Late in 2006 a new DNA test
for FN was
developed by Dr. Lee's and his team at the A & M University in
America, became available to locate the gene mutation for this
disease. This is a major breakthrough for the health of the
Cocker Spaniel.
Dr. Lees has stressed that " with WISE use of the test, using
carriers on clears is OK " (quote). He emphasised how the
test will enable us to rid our lines of the possibility of
producing affected animals in just one generation, and how it is
important not to lose quality within the gene pool whilst
eradicating the disease. As in any hereditary disease, an animal
who is a carrier is physically normal, and will not be at risk of
producing the condition in the future if breeding is controlled
(by only mating to a clear animal). Use of the test gives us the
opportunity to prevent the death of dogs from FN.
FN is inherited as a recessive
trait. This means a disease gene must be inherited from each
parent in order to cause disease in an offspring. A carrier has one disease gene and
one normal gene, and is termed “heterozygous” for the disease. A
normal dog has no disease gene and is termed “homozygous normal” –
both copies of the gene are the same. And a dog with two disease
genes is termed “homozygous affected” – both copies of the gene
are abnormal.
Although FN is inherited, it can
be avoided in future generations by testing dogs before breeding.
Identification of dogs that do not carry disease genes is the key. These
"clear" dogs can be bred to any mate. With a "clear " x
"clear" mating all the offspring will be "Homozygous Normal", with
a "carrier" x " "clear" mating, 50% of the offspring will be
"carriers" and 50% "clear". Any puppies from this
combination will need to be tested prior to breeding to ascertain
their status and a safe mating planned.
For more information about FN,
please click here!

The OptiGen/Antagene FN test is a
DNA-based test that accurately diagnoses a fatal kidney disease that
occurs in cocker spaniels. The test also detects CARRIERS of this
disease and clears dogs that are genetically NORMAL.
Familial Nephropathy (FN) has been referred to in several ways:
kidney failure, fatal renal disease, juvenile nephropathy, renal
cortical hypoplasia, hereditary nephritis (HN), Autosomal Hereditary
Recessive Nephropathy (AHRN) in canines and Alport's Syndrome in
humans.
FN is inherited in an autosomal recessive pattern in the cocker
spaniel. This
means the gene mutation responsible for FN is located on an autosome
(that is, a chromosome that is not a sex chromosome) and FN disease
results when the gene mutation is passed to the offspring by both
the mother and the father.
FN disease is a juvenile-onset fatal kidney (renal) failure
recognized in cocker spaniels worldwide for more than 50 years. The renal
disease caused by FN invariably is progressive and ultimately fatal;
however, the rate of disease progression observed in affected dogs
is more rapid in some individuals than in others.
Dogs with FN typically develop chronic renal failure
between 6 months and 2 years of age, with eventual and sometimes
rapid destruction of both kidneys. The early clinical signs are the
same as those associated with chronic renal failure due to any other
cause. These include excessive water consumption, excessive urine
volume, reduced growth rate or weight loss, poor quality hair coat,
reduced appetite, and vomiting. Persistent high levels of protein in
the urine of a young cocker spaniel most often proves to be due to FN.
Early in the
disease course, a diagnosis can be difficult.
Definitive clinical diagnosis can require
examination of kidney tissue after death. The FN
genetic test solves this problem immediately since
presence of the FN gene mutation is accomplished by
testing a DNA sample. This result gives the owner
immediate diagnostic information and aides in making
decisions for the affected dog and for breeding
strategies.
Two companies are licensed to perform the DNA FN
test,
OptiGen in the US and
Antagene in Europe. Only dogs previously
tested by OptiGen for prcd-PRA may use the OptiGen
FN test, all other dogs resident in the UK may only
use the Antagene FN test.
Because the OptiGen/Antagene FN test is a mutation-based gene
test, it accurately and specifically identifies
normal dogs, carriers (heterozygous dogs) and affected's.
To date,
no Powerscourt dog has
sired FN or any bitch produced puppies affected with FN.
The careful examination of pedigrees, with safe mating's planned
has helped us ensure our dogs/puppies are free of FN, however this
has always been a "by the grace of God" system and we are now
delighted that a DNA test is available.
Our dogs were the first UK resident dogs to be tested by
OptiGen for FN and in
early January
2007 we were delighted to receive "Normal" FN test results for
all our previously tested prcd-PRA OptiGen tested dogs!

