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Retina International's
Scientific Newsletter
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Animal Model Database
Domestic Animals
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Recent update from: 13.08.2002
- Canidae
- Felidae
- Aves
- Artiodactyla
You are always welcome to give your comments.
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Canidae
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Species: Canis familiaris
Race:
Occurrence of the model: naturally |
Disease: prcd
Inheritance: ar
Assignment:
Gene:
Mutation(s):
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| Phenotype, morphological
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| Phenotype, clinic
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| Phenotype, electrophysiological
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| Phenotype, biochemical
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| Remarks
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Human counterpart:
Human disease: RP17 |
Reference:
(2)
Online Reference:
Online Data:
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Species: Canis familiaris
Race: Cardigan Welsh Corgi
Occurrence of the model: naturally |
Disease: rcd-3
Inheritance: ar
Assignment:
Gene: Pdea
Mutation(s): 1939delA |
| Phenotype, morphological
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Phenotype, clinic
- Progressive retinal atrophy (PRA)
- Ophthalmoscopically detectable between 6 and 16 w of age
- Blind before 1 y
- Some retain limited vision until 3 or 4 y
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| Phenotype, electrophysiological
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| Phenotype, biochemical
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| Remarks
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Human counterpart: PDEA
Human disease:
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Reference:
(11)
(12)
Online Reference:
Online Data:
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Species: Canis familiaris
Race: Collie
Occurrence of the model:
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Disease: rcd2
Inheritance: ar
Assignment:
Gene: pde6d
Mutation(s): none |
| Phenotype, morphological
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| Phenotype, clinic
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| Phenotype, electrophysiological
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| Phenotype, biochemical
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| Remarks
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Human counterpart:
Human disease:
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Reference:
(16)
Online Reference:
Online Data:
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Species: Canis familiaris
Race: Irish Setter
Occurrence of the model: naturally |
Disease: rcd-1
Inheritance: ar
Assignment:
Gene: Pde6b
Mutation(s): W807X (TGG-TAG) |
| Phenotype, morphological
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Phenotype, clinic
- Degeneration starts at 1 m and ensues over 3 m
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| Phenotype, electrophysiological
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Phenotype, biochemical
- cGMP-levels rise higher than in rd mice
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Remarks
- Reduced mRNA levels
- Unstable gene product
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Human counterpart:
Human disease:
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Reference:
(14)
Online Reference:
Online Data:
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Species: Canis familiaris
Race: Miniature Schnautzer
Occurrence of the model: naturally |
Disease: pd
Inheritance: ar
Assignment:
Gene: pdc
Mutation(s): R82G (CGA - GGA) |
| Phenotype, morphological
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| Phenotype, clinic
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| Phenotype, electrophysiological
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| Phenotype, biochemical
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Remarks
- Involvement in pd not confirmed though only pd-dogs and none of 48 other healthy dogs carry the mutation
- Mutation close to Glu 85 which interacts with GNB/GNG
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Human counterpart: PDC
Human disease: RP |
Reference:
(20)
Online Reference:
Online Data:
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Species: Canis familiaris
Race: Poodle, Irish Setter
Occurrence of the model: naturally |
Disease: prcd
Inheritance: ar
Assignment: Dog 9
Gene:
Mutation(s):
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| Phenotype, morphological
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| Phenotype, clinic
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| Phenotype, electrophysiological
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Phenotype, biochemical
- Significant lower levels of 22:6w3 fatty acids und cholesterol
- Indicates desaturase defect
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| Remarks
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Human counterpart:
Human disease: RP17 |
Reference:
(4)
Online Reference:
Online Data:
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Species: Canis familiaris
Race: Siberian Husky
Occurrence of the model: naturally |
Disease: XLPRA
Inheritance: xl
Assignment: Dog X
Gene:
Mutation(s):
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| Phenotype, morphological
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| Phenotype, clinic
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| Phenotype, electrophysiological
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| Phenotype, biochemical
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Remarks
- Tight linkage to rpgr polymorphism (LOD 1.17 theta=zero)
- No disease-causing mutation in rpgr
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Human counterpart:
Human disease: RP3 |
Reference:
(19)
Online Reference:
Online Data:
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Species: Canis familiaris
Race: Swedish Briard
Occurrence of the model: naturally |
Disease: CSNB, retinal dystrophy
Inheritance: ar
Assignment:
Gene: Rpe65
Mutation(s): 487delAAGA |
Phenotype, morphological
- Progressive component
- Pathologic changes mainly in RPE and photolayers
- Accumulation of cytoplasmic inclusions (lipid?)
