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 Genetics, Color & Coat Type 

Knowing your cats genetics is very important. We take the health of our kitties seriously.

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Our breeding cats have 0 copies, also known as being CLEAR,

of any of these 3 Health Conditions that pertain to Siberians.

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* When a cat carries PKLR, it does not mean they have it. It means that if they were bred with another cat that carried it, then some of the new litter of kittens could either carry or have the potential of developing it. To be a carrier, cat needs to have 1 copy. To be at risk of developing it, cat needs to have 2 copies.

* PKD1 is something to pay close attention to, as only 1 copy is needed to have effects. We will NEVER breed a cat that carries this.

* F12 has 2 variants. V1 and V2 is found in other breeds. In order for this condition to take place, there needs to be a combination of both variants. If we have kitties that carry either PKLR and/or F12 they will be sold as "Pet Only" kittens unless buyer can convince us of their knowledge and expertise at healthy breeding. We will not sell our kittens with or without breeding rights to carless individuals. 

Genetics

Phenotype: The presentation of PKD1 is similar to one of the most common causes of death for any cat, renal failure. Early onset, bilateral presentation (both kidneys), and multiple cysts are all traits of PKD1. The kidney cysts for PKD1 present early, often before 12 months of age. Renal failure, however, usually occurs at a later age.

Mode of Inheritance: Autosomal dominant

Alleles: N= Normal/Unaffected, P= Polycystic kidney disease (PKD1)

  • Cats with N/N genoytpe will not have this heritable form of polycystic kidney disease and cannot transmit this PKD1 variant to their offspring.

  • Cats with N/P genotype will be affected by this heritable form of polycystic kidney disease, though severity of symptoms cannot be predicted. They will transmit this PKD1 variant to 50% of their offspring, and those offspring will inherit this polycystic kidney disease.

  • Cats with P/P genotype are suspected to be lethal and therefore are unlikely to be born and/or survive.

Phenotype: Cats affected by PK deficiency develop anemia. The anemia is intermittent, the age of onset is variable, and clinical signs are also variable. Symptoms of this anemia can include severe lethargy, weakness, weight loss, jaundice, and abdominal enlargement.

Mode of Inheritance: Autosomal recessive

Alleles: N = Normal, K = PK deficiency

Explanation of Results:

  • Cats with N/N genotype will not have PK deficiency. They cannot transmit this PK deficiency variant to their offspring.

  • Cats with N/K genotype will not have PK deficiency, but are carriers. They will transmit this PK deficiency variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% PK deficiency-affected kittens.

  • Cats with K/K genotype will have PK deficiency; severity of symptoms cannot be predicted and may be variable. They will transmit this PK deficiency variant to all of their offspring.

* Factor XII Deficiency information was copied from Wisdom Panel

Factor XII Deficiency - Variant 1

Factor XII Deficiency, also known as Hageman trait, is an asymptomatic blood factor deficiency. While it does not cause an abnormal tendency to bleed, it can be observed as prolonged blood clotting times during certain laboratory screening tests.

Key Signs

Asymptomatic, Clinically prolonged blood clotting times

Age of Onset

At birth - Present at birth

Inheritance

Autosomal Recessive - Asymptomatic

For autosomal recessive, asymptomatic disorders, cats with two copies of the variant will show the variant-associated condition but will not suffer disease due to this genetic cause. Cats with one copy of the variant are called carriers, and although they will not display signs of the condition, they may pass the variant on to their kittens if bred.

Likelihood of the Condition

High likelihood

Cats with two copies of the variant are highly likely to show the variant-associated condition but will not suffer disease due to this genetic cause.

What to Do

Here’s how to care for a cat with Factor XII Deficiency

Partner with your veterinarian to make a plan regarding your cat’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

Veterinarians

Here’s what a vet needs to know about Factor XII Deficiency

Blood coagulation is a complex process involving many pathways. Factor XII, a plasma protein, classically initiates the intrinsic pathway of blood coagulation; although, there are alternative, slower ways to initiate this pathway. Factor XII Deficiency, also known as Hageman Factor Deficiency or Hageman trait, is a commonly inherited blood clotting disorder in cats. Unlike other bleeding disorders, cats deficient in Factor XII are asymptomatic and do not tend to show spontaneous bleeding or abnormal bleeding after surgery or trauma. However, affected individuals can have prolonged clotting time on the activated partial thromboplastin time (aPTT) screening test. Cats who inherit 2 copies of both Factor XII Deficiency (Variant 1) and Factor XII Deficiency (Variant 2) may show even higher aPTT values. Please note that 1 copy of Factor XII Deficiency (Variant 1) and 1 copy of Factor XII Deficiency (Variant 2) will not cause Factor XII Deficiency.

