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POMERANIAN GENETICS, American English nomenclature.
Version 2.2, 11th May 2002
COPYRIGHT TENSET TECHNOLOGIES LTD 2002
NO PART OF THIS GENETIC CONFIGURATION, INCLUDING THESE NOTES, MAY BE REPRODUCED OR DISTRIBUTED TO 3RD PARTIES IN ANY FORM UNLESS YOU HAVE OBTAINED EXPLICIT WRITTEN PERMISSION IN ADVANCE FROM TENSET TECHNOLOGIES LTD.

This configuration provides genetic rules for the following genes:
- Agouti Coloration
- Albino
- Super Extension
- Extension
- Dominant Black/Brindle
- Chocolate
- Blue Dilution
- Graying
- Merle
- White Spotting
- Ticked
- Color Intensity
- Hip Dysplasia
- Tetralogy of Fallot - TF
- Ventricular Septal Defect - VSD
- Pituitary Dwarfism - PD
- Sebaceous Adenitis - SA
- Globoid Cell Leukodystrophy - GCL
- Sphingomyelinosis - SPI
- Neuroaxonal Dystrophy - NO
- Narrow Angle Glaucoma - NAG
- Myelodysplasia - MDP
- Elbow Dysplasia
- Patella Luxation

 

HOW TO ENTER GENOTYPES
1. A genotype is entered as a series of alleles. In many cases, you can enter a genotype in much the same way as you might write it, except that you must put spaces between the alleles of different genes. E.g. you might enter the genotype BbDD as:
BB Dd

2. You can enter sex-linked genes in the normal way, giving only a single allele for the male, e.g.:
Bb DD O


 SAMPLE GENOTYPES
Here we list some sample genotypes and the corresponding phenotypes and/or carried traits they give rise to.
You should note that most genes will assume a default if you don't explicitly give them, so you only have to specify those that differ from the 'norm'. E.g. with most breeds BB is assumed for the B gene so you would only have to explicitly give alleles for the B if the dog is bb (liver/chocolate) or Bb (carries liver/chocolate). Details of the assumed genotypes are given in the gene notes that follow.

BB: Black
Bb: Black carrying chocolate
BB: Black
BB Ayat: Black carrying tan point
BB atat: Black carrying tan point


 GENE NOTES
Listed below are the genes and alleles that are modelled by this genetic configuration. For each gene we also list the genotype that will be assumed, if it is not explicitly given, when carrying out a mating prediction or phenotype deduction.

It is worth mentioning at this point that there are areas of doubt about the exact genes/alleles that affect certain aspects of coat color in dogs. The main ones surround the proposed 'dominant black' (As) at the top of the Agouti series, and in the E series there are questionmarks over Em (black mask) and Ebr (brindle).

In the past it was thought that with the A and E series, you had:
Agouti Series (A): As, ay, aw, as, at, a
Extension Series (E): Em, E, Ebr, e

But newer reseach indicates that 'dominant black' As does not belong in the Agouti series at all - and this is consistent with other mammals which also share the Agouti series, none of which has a dominant phaeomelanin suppressor like As at the top of the series. This research also indicates that brindle (Ebr in the old system) and 'dominant black' form a separate series of at least 3 alleles, which we will call K (for blacK): K=dominant black, kbr=brindle, k='normal'. Finally, we have removed Em ('black mask') and placed it in its own separate series which we call 'Super Extension' (Se); again this agrees with current research.

So in this genetic configuration, we have used:
Agouti Series (A): Ay, aw, as, at, a
Extension Series (E): E, e
SuperExtension Series (Se): Se, se
BlacK Series (K): K, kbr, k

NOTE: In some breeds certain of the alleles are not known to occur.

