English Springer Spaniel UK Breed Health Survey 2013
Why we need your help with a Breed Health Survey
English Springer Spaniels are not known to suffer from widespread health problems and are generally long-lived, providing they are kept fit, well exercised, and are fed a healthy, balanced diet. There is a serious lack of meaningful data and this survey therefore aims to give us a better picture of the health and temperament across the Breed in the UK. For the very first time, it will also help us put any problems in context by asking owners to submit reports on their healthy dogs as well as those with diagnosed health conditions.
What you should know about the Survey
It is simple to complete and should only take a few minutes for each dog.
You can submit a survey report if you live in the UK and own an English Springer Spaniel, whether it is Kennel Club registered or not.
We are asking for information about the health and behaviour of the English Springer Spaniels you currently own, including your healthy dogs.
We are also asking about the age and cause of death of any English Springer Spaniel you have owned, that has died during the past five years (since January 2008).
We are asking you to include your own name and the name of your English Springer Spaniel, but all information will be treated in the strictest confidence and no names of owners, or dogs' details will ever be published. The raw data, with dogs' and owners' names, will only be seen by the English Springer Spaniel UK Breed Clubs Joint Health Co-ordinators.
By completing the survey, you give your consent for the data to be published anonymously, or used in research, for the benefit of breed health improvement.
Surveys can be completed PREFERABLY ONLINE at www.englishspringerhealth.org.uk and submitted at any time during the three month period from 1st May to 31st July 2013. You can also download the Survey Form from the above website for posting or emailing to us, or you can request a Survey Form by telephoning 020 8427 3396 or emailing us at email@example.com.
March 2013 -
Health Co-ordinators Statement re Aguirre Study on Cord 1 PRA (March 2013) - Health News page
STATEMENT RE WITHDRAWAL OF CORD1 PRA DNA TEST BY LABOKLIN LABORATORY
In August 2012, the Laboklin Laboratory announced that it would no longer be offering the Cord1 PRA DNA test, other than for research purposes. Its decision was based on a study of early onset PRA in Cord1 genetically Affected Dachshunds, which was carried out by researchers at the University of Pennsylvania and published in July 2012. Immediately following the Laboklin announcement, the ESS Health Co-ordinators contacted the Animal Health Trust for clarification of the findings of this study and whether there were any implications which might alter the advice that should be offered to ESS breeders and owners.
Dr. Cathryn Mellersh of The Animal Health Trust and Dr. David Sargan of Cambridge University issued a statement in August 2012, which can be read in full here. The situation can be summarised as follows:
• The research study only investigated early onset PRA in Dachshunds, so strictly speaking the conclusions related only to Dachshunds, although it could be assumed that a similar situation applies in ESSs. (The major stumbling block with research specifically using ESSs is the serious lack of suitable samples.)
• The study adds nothing to what has been known since 2009, which is that there is almost certainly a second (as yet unidentified), modifying gene mutation that needs to be present for the development of early onset PRA in Cord1 genetically Affected dogs. Without this second mutation, Cord1 PRA is more likely to be late onset.
• Although some dogs without the second modifying gene may never clinically develop Cord1 PRA during their lifetimes, some of them will. AHT research using ERG (electroretinography) testing showed that Cord1 genetically Affected dogs that were thought to be clinically normal, do indeed have reduced retinal function which can't be detected when using the standard clinical eye test.
• In Dachshunds, although the second mutation hasn't yet been precisely identified, they do know in which region of the genome it lies, and we await news of any further developments on that front.
The clear advice from the AHT was that the Cord1 DNA test for ESSs remains valid and valuable, and that Affected and Carrier dogs should only be mated to Clear dogs. A decision was made not to issue a statement to ESS owners last August, as the advice on using the ESS Cord1 PRA DNA test has not changed. However, as this issue has recently been highlighted on various ESS internet discussion forums, it is hoped this statement will help clarify the situation for everyone.
The Cord1 PRA DNA test is available from the Animal Health Trust and remains an ESS requirement under the KC Assured Breeder Scheme.