In most cases, Factor XII Deficiency is considered an incidental clinical finding. Unless inherited in conjunction with another disease process, no further steps are necessary as affected cats do not typically show clinical bleeding problems.

Breeders

Planning to breed a cat with this genetic variant?

There are many responsibilities to consider when breeding cats. Regardless of test results it is important that your cat is in good general health and that you are in a position to care for the kittens if new responsible owners are not found. For first time or novice breeders, advice can be found at most cat registry websites.

This condition is autosomal recessive, asymptomatic, meaning that cats with two copies of the variant will show the variant-associated condition but will not suffer disease due to this genetic cause. Current understanding is that a cat with one or two copies of the Factor XII Deficiency variant can be safely bred with a cat with zero, one or two copies of the variant. Please note: It is possible that clinical signs similar to the ones caused by the Factor XII Deficiency mutation could develop due to a different genetic or clinical cause.

Colors

Phenotype: Non-agouti cats do not have alternating pigments in their hair and appear solid aka self-colored.

Mode of Inheritance: Autosomal recessive

Alleles: A = agouti, a = non-agouti

Explanation of Results:

  • Cats with A/A genotype will have agouti banded hair. They will transmit this agouti variant to all of their offspring, and all of their offspring will have banded hair.

  • Cats with A/a genotype will have agouti banded hair. They will transmit this agouti variant to 50% of their offspring, and the offspring of an A/a genotype cat can be agouti or non-agouti depending on the genotype of the mate.

  • Cats with a/a genotype will have self-colored (solid) hair. If bred to another non-agouti cat (a/a genotype), all offspring will also have non-banded, solid-colored hair.

Phenotype: Pigment granules in the hair shaft are clumped and unevenly distributed, producing dilution of coat colors. For example, black pigment is diluted to gray and red is diluted to cream.

Mode of Inheritance: Autosomal recessive

Alleles: D = Wild type (full color), d = Dilute

Explanation of Results:

  • Cats with D/D genotype will be full-colored and cannot transmit this dilute variant to their offspring.

  • Cats with D/d genotype will be full-colored and are carriers of this dilute variant. Matings between two carriers of dilute are predicted to produce 25% dilute kittens.

  • Cats with d/d genotype will display dilute coat color(s) and will transmit this dilute variant to all of their offspring. Matings with other d/d genotype cats are expected to produce all dilute offspring.

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Phenotype: In the Siamese phenotype, pigment expression is restricted to the cat's extremities (paws, tail, ears, face). In the Burmese phenotype, pigment expression is less temperature-sensitive, resulting in more pigment distribution across the body and points that are darker than the body.

Mode of Inheritance: Autosomal recessive (Colorpoint is recessive to Wild type); Incomplete dominance (Burmese colorpoint is incompletely dominant to Siamese colorpoint)

Alleles: C = Wild type (full color), cb = Burmese colorpoint restriction, cs = Siamese colorpoint restriction

Breeds appropriate for testing: Many breeds, particularly breeds with Asian origins

Explanation of Results:

  • Cats with C/C genotype will be full-colored and will not display colorpoint restriction. They cannot transmit colorpoint variants to any of their offspring.

  • Cats with C/cb genotype will be full-colored and are carriers of Burmese colorpoint restriction. They will transmit this Burmese colorpoint variant to 50% of their offspring. Matings between two carriers of Burmese colorpoint restriction are predicted to produce 25% Burmese colorpoint kittens.

  • Cats with C/cs genotype will be full-colored and are carriers of Siamese colorpoint restriction. They will transmit this Siamese colorpoint variant to 50% of their offspring. Matings between two carriers of Siamese colorpoint restriction are predicted to produce 25% Siamese colorpoint kittens.

  • Cats with cb/cb genotype will display Burmese colorpoint restriction and will transmit the Burmese colorpoint variant to all of their offspring.

  • Cats with cs/cs genotype will display Siamese colorpoint restriction and will transmit the Siamese colorpoint variant to all of their offspring.

  • Cats with cb/cs genotype will display Mink colorpoint restriction, an intermediate color between Siamese and Burmese

 

Phenotype: Cats with brown gene variants have reduced eumelanin (black pigment) and appear brownish in color.

Mode of Inheritance: Autosomal recessive (order of dominance is B > b > bl)

Alleles: B = Wild-type black, b= Brown (chocolate), bl = Light brown (cinnamon)

Explanation of Results:

  • Cats with B/B genotype will be full-colored and will not display chocolate or cinnamon coloration. They cannot produce chocolate or cinnamon offspring and cannot transmit these chocolate or cinnamon variants to any of their offspring.