A gene (Agouti Coloration):
Controls the changes between eumelanin(black) and phaeomelanin(red) pigment within individual hairs and can also control pigment distribution changes between the back and belly.
- Ay: Sable - Predominantly phaeomelanin based coat, sometimes with interspersed or black tipped hairs; often known as Sable. Generally it is not completely dominant over at, with an ay,ay dog being slightly lighter than ay,at.
- aw: Agouti - 'Wolf' (wild) color, sometimes called ag ('agouti'). Like ay but the tan is replaced with a pale gray/cream color.
- as: Saddled - Saddle tan.
- at: Tan Point - Black with tan markings on face, chest, legs and the underside of the tail. Sometimes called bi-color.
- a: Recessive Black - Recessive black. The hairs are devoid of agouti markings. E.g. black labrador. Equivalent to 'self' in other mammals.
Default genotype for mating predictions and phenotype deduction: AyAy

C gene (Albino):
The color factor that allows melanin to be formed. In its most recessive form (rare in dogs) the coat would be a pure white albino.
- C: Full Color - Full color expression.
- cch: Chinchilla - Lightens most or all of the phaeomelanin but with little or no effect on eumelanin. E.g. this can turn black+tan to black+silver.
- ce: Extreme Dilution - Extreme dilution of chinchilla. This causes tan to become almost white.
- cb: Blue-Eyed Albino - Coat is white but dog has blue eyes.
- c: Albino - True pink-eyed albino - doesnt seem to occur in dogs.
Default genotype for mating predictions and phenotype deduction: CC

Se gene (Super Extension):
The extension of black over the face and ears as in mastiffs.
- Se: Black Mask - Black mask and ears as in mastiff.
- se: Not Black Mask - No black mask.
Default genotype for mating predictions and phenotype deduction: sese

E gene (Extension):
The degree of the extension of eumelanin over the coat. In the non-extended form there is no eumelanin and the coat is entirely phaeomelanin(red) based.
- E: Normal Extension - Normal extension of eumelanin.
- e: Cream/Orange - Eumelanin suppressed entirely: gives rise to entirely yellow/tan/red dogs.
Default genotype for mating predictions and phenotype deduction: EE

K gene (Dominant Black/Brindle):
The dominant form of black and brindle are found in this series.
- K: Dominant Black - Phaeomelanin suppressed entirely.
- kbr: Brindle - Permits eumelanin to form in layers through a phaeomelanin coat to give a striped effect.
- k: Not Dominant Black/Brindle - Neither brindle nor dominant black.
Default genotype for mating predictions and phenotype deduction: KK

B gene (Chocolate):
Chocolate dilution of eumelanin(black) pigment. Has no effect on phaeomelanin(red) pigment. Also affects eye color, nose leather and paw pads.
- B: Black - No effect.
- b: Chocolate - Dilutes eumelanin (not phaeomelanin) from black to chocolate. Also changes nose pads and paws in a similar way.
Default genotype for mating predictions and phenotype deduction: BB

D gene (Blue Dilution):
Blue dilution - this is the diluting of both eumelanin(black) and phaeomelanin(red) pigments. Black is diluted to a blueish-gray color, whilst reds are diluted to creams.
- D: Undiluted - No effect.
- d: Dilute - Dilutes both eumelanin and phaeomelanin, turning black to blue and red/yellow to cream type colors.
Default genotype for mating predictions and phenotype deduction: DD

G gene (Graying):
Progressive graying (silvering) as the dog ages.
- G: Graying - Causes the coat to 'gray out' with age.
- g: Not Graying - No effect.
Default genotype for mating predictions and phenotype deduction: gg

M gene (Merle):
Causes pigment to be reduced in some areas, leaving flecks and patches of more intense pigment. Also affects eye color. It the homozygous state it is associated with ocular and other defects. Also associated with deafness in conjunction with white spotting genes. Referred to as Dapple in Dachshunds.
- M: Double Merle - When two M alleles present (homozygous) this gives rise to deafness and deformed eyes and is generally to be avoided. The effect of merling is patchy dilution e.g. black becoming patched with gray. Incomplete dominant.
- m: Unmerled - No effect.
Default genotype for mating predictions and phenotype deduction: mm