- Loss of ROS in 7 year old dogs
- Shortened but preserevd COS in older dogs
- Extensive loss in the periphery
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Phenotype, clinic
- Severe reduced day vision
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Phenotype, electrophysiological
- Normal waveform
- Reduced amplitude
- Complete absence of a-, b-, and c-wave (DC conditions)
- c-wave: very slow negative potential
- Flicker resulted in low amplitude signals
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| Phenotype, biochemical
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Remarks
- Small, membrane bound, electron dense inclusions were scattered in the RPE cytoplasma
- Inclusions may be lysosomal
- No structural abnormalities in RIS and inner retina
- Cones were better preserved
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Human counterpart: RPE65
Human disease:
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Reference:
(3)
(10)
(15)
(18)
Online Reference:
Online Data:
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Species: Canis familiaris
Race: Swedish Briard
Occurrence of the model: naturally |
Disease: CSNB, retinal dystrophy
Inheritance: ar
Assignment:
Gene: Rpe65
Mutation(s): 487delAAGA |
| Phenotype, morphological
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Phenotype, clinic
- After treatment
- BR33 scored as normal sighthed in photopic conditions
- Avoidance of objects directly in front in red dim light
- Threshold intensity to create a pupilary response was improved
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Phenotype, electrophysiological
- In unteated -/- dogs threshold was elevated by over 4.5 log units and higher energy and ssturating stimuly in WT dogs did not yield detectable signals
- In treated dogs ERG amplitudes correspond to the fraction of transformed retinal area
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| Phenotype, biochemical
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Remarks
- Gene therapy with AAV-Rpe65
- 3 dogs, each 1 eye
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Human counterpart: RPE65
Human disease:
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Reference:
(1)
Online Reference:
Online Data:
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Species: Canis familiaris
Race: Swedish Briard
Occurrence of the model: naturally |
Disease: LCA
Inheritance: ar
Assignment:
Gene:
Mutation(s):
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Phenotype, morphological
- Disorientation of ROS disc membranes in 5 w old dogs
- Large electron-lucent inclusionsin RPE at 3.5 m
- Inclusions spread towards periphery
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| Phenotype, clinic
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| Phenotype, electrophysiological
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| Phenotype, biochemical
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Remarks
- Congenital night blindness
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Human counterpart:
Human disease:
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Reference:
(17)
Online Reference:
Online Data:
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Species: Canis familiaris
Race: Swedish Briard
Occurrence of the model: naturally |
Disease: LCA
Inheritance: ar
Assignment:
Gene:
Mutation(s):
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Phenotype, morphological
- Disoriented and disorganized ROS
- Better preserved COS
- From 4 m on in RPE large 'empty' inclusions in the central area of the fundus
- Inclusions become confluent at 11 m
- Inner segments appear to be normal
- ONL reduced to 3-6 rows
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| Phenotype, clinic
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Phenotype, electrophysiological
- 7 - 12 m old dogs
- No definite a- or b-wave at dark adaptation
- 30 Hz flicker reduced by 50-70%
- c-wave replced by a very prominent negative potential
- Extremely long latency of the negative potential
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Phenotype, biochemical
- Higher levels of PE
- Lower levels of PC
- No change in neutral lipids
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| Remarks
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Human counterpart:
Human disease:
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Reference:
(5)
Online Reference:
Online Data:
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Species: Canis familiaris
Race: Walker hound, Beagle
Occurrence of the model:
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Disease: CRPA
Inheritance:
Assignment:
Gene:
Mutation(s):
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Phenotype, morphological
- Abnormal accumulations of lipopigments within RPE
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Phenotype, clinic
- Progressive vision loss
- Onset 3 - 5 y
- Progresses to blindness over years
- Pigment clumps in the tapetal fundus
- Multifocal, coalescing areas of hypofluorescens in tapetal fundus
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Phenotype, electrophysiological
- Changes in b-wave (15 - 136 mV)
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Phenotype, biochemical
- In serum plasma:
- [Vitamin E] = ~2.86 mg/ml
- [Retinol] = ~317.18 ng/ml
- [Se] = ~167.5 ng/ml
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Remarks
