category Ophthalmic Condition Achromatopsia-2 Inheritance Autosomal
Recessive
Chr#: CHR10 Genotype Reference: G VarFound: A OMIA # 001481
Please note that the dog is an unaffected carrier for the condition. Avoiding carrier in breeding
programs is advised.
About the Condition
Achromatopsia, also called as day blindness or color blindness, is characterized by cone
photoreceptor dysfunction of the eye, leading to severely reduced or complete vision loss during
day light hours. Dogs show signs of avoiding bright light or distress in bright light (photophobia),
nystagamus (uncontrolled eye movements) and sometimes total colour-blindness. CNGB3 gene
associated Achromatopsia is a rare genetic condition with complete loss of cone photoreceptor
function while rod photoreceptors remain intact. Cataract development may also occur frequently in
affected dogs. Diagnosis is by ophthalmic evaluation and electroretinography.
Onset and Prognosis
Symptoms appear early between 8-12 weeks of age when owner observes pup’s difficulty in
negotiating obstacles. Initially cones start developing but once non-functional, their inner and outer
segments gradually deteriorate, followed by a slow loss of cones throughout the dog’s lifetime.
Cone function loss is confirmed by electroretinography.
Dog Breeds
CNGA3 gene associated congenital Achromatopsia is reported in GermanShepards and Labrador
Retrievers.
Genetics and Inheritance
Mutation in CNGA3 gene causes dysfunction of retinal phototransduction pathway, leading to
congenital Achromatopsia-2. It is an autosomal recessive disorder, resulting when two copies of
CNGA3 gene carry the mutation, one copy inherited from each parent. Unaffected carrier parents
have 25% risk of having a pup with Achromatopsia-2.
References
1.Tanaka, N., Dutrow, E.V., Miyadera, K., Delemotte, L., MacDermaid, C.M., Reinstein, S.L.,
Crumley, W.R., Dixon, C.J., Casal, M.L., Klein, M.L., Aguirre, G.D., Tanaka, J.C., Guziewicz, K.E.:
Canine CNGA3 Gene Mutations Provide Novel Insights into Human
Achromatopsia-Associated Channelopathies and TreatmentPLoS One 10:e0138943, 2015.
Name: Sanji Age/Sex:2 Years/Male Sample ID: BSCTD22K7 Report Date: 20/12/2022 Page | 4
Opthalmic
Cone Rod Dystrophy 3
UNAFFECTED CARRIER
Marker AGSCTD051 GeneName ADAM Metallopeptidase Domain 9 Gene ADAM9
Category Opthalmic Condition Cone Rod Dystrophy 3 Inheritance Autosomal
Recessive
Chr#: CHR16 Genotype Reference: C VarFound: T OMIA # 1520
Please note that the dog is an unaffected carrier for the condition. Avoiding carrier in breeding
programs is advised.
About the Condition
Code Rod Dystrophy-3, also called progressive retinal atrophy is an inherited genetic disorder
characterized by blindness due to degeneration of photoreceptors, cones and rods. The condition
starts with degeneration of cone first followed by the rods eventually resulting in complete vision
loss. Symptoms of affected dogs include loss of peripheral and general vision, loss of color vision
and photophobia. The disease can be diagnosed by opthalmoscopy and electroretinography.
Onset and Prognosis
The age of onset of the condition can be between 7 months to 1 year beginning with peripheral
vision loss followed by complete vision loss over several years.
Dog Breeds
Code Rod Dystrophy-3 is seen reported in Glen of Imaal Terrier
Genetics and Inheritance
References
1.Goldstein O, Mezey JG, Boyko AR, Gao C, Wang W, Bustamante CD, Anguish LJ, Jordan JA,
Pearce-Kelling SE, Aguirre GD, Acland GM.: An ADAM9 mutation in canine cone-rod
dystrophy 3 establishes homology with human cone-rod dystrophy 9. Mol Vis2010 Aug
11;16:1549-69.
2.Kropatsch, R., Petrasch-Parwez, E., Seelow, D., Schlichting, A., Gerding, WM., Akkad, DA.,
Epplen, JT., Dekomien, G: Generalized progressive retinal atrophy in the Irish Glen of Imaal
Terrier is associated with a deletion in the ADAM9 geneMol Cell Probes 24:357-63, 2010.
Name: Sanji Age/Sex:2 Years/Male Sample ID: BSCTD22K7 Report Date: 20/12/2022 Page | 5
Orthopedic
Osteogenesis Imperfecta SERPINH1
related
UNAFFECTED CARRIER
Marker AGSCTD116 GeneName Serpin peptidase inhibitor, clade H Gene SERPINH1
(heat shock protein 47) member1,
(collagen binding protein1)
Category Orthopedic Condition Osteogenesis Imperfecta SERPINH1 Inheritance Autosomal
related Recessive
Chr#: CHR21 Genotype Reference: A VarFound: G OMIA # 001483
Please note that the dog is an unaffected carrier for the condition. Avoiding carrier in breeding
programs is advised.