S gene (White Spotting):
White spotting - piebald. Several recessive alleles with incomplete dominance. Can be associated with deafness when a dog is predominantly white especially in conjunction with Merle.
- S: No White Spotting - No white spotting. Incomplete dominant over lower S series alleles.
- si: Irish White Spotting - Irish spotting. Spotting on most places but does not cross the back. Incomplete dominant over lower S series alleles.
- sp: Piebald - Piebald. More white than irish spotting, with the white often crossing the back. Incomplete dominant over lower S series alleles.
- sw: Extreme Piebald - Extreme white piebald. Associated with deafness, particularly in conjunction with merling.
Default genotype for mating predictions and phenotype deduction: SS

T gene (Ticked):
Spots of colored hairs within otherwise white areas of the coat. It is possible that the Roan colors seen in some breeds are in fact controlled by this gene.
- T: Ticked - Causes ticking, which is the appearance of spots of color in the white parts of a white spotted dog (see S). If a dog has no white, ticking has no effect though it may be carried. The ultimate example of a ticked dog is the Dalmatian.
- t: Unticked - Not ticked.
Default genotype for mating predictions and phenotype deduction: tt

Int gene (Color Intensity):
This gene controls the intensity of phaeomelanin based pigment. This determines whether we insert the word 'Pale' or 'Deep' (or similar) in front of the red-based color name. E.g. 'Deep Red' rather than 'Red'.
- Int: Pale Tan - Lightened intensity of phaeomelanin; no effect on eumelanin.
- intm: Medium Tan - Normal intensity of phaeomelanin; no effect on eumelanin.
- int: Deep Tan - Darker intensity of phaeomelanin; no effect on eumelanin.
Default genotype for mating predictions and phenotype deduction: intmintm

Hd polygene (Hip Dysplasia):
Malformation of the hip joint, possibly leading to osteoarthritis in maturity. More prevalent with larger breeds. This configuration uses the Orthopedic Foundation for Animals (OFA) 7-grade system. We have assigned these grades to values in the range 0.0-7.0, with 7.0 being the best (most excellent). The program assumes an HD grading of 'fair' when not explicitly given.
- Hdsevere: Severe Hips. (0-1)
- Hdmoderate: Moderate Hips. (1-2)
- Hdmild: Mild Hips. (2-3)
- Hdborderline: Borderline Hips. (3-4)
- Hdfair: Fair Hips. (4-5)
- Hdgood: Good Hips. (5-6)
- Hdexcellent: Excellent Hips. (6-7)
Default genotype for mating predictions and phenotype deduction: Hdfair

Cryptorchidism
We do not currently include a gene or genes for modelling cryptorchidism, because there is considerable debate as to the exact nature of the genetics underlying this. It is known that cryptorchidism is, at least to some extent, hereditory, but the exact details of transmission are not known and therefore we do not supply rules to model it.

Deafness
We do not currently include a gene or genes for congenital deafness because the exact mode of transmission appears to be unclear. It may be autosomal recessive involving 2 or more genes. It is known that it is more prevalent when merling is present or increasing amounts of white in the coat. But current knowledge is insufficient to provide an accurate genetic prediction facility within this program.

Tf gene (Tetralogy of Fallot - TF):
Rare but serious combination of four defects affecting the heart and major blood vessels. Autosomal recessive. Affects Keeshond, Bulldog, but others rarely.
- Tf: Not TF - No effect.
- tf: TF - In the homozygote, the dog has TF.
Default genotype for mating predictions and phenotype deduction: TfTf

Vsd gene (Ventricular Septal Defect - VSD):
A hole in the heart septum between the ventricles. Autosomal recessive. Affects Keeshond, Bulldog, but others rarely
- Vsd: Not VSD - No effect.
- vsd: VSD - In the homozygote, the dog has VSD.
Default genotype for mating predictions and phenotype deduction: VsdVsd

Pd gene (Pituitary Dwarfism - PD):
Also known as pituitary hypofunction, hypopituitarism, hyposomatotropism. Reduced pituitary gland function. Autosomal recessive. Affects German Shepherd Dogs, possibly others.
- Pd: Not PD - No effect.
- pd: PD - In the homozygote, the dog has PD.
Default genotype for mating predictions and phenotype deduction: PdPd

