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Persistent Mullerian Duct Syndrome
Breed: Miniature Schnauzer/ black
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Persistent Mullerian Duct Syndrome
OMIA
791
Gene Name
AMHR2/MISRII
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.
Body/System/Process
Reproductive
OMIA Url
Inheritance
AR
HSP Test-Specific Data
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
AMHR2
Mutation
c.238C>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
AMHR2
Mutation
c.238C>T
University of Minnesota Canine Genetics Lab
GTP
GTP Name
University of Minnesota Canine Genetics Lab
Breed
OMIA
Gene Name
AMHR2/MISRII
Mutation
c.238C>T
FCI Number
183
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
AMHR2
Mutation
c.238C>T
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
AMHR2
Mutation
c.238C>T
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Persistent Mullerian Duct Syndrome
Gene Name
AMHR2
Mutation
c.238C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 Canin
Application in the Breed
Carriers may be bred to normal animals (N/pmds x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/pmds x N/pmds) nor of affected animals (pmds/pmds). 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.
Inheritance
AR
FCI Number
183
GTP Breed
Miniature Schnauzer/ Black
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
AMHR2
Mutation
c.238C>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
AMHR2
Mutation
c.238C>T
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
AMHR2
Mutation
c.238C>T
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
AMHR2
Mutation
c.238C>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
AMHR2
Mutation
c.238C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
AMHR2
Mutation
c.238C>T
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Persistent Mullerian Duct Syndrome
Gene Name
AMHR2
Mutation
c.238C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 Canin
Application in the Breed
Carriers may be bred to normal animals (N/pmds x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/pmds x N/pmds) nor of affected animals (pmds/pmds). 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.
Inheritance
AR
FCI Number
183
GTP Breed
Miniature Schnauzer/ Black
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