- Dog diet:
- food scraps
- red meat
- fat from restaurant
- Phenotype compatible with antioxdant deficiency
- Degeneration likely to vitamin E deficiency
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Human counterpart:
Human disease:
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Reference:
(7)
Online Reference:
Online Data:
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- Felidae
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Species: Felis catus (domesticus)
Race:
Occurrence of the model: naturally |
Disease: Rdy
Inheritance: ad
Assignment:
Gene:
Mutation(s):
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Phenotype, morphological
- Photoreceptor degeneration between 5 - 7 w
- TUNEL peaked in ONL at 9 w
- PCD
- Maximal loss between 9 - 13 w
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Phenotype, clinic
- Early onset
- Rod/cone dysplasia
- First signs at 8 - 12 w
- Slow dilated pupils and sluggish pupillary reflex from 2 w on
- Intermittent rotatory nystagmus between 4 - 6 w
- Progressive attenuation of retinal vessels and optic atrophy
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| Phenotype, electrophysiological
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| Phenotype, biochemical
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| Remarks
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Human counterpart:
Human disease:
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Reference:
(6)
Online Reference:
Online Data:
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- Aves
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Species: Gallus gallus (domesticus)
Race:
Occurrence of the model: naturally |
Disease: rd
Inheritance: ar
Assignment:
Gene: GC1
Mutation(s): del exon 4 - 7 |
Phenotype, morphological
- Normal at hatching
- Loss of cones and rods
- No effect on normal photoreceptor development
- No signs of degeneration at P1
- Pathology after P7 - 10 limited to the central retina
- Central to peripheral progression completed at P115
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| Phenotype, clinic
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Phenotype, electrophysiological
- No light response in ERG at P0
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Phenotype, biochemical
- cGMP level is 5 - 10 times lower in rd/rd
- GC1 is absent from rd/rd retinas
- Mechanism: permanent closure of CNCG at low cGMP levels
- => chronically hyperolarized cells
- => chronically elevated neurotransmitter
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| Remarks
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Human counterpart: RetGC1
Human disease: LCA |
Reference:
(13)
Online Reference:
Online Data:
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- Artiodactyla
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Species: Sus scrofa
Race:
Occurrence of the model: artificial |
Disease: RP
Inheritance: ad
Assignment:
Gene: Rho
Mutation(s): Pro 347 Leu |
Phenotype, morphological
- Early, severe, rod degeneration
- Nearly complete at 8 postnatal weeks, no rods after 20 months
- Preserved cone monolayer up to 87 weeks
- RHO localization in newborn rods is consistent with misrouting of the mutant
- Disorganized ROS
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| Phenotype, clinic
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| Phenotype, electrophysiological
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| Phenotype, biochemical
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| Remarks
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Human counterpart: RHO
Human disease: ADRP |
Reference:
(8)
Online Reference:
Online Data:
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Species: Sus scrofa
Race:
Occurrence of the model: artificial |
Disease: RP
Inheritance: ad
Assignment:
Gene: Rho
Mutation(s): Pro 347 Ser |
Phenotype, morphological
- Normal cones after 4 weeks
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| Phenotype, clinic
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| Phenotype, electrophysiological
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| Phenotype, biochemical
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| Remarks
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Human counterpart: RHO
Human disease:
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Reference:
(9)
Online Reference:
Online Data:
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References
- Acland,G.M., Aguirre,G.D., Ray,J., Zhang,Q., Aleman,T.S., Cideciyan,A.V., Pearce-Kelling,S.E., Anand,V., Zeng,Y., Maguire,A.M., Jacobson,S.G., Hauswirth,W.W., and Bennett,J. Gene therapy restores vision in a canine model of childhood blindness. 2001; Nat.Genet. 28: 92-95.
Link to PubMed
Goto Top
- Acland,G.M., Ray,K., Mellersh,C.S., Gu,W., Langston,A.A., Rine,J., Ostrander,E.A., and Aguirre,G.D. Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans. 1998; Proc.Natl.Acad.Sci.U.S.A. 95: 3048-3053.
Link to PubMed
Goto Top
- Aguirre,G.D., Baldwin,V., Pearce Kelling,S., Narfstrom,K., Ray,K., and Acland,G.M. Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. 1998; Mol.Vis. 4: 23
Link to PubMed
Human Mutation Online
Goto Top
- Anderson,R.E., Maude,M.B., Alvarez,R.A., Acland,G.M., and Aguirre,G.D. Plasma lipid abnormalities in the miniature poodle with progressive rod-cone degeneration. 1991; Exp.Eye Res. 52: 349-355.
