Reminder: Login to access new features and members-only content!

Register to be a member of our community. Its easy!

Register a new account

Already a member?

Log In here!

Donate

Did you find our content interesting or helpful? Help support the IPFD enhance health, well-being and welfare for dogs everywhere.

Jump to content
  •   Language
  • Sign Up

International Partnership for Dogs - Enhancing Dog Health, Well-Being, and Welfare - Join Us.

Primary Ciliary Dyskinesia

Breed: Bobtail/ Old English Sheepdog

Generic Phene Data

Breeds

Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed

General

Disease Name
Primary Ciliary Dyskinesia
Mutation
C.286C>T
Test Type
Genetic Disease/Disorder
Details
PCD is identified by a defects in cilia, during development, and is present from birth. Dogs experience frequent infections of the upper and lower respiratory tract. There are also reports of reduced fertility in males.
Details 2
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by abnormally functioning cilia. The main clinical signs are recurrent or persistent respiratory infections because of the lack of effective ciliary motility causing abnormal mucociliary clearance.[1] The dysfunction of the monocilia of the embryonic node might also lead to the randomization of the left-right body asymmetry and transposition of the thoracic and abdominal organs in 50% of the cases called the Kartagener's syndrome.[2] Male fertility can be impaired because of defects of the spermatozoa flagella. Disorders such as hydrocephalus or serous otitis have occasionally been reported. (from Merveille et al, 2014)
Published
Merveille, A.C., Davis, E.E., Becker-Heck et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 43:72-8, 2011. Pubmed reference: 21131972. DOI: 10.1038/ng.726.

Breed Specific Info

Researched Breeds
Old English Sheepdog

Breed Specific Data

VetGen LLC

GTP Name
VetGen LLC
Gene Name
CCDC39
Mutation
c.286C>T

DNA My Dog

GTP Name
DNA My Dog
GTP Disease Name
Kartagner syndrome
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Merveille, A.C., Davis, E.E., Becker-Heck et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 43
Application in the Breed
Carriers may be bred to normal animals (N/pcd x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/pcd x N/pcd) nor of affected animals (pcd/pcd). Frequent infections of the upper and lower respiratory tract. Reduced fertility in males, and defects in cilia ( situs inversus during development)
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
16
GTP Breed
Bobtail

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
GTP Disease Name
Kartagner syndrome
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Merveille, A.C., Davis, E.E., Becker-Heck et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 43
Application in the Breed
Carriers may be bred to normal animals (N/pcd x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/pcd x N/pcd) nor of affected animals (pcd/pcd). Frequent infections of the upper and lower respiratory tract. Reduced fertility in males, and defects in cilia ( situs inversus during development)
Inheritance
AR
FCI Number
16
GTP Breed
Bobtail

Paw Print Genetics

GTP Name
Paw Print Genetics
GTP Disease Name
Kartagner syndrome
GTP Disease Synonym
Primary Ciliary Dyskinesia
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
FCI Number
16
GTP Breed
Bobtail

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
GTP Disease Name
Kartagner syndrome
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Merveille, A.C., Davis, E.E., Becker-Heck et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 43
Application in the Breed
Carriers may be bred to normal animals (N/pcd x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/pcd x N/pcd) nor of affected animals (pcd/pcd). Frequent infections of the upper and lower respiratory tract. Reduced fertility in males, and defects in cilia ( situs inversus during development)
Inheritance
AR
FCI Number
16
GTP Breed
Bobtail

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
GTP Disease Name
Kartagner syndrome
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Merveille, A.C., Davis, E.E., Becker-Heck et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 43
Application in the Breed
Carriers may be bred to normal animals (N/pcd x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/pcd x N/pcd) nor of affected animals (pcd/pcd). Frequent infections of the upper and lower respiratory tract. Reduced fertility in males, and defects in cilia ( situs inversus during development)
Inheritance
AR
FCI Number
16
GTP Breed
Bobtail

Genomia s.r.o

GTP Name
Genomia s.r.o
GTP Disease Name
Kartagner syndrome
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
FCI Number
16
GTP Breed
Bobtail

EVG Diagnostics

GTP Name
EVG Molecular Diagnostics
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Nature Genetics 43, 72?78 (2011)

Embark

GTP
GTP Name
Embark
GTP Disease Name
Kartagner syndrome
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Merveille, A.C., Davis, E.E., Becker-Heck et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 43
Application in the Breed
Carriers may be bred to normal animals (N/pcd x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/pcd x N/pcd) nor of affected animals (pcd/pcd). Frequent infections of the upper and lower respiratory tract. Reduced fertility in males, and defects in cilia ( situs inversus during development)
Inheritance
AR
FCI Number
16
GTP Breed
Bobtail

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
GTP Disease Name
Kartagner syndrome
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Merveille, A.C., Davis, E.E., Becker-Heck et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 43
Application in the Breed
Carriers may be bred to normal animals (N/pcd x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/pcd x N/pcd) nor of affected animals (pcd/pcd). Frequent infections of the upper and lower respiratory tract. Reduced fertility in males, and defects in cilia ( situs inversus during development)
Inheritance
AR
FCI Number
16
GTP Breed
Bobtail

Antagene

GTP
GTP Name
Antagene
GTP Disease Name
Kartagner syndrome
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Merveille, A.C., Davis, E.E., Becker-Heck et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 43
Application in the Breed
Carriers may be bred to normal animals (N/pcd x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/pcd x N/pcd) nor of affected animals (pcd/pcd). Frequent infections of the upper and lower respiratory tract. Reduced fertility in males, and defects in cilia ( situs inversus during development)
Inheritance
AR
FCI Number
16
GTP Breed
Bobtail
×
×
  • Create New...

Important Information

By using this site, you agree to our Terms of Use.