Louise Scott & Lesley Bloomfield
UK English Springer Spaniel Clubs Joint Health Co-ordinators
1st March 2013
Statement from The Animal Health Trust/Cambridge University
Re University of Pennsylvania Research Paper on
Early Onset Cord1 PRA (Published July 2012)
A paper has recently been published by a team of researchers, led by Prof Gus Aguirre, at the School of Veterinary Medicine, University of Pennsylvania entitled EXCLUSION OF RPGRIP1 INS44 FROM PRIMARY CAUSAL ASSOCIATION WITH EARLY ONSET CONE-ROD DYSTROPHY IN DOGS. The term RPGRIP1 INS44 refers to the mutation in the gene called RPGRIP1 that was identified in 2006, by researchers from the Animal Health Trust (AHT), in a colony of miniature longhaired dachshunds (MLHDs) with early-onset cone-rod dystrophy (also known as cord1). Mutations in the RPGRIP1 gene are known to cause inherited retinal degeneration in other species, including humans and mice.
Since the initial publication in 2006 Cathryn Mellersh's team at the AHT, in collaboration with David Sargan and Keiko Miyadera from Cambridge University, has become increasingly aware of phenotypic variation and genotype-phenotype discordance between some dogs that are homozygous (i.e. carry two copies) for the RPGRIP1 INS44 mutation (referred to as ins/ins dogs in this document) and it is now very well recognised that not all ins/ins dogs develop early-onset retinal degeneration. Data supporting this observation have been published formally in three separate, peer-reviewed publications [1-3] and shared informally with the Dachshund community on many occasions.
Two of the publications [1, 2] include the observation that ins/ins dogs usually have absent or reduced cone photoreceptors function, even if their retinas don't appear grossly abnormal. The third publication  describes very strong evidence for a second region of the genome that acts as a modifier, determining the age at which dogs develop cone-rod dystrophy and it now seems clear that dogs require two copies of both mutations to develop early-onset retinal degeneration. We now know that all the dogs in the AHT colony were homozygous for the modifying mutation, meaning our original findings point unequivocally to a mutation in the RPGRIP1 region that is involved with the development of cone-rod dysplasia and although we now know a second mutation is also involved the existence of a mutation in the RPGRIP1 region is beyond doubt. (Note: the precise mutation in the second region has yet to be formally identified but dogs carrying two copies can be identified by virtue of the fact they carry two identical stretches of DNA in this region. Work is on-going to identify the second mutation).
The recent paper from the Aguirre lab makes many of the same observations that have already been made, regarding genotype-phenotype discordance and abnormal cone function in ins/ins dogs, and these data, although consistent with previous published reports, are not novel findings. The Aguirre lab, like us, find that in young dogs (ERG tested at up to 1.8 years old) only a proportion of animals show loss of retinal function, and like us, they show this as loss of function of the cone cells. Some additional, new, observations have been made, however, including some aspects of abnormal retinal histopathology in ins/ins dogs which are consistent with the fact that the retinas of ins/ins dogs are abnormal. The Aguirre lab has not tested the functional effect of the mutation in older MLHD (above 5 years), where we have found slower degenerative effects even in those animals not affected by the mutation at a young age.
The Aguirre lab has undertaken some simple experiments to investigate whether the RPGRIP1 protein is made normally in ins/ins dogs. These experiments have revealed abnormalities in the RPGRIP1 RNA consistent with loss of the 5' end of the protein but have not revealed loss of normal amounts of the remainder of the protein, leading the researchers to conclude that it is not the RPGRIP1 INS44 mutation that is responsible for the abnormalities observed, but more likely a different mutation located nearby. Our own results also suggest that at least part of the normal protein is likely to be produced. But in our opinion, the experiments to investigate the function of the partial RPGRIP1 protein are not exhaustive, and do not prove unequivocally that the RPGRIP1 protein is normal in ins/ins dogs. In addition, despite a thorough investigation of the RPGRIP1 gene, the Aguirre team have not been able to identify an alternative mutation that explains the observed abnormalities any better than the RPGRIP1 INS44.