Goto Top
- Anderson,R.E., Maude,M.B., Narfstrom,K., and Nilsson,S.E. Lipids of plasma, retina, and retinal pigment epithelium in Swedish briard dogs with a slowly progressive retinal dystrophy. 1997; Exp.Eye Res. 64: 181-187.
Link to PubMed
Goto Top
- Chong,N.H., Alexander,R.A., Barnett,K.C., Bird,A.C., and Luthert,P.J. An immunohistochemical study of an autosomal dominant feline rod/cone dysplasia (Rdy cats). 1999; Exp.Eye Res. 68: 51-57.
Link to PubMed
Goto Top
- Davidson,M.G., Geoly,F.J., Gilger,B.C., McLellan,G.J., and Whitley,W. Retinal degeneration associated with vitamin E deficiency in hunting dogs. 1998; J.Am.Vet.Med.Assoc. 213: 645-651.
Link to PubMed
Goto Top
- Li,Z.Y., Wong,F., Chang,J.H., Possin,D.E., Hao,Y., Petters,R.M., and Milam,A.H. Rhodopsin transgenic pigs as a model for human retinitis pigmentosa. 1998; Invest.Ophthalmol.Vis.Sci. 39: 808-819.
Link to PubMed
Goto Top
- Moon,S.J., Hao,Y., Petters,R.M., and Wong,F. Photoreceptor Degeneration In Rhodopsin P347S Transgenic Pigs. 1998; Invest.Ophthalmol.Vis.Sci. 39: S880
Goto Top
- Nilsson,S.E., Wrigstad,A., and Narfstrom,K. Changes in the DC electroretinogram in Briard dogs with hereditary congenital night blindness and partial day blindness. 1992; Exp.Eye Res. 54: 291-296.
Link to PubMed
Goto Top
- Petersen-Jones,S.M., Entz,D., and Sargan,D.R. Mutation Linked To cGMP-Phosphodiesterase Alpha Gene Causes Generalised Progressive Retinal Atrophy In The Cardigan Welsh Corgi. 1998; Invest.Ophthalmol.Vis.Sci. 39: S880
Goto Top
- Petersen-Jones,S.M., Entz,D.D., and Sargan,D.R. cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog. 1999; Invest.Ophthalmol.Vis.Sci. 40: 1637-1644.
Link to PubMed
Goto Top
- Semple Rowland,S.L., Lee,N.R., van Hooser,J.P., Palczewski,K., and Baehr,W. A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype. 1998; Proc.Natl.Acad.Sci.U.S.A. 95: 1271-1276.
Link to PubMed
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- Suber,M.L., Pittler,S.J., Qin,N., Wright,G.C., Holcombe,V., Lee,R.H., Craft,C.M., Lolley,R.N., Baehr,W., and Hurwitz,R.L. Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. 1993; Proc.Natl.Acad.Sci.U.S.A. 90: 3968-3972.
Link to PubMed
Goto Top
- Veske,A., Nilsson,S.E., Narfstrom,K., and Gal,A. Retinal dystrophy of Swedish Briard/Briard-beagle dogs is due to a 4-bp deletion in RPE65. 1999; Genomics. 57: 57-61.
Link to PubMed
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- Wang,W., Zhang,Q., Acland,G.M., Mellersh,C., Ostrander,E.A., Ray,K., and Aguirre,G.D. Molecular characterization and mapping of canine cGMP- phosphodiesterase delta subunit (PDE6D). 1999; Gene. 236: 325-332.
Link to PubMed
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- Wrigstad,A., Narfstrom,K., and Nilsson,S.E. Slowly progressive changes of the retina and retinal pigment epithelium in Briard dogs with hereditary retinal dystrophy. A morphological study. 1994; Doc.Ophthalmol. 87: 337-354.
Link to PubMed
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- Wrigstad,A., Nilsson,S.E., and Narfstrom,K. Ultrastructural changes of the retina and the retinal pigment epithelium in Briard dogs with hereditary congenital night blindness and partial day blindness. 1992; Exp.Eye Res. 55: 805-818.
Link to PubMed
Goto Top
- Zeiss,C.J., Ray,K., Acland,G.M., and Aguirre,G.D. Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3). 2000; Hum.Mol.Genet. 9: 531-537.
Link to PubMed
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- Zhang,Q., Acland,G.M., Parshall,C.J., Haskell,J., Ray,K., and Aguirre,G.D. Characterization of canine photoreceptor phosducin cDNA and identification of a sequence variant in dogs with photoreceptor dysplasia. 1998; Gene. 215: 231-239.
Link to PubMed
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