About the Condition
Osteogenesis Imperfecta, SERPINH1 related is an inherited skeletal disease characterized by
fragile bones. The condition, which presents from birth is also known as Brittle bone disease and is
caused due to poor collagen formation. The symptoms include spontaneous fracturing of the bones
and teeth, loose joints, difficulty walking, pain, osteopenia, blue eye sclera, stunted growth, weak
tendons and muscle atrophy. In severe extreme cases ribs can fracture leading to difficulty in
breathing. The disease can be diagnosed through X-rays and radiography.
Onset and Prognosis
This disease has an early age of onset and the affected dogs usually do not survive beyond a few
weeks.
Dog Breeds
The condition is reported in Dachshund.
Genetics and Inheritance
The SERPINH1 gene encodes the protein Collagen which is crucial in bone formation. A frame
shift mutation on the gene leads to Osteogenesis Imperfecta by disrupting collagen folding. It is an
autosomal recessive disorder, resulting when two copies of SERPINH1 gene carry the mutation,
one copy inherited from each parent. Unaffected carrier parents have 25% risk of having a pup with
Osteogenesis Imperfecta SERPINH1 related.
References
1.Drogemuller, C., Becker, D., Brunner, A., Haase, B., Kircher, P., Seeliger, F., Fehr, M.,
Baumann, U., Lindblad-Toh, K., Leeb, T.: A missense mutation in the SERPINH1 gene in
Dachshunds with osteogenesis imperfectaPLoS Genet 5:e1000579, 2009.
2.Eckardt, J., Kluth, S., Dierks, C., Philipp, U., Distl, O.: Population screening for the mutation
associated with osteogenesis imperfecta in dachshundsVet Rec 172:364, 2013.
3.Lindert, U., Weis, M.A., Rai, J., Seeliger, F., Hausser, I., Leeb, T., Eyre, D., Rohrbach, M.,
Giunta, C.: Molecular consequences of the SERPINH1/HSP47 mutation in the Dachshund
natural model of osteogenesis imperfectaJ Biol Chem 290:17679-89, 2015.
Name: Sanji Age/Sex:2 Years/Male Sample ID: BSCTD22K7 Report Date: 20/12/2022 Page | 6
Trait
Coat colour, dominant black
TRAIT
Marker AGSCTD044 GeneName Beta-defensin 103 Gene CBD103
Category Trait Condition Coat colour, dominant black Inheritance Autosomal
Dominant
Chr#: CHR16 Genotype Reference: CCC Var Found: -- OMIA # 001416
About the Trait
Coat color black is an inherited trait. The dominant black gene is due to a mutation in a
Beta-defensin gene (CBD103). Coat coloration is controlled by several different genes in dogs. .
The pigment Eumelanin can modify and create other colors such as liver (brown), blue (grey), or
isabella (pale brown). Note that coat color is a complex multigene trait.
Dog Breeds
Coat color black is reported in almost all dog breeds.
Genetics and Inheritance
The gene CBD103 plays a role in pigmentation of cells and a 3 base pair deletion results in black
coat. The trait follows autosomal dominant pattern with only one allele with mutation enough to
express the trait.
References
1.Brancalion, L., Haase, B., Wade, C.M.: Canine coat pigmentation genetics: a reviewAnim
Genet :, 2021.
2.Candille, SI., Kaelin, CB., Cattanach, BM., Yu, B., Thompson, DA., Nix, MA., Kerns, JA.,
Schmutz, SM., Millhauser, GL., Barsh, GS. A {beta}-Defensin Mutation Causes Black Coat Color in
Domestic Dogs. Science 318: 1418-23, 2007. Pubmed reference: 17947548
DOI:10.1126/science1147880
Name: Sanji Age/Sex:2 Years/Male Sample ID: BSCTD22K7 Report Date: 20/12/2022 Page | 7
Trait
Coat color grizzle, coat color extension
TRAIT
Marker AGSCTD014 GeneName Melanocortin 1 receptor (alpha Gene MC1R
melanocyte stimulating hormone
receptor )
Category Trait Condition Coat color grizzle, coat color Inheritance Autosomal
extension
Chr#: CHR 5 Genotype Reference: G Var Found: A OMIA # 001199,
001495
About the Trait
Grizzle is a color pattern that appears as mixed hair on the dog with no discernible pattern. The
color appears blended together, making it look like just one color until you examine it closely.
Grizzle coloring may mix black hair with some tan or brown hairs, or white with black, making it
appear grey. Coat color is a complex multigene trait.
