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Persistent Müllerian duct syndrome (PMDS)

Test number: 8462
Gene: PMDS
Price: £ 48.00 (including VAT)
Breed
Miniature Schnauzer .
The Disease
Muellerian ducts (paramesonephric ducts) are small structures that exist in both male and female embryos during the early fetal development, at 35-36 days of gestation, the embryo begins to differentiate into male or female. In the female, Muellerian ducts will develop to form the uterine tubes, uterus, cervix, and the upper one-third of the vagina. In the male, Muellerian ducts are lost because the testes starts producing a hormone that causes regression of the Mullerian ducts.

In Miniature Schnauzer males which are affected by Persistent Müllerian duct syndrome (PMDS), the Müllerian ducts fail to regress during sexual differentiation, and therefore, all Müllerian duct derivatives, bilateral oviducts, a complete uterus with cervix and the cranial portion of the vagina, are also present.

Approximately 50% of affected dogs have normally descended testes and are fertile . However, the remaining 50% have unilateral or bilateral cryptorchidism, and as a result can be infertile and develop testicular tumors.

Treatment involves surgical procedures and significant expenses for dog owners. Prevention is limited to the elimination of affected dogs and carriers from the breeding population. In the miniature schnauzer, PMDS is inherited as an autosomal recessive trait with expression limited to homozygous males. Both males and females can be carriers. However, affected dogs cannot be identified by physical examination alone, particularly if they are not cryptorchid. Similarly, carriers cannot be detected, as they are reproductively normal males or females. A DNA test is now available to identify dogs as clear, carrier or affected.

Females with one or tow copies of the mutation will have normal internal and external female anatomy.

Males with one copy of the mutation will not develop the disease.

About 50% of Males with two copies of the mutation are likley to express the disease.

Avoid breeding carrier to carrier.

Trait of Inheritance
Sex-Limited Autosomal Recessive

Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

 

Dam

 

Offspring

         
clear
clear
100% clear
         
clear
carrier
50%  clear + 50% carriers
         
clear
affected
100% carriers
         
carrier
clear
50%  clear + 50% carriers
         
carrier
carrier
25% clear + 25% affected + 50% carriers
         
carrier
affected
50% carriers + 50% affected
         
affected
clear
100%  carriers
         
affected
carrier
50% carriers + 50% affected
         
affected
affected
100% affected

 


Clear

Genotype: N / N [ Homozygous normal ]

The dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop Persistent Müllerian duct syndrome (PMDS). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / PMDS [ Heterozygous ]

The dog carries one copy of the mutant gene and one copy of the normal gene.

It is very unlikely that the dog will develop Persistent Müllerian duct syndrome (PMDS) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%.

Carriers should only be bred to clear dogs.

Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)

 

Affected

Genotype: PMDS / PMDS [ Homozygous mutant ]

 

The dog carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.

About 50% of affected males with two copies of the mutation (PMDS/PMDS) are likley to express the disease.

Sample Requirements
Buccal Swabs or 0.5 - 1 ml blood in EDTA Blood Tube
Turnaround
2 - 3 weeks
Price
£ 48.00 (including VAT)

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