  • Cats with B/b genotype will be full-colored and are carriers of chocolate. They will transmit this chocolate variant to 50% of their offspring. Matings between two carriers of chocolate are predicted to produce 25% chocolate kittens.

  • Cats with B/bl genotype will be full-colored and are carriers of cinnamon. They will transmit this cinnamon variant to 50% of their offspring. Matings between two carriers of cinnamon are predicted to produce 25% cinnamon kittens.

  • Cats with b/b genotype will be chocolate and will transmit this chocolate variant to all of their offspring.

  • Cats with b/bl genotype will be chocolate and are carriers of cinnamon. They will transmit this cinnamon variant to 50% of their offspring. Matings between two carriers of cinnamon are predicted to produce 25% cinnamon kittens.

  • Cats with bl/bl genotype will be cinnamon and will transmit this cinnamon variant to all of their offspring.

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Note: Overall appearance of the cat's coat also depends on expression of and complex interactions with other genes.

Phenotype: The dominant white and white spotting variants cause white patterning in cats.

Mode of Inheritance: Autosomal dominant

Alleles: N = Normal or non-white, DW = Dominant white, Ws = White spotting

Explanation of Results:

  • Cats with N/N genoytpe are not expected to be white (in the absence of albinism) and cannot transmit a dominant white or white spotting variant to their offspring.

  • Cats with N/DW genotype will be white and may have some degree of hearing impairment. They will transmit this dominant white variant to 50% of their offspring, and those offspring are expected to be white.

  • Cats with DW/DW genotype will be white and are likely to have some degree of hearing impairment. They will transmit this dominant white variant to all of their offspring, and all of their offspring are expected to be white.

  • Cats with N/Ws genotype will have white spotting. They will transmit this white spotting variant to 50% of their offspring, and those offspring are expected to be white-spotted.

  • Cats with Ws/Ws genotype will have white spotting. They will transmit this white spotting variant to all of their offspring, and all of their offspring are expected to have white spotting.

  • Cats with DW/Ws genotype will be white and may have some degree of hearing impairment. They will transmit a dominant white variant to 50% of their offspring and a white spotting variant to 50% of their offspring.

Phenotype: The albino mutation produces a white coat with blue eyes.

Mode of Inheritance: Autosomal recessive

Alleles: N = Normal/non-albino, A = Albino

Explanation of Results:

  • Cats with N/N genoytpe will not be albino and cannot transmit this albino variant to their offspring.

  • Cats with A/N genotype will not be albino, but are carriers. They will transmit this albino variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% albino kittens.

  • Cats with A/A genotype will be albino, and will transmit this albino variant to all of their offspring. Matings between two A/A genotype cats are predicted to produce all albino kittens.

Coat Type

About coat length

The fibroblast growth factor 5 (FGF5) gene determines the length of a cat's hair. The wild-type form of the gene causes short hair and is dominant.

Four mutations have been identified in the FGF5 gene that are associated with long hair; these mutations are recessive. Long haired cats have either two copies of the same mutation or two different mutations. The M4 mutation is found in all breeds of long-haired cat, whilst the M1, M2 and M3 mutations are more breed specific.

 

Mutation #1 (M1) - Found in Ragdoll and Siberian

Mutation #2 (M2) - Found in Norwegian Forest Cat, Siberian, Tiffanie, Asian and Burmilla

Mutation #3 (M3) - Found in Ragdoll, Maine Coon and Devon Rex. Also very rarely in British Shorthairs.

Mutation #4 (M4) - Found in all breeds of cat including Ragdoll, Maine Coon, Norwegian Forest Cat, Siberian, Tiffanie, Asian, Burmilla and Devon Rex

Interpretation of results

N/N - the cat does not have the respective long hair mutation. It will have short hair.

N/M1, N/M2, N/M3, N/M4 - the cat carries one copy of the respective long hair mutation. It will have short hair.

M1/M1, M2/M2, M3/M3, M4/M4- the cat has two copies of the respective long hair mutation. It will have long hair.

If the cat carries TWO of the long hair mutations (N/M1 & N/M2 or N/M1 & N/M3 or N/M1 & N/M4 or N/M2 & N/M3 or N/M2 & N/M4 or N/M3 & N/M4) it will have long hair

Toodles

A/a, C/cs, M1/M1

Thomas J

a/a, d/d, C/cs, M1/M4

Dolly

A/a, W/ws, d/d, cs/cs, M2/M4, N/F12

Sweet Pea

A/a, D/d, C/cs, M2/M4

Westley

A/a, D/d, cs/cs, M1/M4

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