Dog Breeds
The trait is reported in Irish Setter, Labrador Retriever, Australian Cattle Dog, Alaskan Husky,
Siberian Husky and Afghan Hound
Genetics and Inheritance
The gene MC1R gene provides instructions for melanocortin 1 receptor which plays a significant
role in pigmentation of cells. A missense mutation on the gene may result in Grizzle color coat.
References
1.Brancalion, L., Haase, B., Wade, C.M.: Canine coat pigmentation genetics: a reviewAnim
Genet :, 2021.
2.Dürig, N., Letko, A., Lepori, V., Hadji Rasouliha, S., Loechel, R., Kehl, A., Hytönen, M.K., Lohi,
H., Mauri, N., Dietrich, J., Wiedmer, M., Drögemüller, M., Jagannathan, V., Schmutz, S.M., Leeb,
T.: Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white
HuskiesAnim Genet 49:284-290, 2018.
3.Dreger, DL., Schmutz, SM.: A new mutation in MC1R explains a coat color phenotype in 2
"Old" breeds: Saluki and Afghan HoundJ Hered :, 2010.
Name: Sanji Age/Sex:2 Years/Male Sample ID: BSCTD22K7 Report Date: 20/12/2022 Page | 8
Trait
Coat color Agouti
TRAIT
Marker AGSCTD011 GeneName Aspartic Peptidase, reteroviral like 1 Gene ASIP
Category Trait Condition Coat color Agouti Inheritance Autosomal
Chr#: CHR 24 Genotype Reference: Var Found: OMIA # 000201
TCTCA GCTCG
About the Trait
Coat color, Agouti is an inherited fur coloration displaying two or more bands of pigmentation. As a
result the overall appearance of agouti fur is usually gray or dull brown and sometimes dull yellow.
Agouti protein controls the release of melanin pigments (Eumelanin and Phaeomelanin) into the
hair. A multi nucleotide variation leads to presence of display of two or more bands of
pigmentation. Coat color is a complex multigene trait.
Dog Breeds
This trait is reported in German shepherd.
Genetics and Inheritance
The gene ASIP (Aspartic Peptidase, retroviral like 1) codes for Agouti-signaling protein which is
responsible for the distribution of melanin pigment resulting in display of two or more bands of
pigmentation. Inheritance pattern is complex, polygenic and autosomal in nature.
References
1.Dreger, D.L., Schmutz, S.M.: A SINE insertion causes the black-and-tan and saddle tan
phenotypes in domestic dogsJ Hered :S11-8, 2011.
2.Dreger, D.L., Parker, H.G., Ostrander, E.A., Schmutz, S.M.: Identification of a mutation that is
associated with the saddle tan and black-and-tan phenotypes in Basset Hounds and
Pembroke Welsh CorgisJ Hered 104:399-406, 2013.
Name: Sanji Age/Sex:2 Years/Male Sample ID: BSCTD22K7 Report Date: 20/12/2022 Page | 9
Trait
Coat color extension
TRAIT
Marker AGSCTD013 GeneName Melanocortin 1 receptor (alpha Gene MC1R
melanocyte stimulating hormone
receptor )
Category Trait Condition Coat color extension Inheritance Autosomal
Recessive
Chr#: CHR 5 Genotype Reference: C Var Found: T OMIA # 001199
About the Trait
Coat color extension is an inherited trait. The E (extension) locus is governed by the MC1R gene
creates the black facial mask of many dogs as well as yellow or red coats. MC1R activation
prompts the melanocyte to produce eumelanin, whereas MC1R inhibition leads to the production of
pheomelanin. A mutation of the MC1R gene can cause a dog’s cells to only produce phaeomelanin
in place of eumelanin. Mutations in MC1R have been associated with white coloring or partial red
coat in several species. Coat color is a complex multigene trait.
Dog Breeds
The trait is reported in Irish Setter, Labrador Retriever, Australian Cattle Dog, Alaskan Husky and
Siberian Husky
Genetics and Inheritance
The gene MC1R gene provides instructions for making a protein called the melanocortin 1
receptor. A non sense mutation inhibits protein Melanocortin making the coat color white or dull.
Inheritance is not clear with both Autosomal dominant and recessive patterns reported.
References
1.Dürig, N., Letko, A., Lepori, V., Hadji Rasouliha, S., Loechel, R., Kehl, A., Hytönen, M.K., Lohi,
H., Mauri, N., Dietrich, J., Wiedmer, M., Drögemüller, M., Jagannathan, V., Schmutz, S.M., Leeb,
T.: Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white
HuskiesAnim Genet 49:284-290, 2018.
2.Nowacka-Woszuk, J., Salamon, S., Gorna, A., Switonski, M.: Missense polymorphisms in the
MC1R gene of the dog, red fox, arctic fox and Chinese raccoon dogJ Anim Breed Genet
130:136-41, 2013.
Name: Sanji Age/Sex:2 Years/Male Sample ID: BSCTD22K7 Report Date: 20/12/2022 Page | 10