|
Possible results
using the FN test |
|
Genotype |
Risk Group |
Significance For Breeding |
Risk of FN
Disease |
|
N=
Homozygous Normal |
Normal/Clear |
Can be bred to
any dog. Will never produce affected pups. |
Will never
develop FN |
|
C = Heterozygous |
Carrier |
Should be bred
only to
Clear to remove risk of producing
affecteds |
Will never
develop FN |
|
A =
Homozygous Mutant |
Affected |
Shouldn't be
bred from due to the strain on the kidney's during pregnancy.
Also unlikely to still be alive at an appropriate age for
reproduction. |
Will
develop FN/has FN |
|
Expected results for
breeding strategies using the FN test |
Parent 1
Status |
Parent 2 Status |
|
Clear |
Carrier |
Affected |
|
N =
Normal/Clear |
All = Clear |
1/2 = Clear
1/2 = Carrier |
All = Carrier |
|
C=
Carrier |
1/2 = Clear
1/2 = Carrier |
1/4 = Clear
1/2 = Carrier
1/4 = Affected |
1/2 = Carrier
1/2 = Affected |
|
A =
Affected |
All = Carrier |
1/2 = Carrier
1/2 = Affected |
All = Affected |

OptiGen began testing in January 2007 &
Antagene began testing in February 2007.
In early January 2007 we were delighted to
receive "Normal" test results for our previously OptiGen tested dogs, from
these results we were also able to determine which of our dogs are
genetically "Normal" for FN, the results are shown below:
Only dogs forming part of our
current breeding programme are listed here, for all results please see the
individual dogs own pages.
|
Name: |
Details: |
Result: |
|
Powerscourt Enchantress - Buttons |
Genotype Normal via parentage |
Homozygous Normal |
|
Powerscourt Higher Echelon - Toby |
OptiGen Test - 22/01/07 |
Homozygous Normal |
|
Powerscourt Paint Splash - Tiggy |
OptiGen Test - 18/01/07 |
Homozygous Normal |
|
Powerscourt Perdita - Purdie |
OptiGen Test - 18/01/07 |
Homozygous Normal |
|
Powerscourt Perfect Gift - Maddie |
OptiGen Test - 18/01/07 |
Homozygous Normal |
|
Powerscourt Perfect Love - Minty |
Genotype Normal via parentage |
Homozygous Normal |
|
Powerscourt Perfect Magic - Dudley |
Genotype Normal via parentage |
Homozygous Normal |
|
Powerscourt Pingu - Stan |
Genotype Normal via parentage |
Homozygous Normal |
|
Powerscourt Pippi's Gift - Katie |
OptiGen Test - 18/01/07 |
Homozygous Normal |
|
Powerscourt Power Of Love JW - Lottie |
OptiGen Test - 18/01/07 |
Homozygous Normal |
|
Powerscourt Precious Gift - Kea |
Genotype Normal via parentage |
Homozygous Normal |
|
Powerscourt Precious Simba - Megan |
Genotype Normal via parentage |
Homozygous Normal |
|
Powerscourt Prelude - Henry |
Antagene Test - 21/05/07 |
Homozygous Normal |
|
Powerscourt Pure Love - Willow |
Antagene Test - 21/05/07 |
Homozygous Normal |
|
Powerscourt Pure Silk - Sophie |
Genotype Normal via parentage |
Homozygous Normal |
|
Powerscourt Spice Of Life - Rosie |
OptiGen Test - 18/01/07 |
Homozygous Normal |
|
Riondel Venture to Powerscourt - Archie |
OptiGen Test - 15/01/07 |
Homozygous Normal |
|
Spendles Spinnet of Powerscourt - Tilly |
OptiGen Test - 18/01/07 |
Homozygous Normal |
|
Wakehurst Playboy - Fudge |
Antagene Test - 21/05/07 |
Homozygous Normal |
For a list of results for
all dogs (all Cocker Spaniels, not just Powerscourt cockers)
tested please click
here! Please note, the results currently listed for our dogs
are only the results of dogs still connected to our breeding
programme and have been submitted voluntarily). From the
1st July the Kennel Club will automatically update the list with
test results.
The information contained on this page is
copyright to Powerscourt Cocker Spaniels. It must not be
reproduced in any shape or form.
|