Sa gene (Sebaceous Adenitis - SA):
Inflammation and eventual destruction of the sebaceous glands. Autosomal recessive. Affects Akita, Poodle, Samoyed, Vizsla, possibly other breeds.
- Sa: Not SA - No effect.
- sa: SA - In the homozygote, the dog has SA.
Default genotype for mating predictions and phenotype deduction: SaSa

Gcl gene (Globoid Cell Leukodystrophy - GCL):
Also known as Krabbe's disease and galactocerebrosidosis, this is a deficiency of an enzyme necessary for normal metabolic processes resulting in a fatal neurological disorder. Autosomal recessive. Affects Basset Hound, Beagle, Cairn Terrier, Poodle, Pomeranian, West Highland White Terrier.
- Gcl: Not GCL - No effect.
- gcl: GCL - In the homozygote, the dog has GCL.
Default genotype for mating predictions and phenotype deduction: GclGcl

Spi gene (Sphingomyelinosis - SPI):
Also known as Niemann-Pick disease, this is an enzyme deficiency generally resulting in a fatal neurological disorder- a lysosomal storage disease. Effects include exaggerated gait and incoordination. Autosomal recessive.
- Spi: Not SPI - No effect.
- spi: SPI - In the homozygote, the dog has SPI.
Default genotype for mating predictions and phenotype deduction: SpiSpi

No gene (Neuroaxonal Dystrophy - NO):
Progressive disorder involving swellings throughout the brain and spinal cord. Effects include high-stepping gait and lack of coordination. Autosomal recessive. Affects Rottweiler, occasionally other breeds.
- No: Not NO - No effect.
- no: NO - In the homozygote, the dog has NO.
Default genotype for mating predictions and phenotype deduction: NoNo

Nag gene (Narrow Angle Glaucoma - NAG):
The more common for of glaucoma found in dogs. Autosomal dominant. Affects Alaskan Malamute, American Cocker Spaniel, Basset Hound, Chow Chow, Dalmatian, English Cocker Spaniel, Fox Terrier, Great Dane, Poodle, Samoyed, Husky, Welsh Springer Spaniel and possibly others.
- Nag: NAG - The dog has NAG.
- nag: Not NAG - No effect.
Default genotype for mating predictions and phenotype deduction: nagnag

Mdp gene (Myelodysplasia - MDP):
Myelodysplasia, also known as spinal dysraphism, is a congenital spinal cord abnormality. Autosomal dominant. Affects Weimaraner, occasionally other breeds.
- Mdp: MDP - The dog has MDP.
- mdp: Not MDP - No effect.
Default genotype for mating predictions and phenotype deduction: mdpmdp

Edy polygene (Elbow Dysplasia):
Malformation of the elbow joint, possibly leading to osteoarthritis in maturity. This configuration uses the Orthopedic Foundation for Animals (OFA) 7-grade system for hip scores. We have assigned these grades to values in the range 0.0-7.0, with 7.0 being the best (most excellent). The program assumes an HD grading of 'fair' when not explicitly given.
- Edysevere: Severe Elbows. (0-1)
- Edymoderate: Moderate Elbows. (1-2)
- Edymild: Mild Elbows. (2-3)
- Edyborderline: Borderline Elbows. (3-4)
- Edyfair: Fair Elbows. (4-5)
- Edygood: Good Elbows. (5-6)
- Edyexcellent: Excellent Elbows. (6-7)
Default genotype for mating predictions and phenotype deduction: Edyfair

Plx polygene (Patella Luxation):
Looseness of the knee joint (patella). Often congenital.
- Plxsevere: Severe Patella Luxation. (5-6)
- Plxmoderate: Moderate Patella Luxation. (4-5)
- Plxmedium: Medium Patella Luxation. (3-4)
- Plxmild: Mild Patella Luxation. (2-3)
- Plxborderline: Borderline Patella Luxation. (1-2)
- Plxno: No Patella Luxation. (0-1)
Default genotype for mating predictions and phenotype deduction: Plxno