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Persistent Mullerian Duct Syndrome

Breed: Miniature Schnauzer/ Pepper and salt

Generic Phene Data

General

Disease Name
Persistent Mullerian Duct Syndrome
Mutation
c.238C>T
Test Type
Genetic Disease/Disorder
Details
Unilaterally or bilaterally cryptorchid, those with at least one descended testicle are fertile. Internally, female organs also exist in affected male dogs, including oviducts, uterus, and cervix.
Details 2
Homozygous affected males have normal male external genitalia, except that approximately 50% are unilaterally or bilaterally cryptorchid. PMDS males having at least one descended testicle can be fertile. Carrier males and carrier females are reproductively normal. PMDS dogs may present at any age as a dog with normal male external genitalia or a cryptorchid dog. If cryptorchid, they may present as an adult with signs of testicular tumor. As pyometra can be a sequelae, affected dogs may present with typical signs,such as polydipsia, polyuria and inappetance. (From OMIA)
Published
Wu, X., Wan, S., Pujar, S., Haskins, ME., Schlafer, DH., Lee, MM., Meyers-Wallen, VN. : A Single Base Pair Mutation Encoding a Premature Stop Codon in the MIS type II receptor is Responsible for Canine Persistent Mullerian Duct Syndrome. J Androl 30:46-56, 2009. , Pujar, S., Meyers-Wallen, VN. : A molecular diagnostic test for persistent Müllerian duct syndrome in miniature schnauzer dogs. Sex Dev 3:326-8, 2009. Pubmed reference: 20051676. DOI: 10.1159/000273264.

Breed Specific Data

University of Minnesota Canine Genetics Lab

GTP Name
University of Minnesota Canine Genetics Lab
Gene Name
AMHR2/MISRII
Mutation
c.238C>T
FCI Number
183
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