We agree with many of the conclusions made by the Aguirre lab, but not all. We agree that the RPGRIP INS44 mutation is not solely responsible for early-onset cone-rod dystrophy in MLHDs and indeed we have already published that an additional mutation acts to modify the age of onset of retinal degeneration in MLHDs. We do not agree, however, that sufficient evidence has been presented to conclude that the RPGRIP1 INS44 mutation is not involved with cone-rod dystrophy in this breed and we note that the Aguirre paper does not investigate the effects of the mutation on later onset PRA in the dachshund, showing only that a proportion of dachshunds genotyped as ins/ins did not develop an early onset functional disease. We note that in this investigation the majority of ins/ins animals did show retinal and ERG abnormalities whilst the controls did not. Until more conclusive evidence of non-involvement of RPGRIP1 INS44 in cone-rod dystrophy is presented we will continue to recommend that Dachshund breeders avoid breeding dogs that are homozygous for this mutation.
Data presented in the recent paper from the Aguirre lab are consistent with many previously published observations from other research teams and the following points summarise our current understanding of cone-rod dysplasia in miniature longhaired dachshunds;
• Dogs that are homozygous for the RPGRIP1 mutation (ins/ins) will not necessarily develop retinal degeneration (RD) at an early age, although some will.
• Ins/ins dogs usually have abnormal or absent cone photoreceptor function although the degree of loss depends on age of testing and is later in some dogs than others. They may also have abnormal retinal histopathology.
• There is an additional mutation, in a second gene, that influences the age of onset of retinal degeneration and homozygosity at both the RPGRIP1 locus and the newly mapped second region is necessary for a dog to develop early-onset RD.
• The involvement of the RPGRIP1 locus is definitive, based on the perfect association with cord1 in the AHT research colony, although we now know an additional mutation is involved, in a second region of the genome, that determines the age of onset of RD.
1. Miyadera, K., et al., Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation. Mol Vis, 2009. 15: p. 2287-305.
2. Busse, C., et al., Ophthalmic and cone derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds homozygous for a RPGRIP1 mutation. Veterinary Ophthalmology, 2011. 14(3): p. 146-52.
3. Miyadera, K., et al., Genome-wide association study in RPGRIP1 (-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration. Mamm Genome, 2011. 23(1-2): p. 212-23.
Cathryn Mellersh, Animal Health Trust
David Sargan, University of Cambridge
Full details on Chronic Hepatitis and the Research Project can be found in the health section of this website or by contacting the Health Co-ordinators**.
BVA/KC HEALTH TESTING
A reminder that, with effect from 1st January 2010, any dog being tested under the official BVA/KC Health Schemes (i.e. Eye Scheme, Hip Scheme, Elbow Scheme) must be permanently identified by either microchip or tattoo. This means that from this date, permanent identification and registration documents will BOTH be required for Health Scheme certification.
**ESS Breed Clubs Health Co-ordinators:
Lesley Bloomfield (Tel: 01923 823579) Email
Louise Scott (Tel: 020 8427 3396) Email
EYE TESTING CLINICS
Updates to follow...
BREED HEALTH TESTING SEMINAR
The German Shorthaired Pointer Club &
The German Shorthaired Pointer Association
To be held at
My Pet Stop, Top Cliffe Close, Capital Park, Tingley, Wakefield. WF3 1BU
21st February 2010
10am - 4pm
Guest Speaker Dr Jeff Sampson
Specialists: Eye Testing Professor Peter Bedford
Heart Testing Sue Roberts
To reserve your place contact
Eileen Winser, Pointers, Wistow, Huntingdon,Cambs. PE28 2QH
Tel 01487 822366
FIELD SPANIEL SOCIETY HEALTH COMMITTEE
Health Testing Day
(Open to All Breeds)
Sponsoring the AHT DNA Archive
Great Alne & Kinwarton Memorial Hall, Alcester, Warks
7th February 2010
9 am - 5 pm
Specialists Eye Testing Heidi Featherstone
Heart Testing Mr David Fisher
DNA Profiling FSS Health Committee Staff
DNA Archive FSS Health Committee Staff
Semen Testing & Collection Angelika Von Heimendahl
Microchipping Debs Channon
(Any profit from Microchipping is to be split between breed rescue and health)
From January 1st 2010 CHS certificates will only be issued if your dog has been permanently identified (microchip or tattoo).
Contact Shula M Shipton (FSS Health Officer)
121 Malvern Street, Stapenhill, Burton-on-Trent Staffs. DE15 9DZ
Phone 01283 530408