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Persistent Muellerian Duct Syndrome      PMDS Test       Code 368


For breeds: Miniature Schnauzers

OptiGen is pleased to offer a DNA test for Persistent Muellerian Duct Syndrome (PMDS). PMDS in the Miniature Schnauzer is caused by a mutation in the MISRII gene and is inherited as a sex-limited autosomal recessive trait (1). This means that the disease is only observed in males that carry two copies of the mutation (are homozygous for the MISRII mutation). Females that are homozygous for the mutation do not develop disease but will transmit the mutation to offspring. Carriers of one copy of the MISRII mutation do not have the disease.

Clinical signs/phenotype:

Males with PMDS have complete male internal genitalia however they also develop some of the female internal genitalia that can interfere with descent of the testes into the scrotum. Approximately half of the males with PMDS are either uni-laterally or bi-laterally cryptorchid. PMDS males with descended testes are fertile, however they frequently have reduced sperm count. PMDS males with bi-lateral cryptorchidism are sterile. Uni-lateral cryptorchid PMDS males have much reduced fertility. As in other cryptorchid dogs, PMDS-affected males commonly develop Sertoli cell tumors. Pyometra (infection of the uterus) is also reported in PMDS males.

Frequency of the MISRII mutation:

Because approximately 50% of the PMDS males are not cryptorchid and females do not show the disease, the frequency of the MISRII mutation in Miniature Schnauzers may be surprisingly high. A random selection of 20 unrelated Miniature Schnauzers previously tested for Type A PRA at OptiGen revealed that 7 of the dogs carried one copy of the MISRII mutation. These carriers were submitted from dogs originating in Europe, Asia and North America, so the mutation does appear to have wide geographic distribution.

Breeding strategies: In order to avoid producing PMDS males, at least one parent of any litter should be DNA tested and shown to be Normal/Clear of the PMDS mutation.

Expected Results of Breeding Strategies using the mutation test for PMDS:
Only Affected males develop disease. "Affected" females are asymptomatic.

Parent 1
Genotype
Parent 2     Genotype
NormalCarrierAffected
NormalAll = Normal1/2 = Normal
1/2 = Carriers
All = Carriers
Carrier1/2 = Normal
1/2 = Carriers
1/4 = Normal
1/2 = Carriers
1/4 = Affected
1/2 = Carriers
1/2 = Affected
AffectedAll = Carriers1/2 = Carriers
1/2 = Affected
All = Affected

Reference:

  1. Wu et al., (2009) A Single Base Pair Mutation Encoding a Premature Stop Codon in the MIS Type II Receptor is Responsible for Canine Persistent Muellerian Duct Syndrome. J of Androl. 2009 Jan-Feb; 30(1): 46-56.

 


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Tel: 607 257 0301 · Fax: 607 257 0353 · email: genetest@optigen.com or optigen@clarityconnect.com
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