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 Hereditary Cataract (PHC)

Breed: Australian Shepherd

Generic Phene Data

Breeds

Relevance Rating: There is some evidence or research available for these 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 for these breeds

General

Disease Name
Primary Hereditary Cataract (PHC)
Gene Name 2
HSF4-2
Mutation
g.85286582delC
Mutation 2
g.85286582_3insC
Test Type
Genetic Disease/Disorder
Details
Affected dogs develop cataracts in both eyes at an early age. The condition is not congenital, so the lenses are normal at birth but cataracts appear at a few weeks to months in age, progressing to total cataract (and resulting blindness) by 2 to 3 years of age.
Details 2
Affected dogs develop cataracts in both eyes at an early age. The condition is not congenital, so the lenses are normal at birth but cataracts appear at a few weeks to months in age, progressing to total cataract (and resulting blindness) by 2 to 3 years of age.
Published
Mellersh, CS., Mclaughlin, B., Ahonen, S., Pettitt, L., Lohi, H., Barnett, KC.: Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd. Vet Ophthalmol 12:372-8, 2009. Pubmed reference: 19883468. DOI: 10.1111/j.1463-5224.2009.00735.x.

Breed Specific Info

Breed-specific 1
Australian Shepherd, Boston Terrier, Staffordshire Bull Terrier

Breed Specific Data

Animal Genetics Inc

GTP Name
Animal Genetics Inc
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
HSF4
Mutation
g.85286582delC

Animal Health Trust (UK)

GTP Name
Animal Health Trust (UK)
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd

Antagene

GTP
GTP Name
Antagene
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd

BioBank AS

GTP Name
BioBank AS
Gene Name
HSF4
Mutation
g.85286582delC

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Mellersh, CS., Mclaughlin, B., Ahonen, S., Pettitt, L., Lohi, H., Barnett, KC.: Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd. Vet Ophthalmol 12:372-8, 2009. Pubme
Application in the Breed
No breeding of affected animals (n/PHC, PHC/PHC). Opaque cataracts are usually fully covering both eyes by 2 ? 3 years of age, resulting in full blindness
Inheritance
AR
FCI Number
342
GTP Breed
Australian Shepherd

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
HSF4
Mutation
g.85286582delC

CMSCH

GTP
GTP Name
CMSCH
Gene Name
HSF4
Mutation
g.85286582delC

DNA My Dog

GTP Name
DNA My Dog
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
342
GTP Breed
Australian Shepherd

Embark

GTP
GTP Name
Embark
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Mellersh, CS., Mclaughlin, B., Ahonen, S., Pettitt, L., Lohi, H., Barnett, KC.: Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd. Vet Ophthalmol 12:372-8, 2009. Pubme
Application in the Breed
No breeding of affected animals (n/PHC, PHC/PHC). Opaque cataracts are usually fully covering both eyes by 2 ? 3 years of age, resulting in full blindness
Inheritance
AR
FCI Number
342
GTP Breed
Australian Shepherd

EVG Diagnostics

GTP Name
EVG Molecular Diagnostics
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Vet Ophthalmol. 2006 Sep-Oct;9(5):369-78

Genomia s.r.o

GTP Name
Genomia s.r.o
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd

GenSol Diagnostics

GTP Name
GenSol Diagnostics
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC

INNO

GTP
GTP Name
INNO
Gene Name
HSF4
Mutation
g.85286582delC

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
HSF4
Mutation
g.85286582delC

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd

Paw Print Genetics

GTP Name
Paw Print Genetics
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
FCI Number
342

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
HSF4
Mutation
g.85286582delC

Independent Veterinary Laboratory POISK

GTP Name
Independent Veterinary Laboratory POISK
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
HSF4
Mutation
g.85286582delC

Veterinary Genetics Laboratory

GTP Name
Veterinary Genetics Laboratory
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Ricketts, S.L., Pettitt, L., McLaughlin, B., Jenkins, C.A., Mellersh, C.S. A novel locus on canine chromosome 13 is associated with cataract in the Australian Shepherd breed of domestic dog. Mamm Genome :, 2015. Pubmed reference: 25894238. DOI: 10.1007/s00335-015-9562-2. 2015

VetGen LLC

GTP Name
VetGen LLC
Gene Name
HSF4
Mutation
g.85286582delC

VHL Genetics

GTP Name
VHL Genetics
Gene Name
HSF4
Mutation
g.85286582delC

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
HSF4
Mutation
g.85286582delC

The Kennel Club

GTP Name
The Kennel Club
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
This test is outsourced to:
Weatherby's
×
×
  • Create New...

Important Information

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