Retina International's Scientific Newsletter - Animal Model Database

	Retina International's Scientific Newsletter
	Animal Model Database Mus musculus

Recent update from: 11.11.2002

You are always welcome to give your comments.

Species: Mus musculus Race: Occurrence of the model: naturally	Disease: mnd (Motor Neuron Degeneration) Inheritance: ar Assignment: 8 Gene: Mutation(s):
Phenotype, morphological
Phenotype, clinic
Phenotype, electrophysiological
Phenotype, biochemical
Remarks
Human counterpart: Human disease:	Reference: Online Reference: Online Data:

Species: Mus musculus Race: Occurrence of the model: naturally	Disease: nr (Nervous) Inheritance: ar Assignment: 8 Gene: Mutation(s):
Phenotype, morphological
Phenotype, clinic
Phenotype, electrophysiological
Phenotype, biochemical
Remarks
Human counterpart: Human disease:	Reference: Online Reference: Online Data:

Species: Mus musculus Race: Occurrence of the model: naturally	Disease: pcd (Purkinje Cell Degeneration) Inheritance: ar Assignment: 1 Gene: Mutation(s):
Phenotype, morphological
Phenotype, clinic
Phenotype, electrophysiological
Phenotype, biochemical
Remarks
Human counterpart: Human disease:	Reference: Online Reference: Online Data:

Species: Mus musculus Race: Occurrence of the model: naturally	Disease: rd1 (Retinal Degeneration) Inheritance: ar Assignment: 5 Gene: pdeb Mutation(s): C347X, Xmv-28 proviral insert
Phenotype, morphological Swelling of mitochondria Vacuolar inclusions of RIS at P8 Disruption of ordered stack of OS discs Thinning of ONL Slower impact on cones After several month subtle changes in INL and IPL
Phenotype, clinic
Phenotype, electrophysiological
Phenotype, biochemical
Remarks
Human counterpart: PDEB Human disease: ARRP	Reference: (14) Online Reference: Online Data:

Species: Mus musculus Race: Occurrence of the model: naturally	Disease: rd2 (Retinal Degeneration Slow) Inheritance: ar Assignment: 17 near H-2 Gene: rds Mutation(s):
Phenotype, morphological Homozygotes fail to elaborate OS Degeneration begins by 3 week postnatal and completes after 3 months Heterozygotes show swollen discs and reduced OS length
Phenotype, clinic
Phenotype, electrophysiological
Phenotype, biochemical
Remarks
Human counterpart: Human disease:	Reference: (31) Online Reference: Online Data:

Species: Mus musculus Race: Occurrence of the model: naturally	Disease: sey (Small Eye) Inheritance: ad Assignment: Gene: Pax6 Mutation(s):
Phenotype, morphological +/-: Iris hypoplasia -/-: Lack of eyes and nasal cavity Brain abnormalities w/w: developmental abnormalities of the eye 5 different phenotypes
Phenotype, clinic
Phenotype, electrophysiological
Phenotype, biochemical
Remarks
Human counterpart: Human disease:	Reference: (28) Online Reference: Online Data:

Species: Mus musculus Race: Occurrence of the model: naturally	Disease: shaker-1 (sh1) Inheritance: ar Assignment: Gene: MyoVIIa Mutation(s): Arg 502 Pro
Phenotype, morphological Abberant distribution of pigment granules Delayed development of the organ of Corti Sensory hair cells degenerate immediately after birth No signs of retinal degeneration Melanosomes in RPE do not invade the apical process
Phenotype, clinic Reduced rate of disc synthesis but no effect on disc length Opsin accumulates abnormally in the connecting cilium
Phenotype, electrophysiological b-wave threshold of homozygous are mor or less equal to wt Reduced a- (20%) and b-wave amplitudes at max. light throughout life a-wave implicit times were the same in mutant and wt 2 mutants showed faster implicit times
Phenotype, biochemical
Remarks 9 known mutations
Human counterpart: MYOVIIA Human disease: USH1b	Reference: (20) (29) (19) Online Reference: Online Data:

Species: Mus musculus Race: 77-2C2a-special-rd7/rd7, C57BL/6J, B₆.Cg-rd7/rd7, CAST/Ei Occurrence of the model: naturally	Disease: rd7 (Retinal Dysplasia and Degeneration) Inheritance: ar Assignment: D9Mit4 -D9Mit72 -D9Mit207 -D9Mit194 -rd7 -D9Mit174 -D9Mit232 -D9Mit163 -D9Mit259 -D9Mit11 Gene: mPNR Mutation(s): Loss of 380 nt of the coding region
Phenotype, morphological rd7/rd7 normal fundus with waves in RPE/retina lineation rd7/BL6 springled fundus and severely waved RPE/retina lineation ONL waves, whorls, and rosettes at 1 m Waves flatten out by 5 m and disappeared by 16 m
Phenotype, clinic White spots over the entire retina 1 m Spots disappear with age Retinal degeneration at 12 m Mottled retinal pigment is observed at 16 m
Phenotype, electrophysiological ERG normal for 4 month, than stable decrease of responses Reduction of rod and cone signals Loss of 50% amplitude size at 16 m
Phenotype, biochemical
Remarks
Human counterpart: Enhanced S-cone syndrome Human disease: NR2E3	Reference: (8) (2) Online Reference: Online Data:

Species: Mus musculus Race: BALB/cBy x C57BL/6J Occurrence of the model: naturally	Disease: nob (no b-wave) Inheritance: xl rezessive Assignment: ter-[[[-DXMit55 -DXMit26 -DXMit161 -DXMit54 3.8 cM] -DXMit103 4.2 cM] -DXMit72 -Ube1x 5.7 cM] -DXMit125 -DXMit90 -DXMit81 -DXMit50 -DXMit140 -DXMit64 Gene: Mutation(s):
Phenotype, morphological
Phenotype, clinic
Phenotype, electrophysiological
Phenotype, biochemical
Remarks CSNB2 excluded CSNB1 possibly = nob
Human counterpart: Human disease: CSNB1	Reference: (6) Online Reference: Online Data:

Species: Mus musculus Race: BALB/cGr-nr/nr Occurrence of the model: naturally	Disease: nob (no b-wave) Inheritance: xl rezessive Assignment: X Gene: Mutation(s):
Phenotype, morphological Nonprogressive Equals in all respects the retina of non-affected littermates
Phenotype, clinic
Phenotype, electrophysiological Defect interferes with transmission of visual information through the retina Only at high intensities a small wavelet after the initial a-wave is seen ERG similiar like that after Glu agonist treatment VEPs gave no response
Phenotype, biochemical
Remarks
Human counterpart: Human disease: CSNB1	Reference: (24) Online Reference: Online Data:

Species: Mus musculus Race: NFS/N, C58/J Occurrence of the model: naturally	Disease: rd3 Inheritance: ar Assignment: 1 proximal near D1Mit1 Gene: mG145 Mutation(s):
Phenotype, morphological
Phenotype, clinic
Phenotype, electrophysiological
Phenotype, biochemical
Remarks
Human counterpart: RP1 Human disease: ADRP	Reference: (16) Online Reference: Online Data:

Species: Mus musculus (domesticus) Race: Occurrence of the model: naturally	Disease: Microphthalmia Inheritance: Assignment: Gene: mi, Mitf Mutation(s): 3bp deletion in the DNA-binding region
Phenotype, morphological Hyperplastic RPE migth represent ectopic retina Normal early retinal cell differentiation Abnormal RPE development After birth progressive disorganization of retina OS fail to elongate Significant photoreceptor loss
Phenotype, clinic Pigmentation defects
Phenotype, electrophysiological
Phenotype, biochemical Perturbation of retinoid metabolism Increased levels of ADH2 and RA in the neural retina
Remarks Neural retina has not folded in on itself RPE remains immature Neural retina continues to develop Disrupted tissue compartimentalization is disrupted
Human counterpart: Human disease: Microphthalmia	Reference: (5) (13) Online Reference: Online Data:

Species: Mus musculus (domesticus) Race: Occurrence of the model: naturally	Disease: Snell's Waltzer Inheritance: ar Assignment: Gene: MyoVI Mutation(s):
Phenotype, morphological
Phenotype, clinic
Phenotype, electrophysiological
Phenotype, biochemical
Remarks
Human counterpart: CDH23 Human disease:	Reference: (15) Online Reference: Online Data:

Species: Mus musculus (domesticus) Race: C57BL/6J-P/P p^un p^6H p^cp p^bs p^J Occurrence of the model: naturally	Disease: pink eyed dilution Inheritance: ar Assignment: Gene: p-gen Mutation(s): p^J: exon 20-23 del p^bs: promotor mutation ^un: tandem in-frame duplication ^bs/cp: null mutation
Phenotype, morphological un/un: drastic reduction of melanosome size and number 6H/cp: drastic reduction of melanosome size and number bs/J: modest diminuition in size and numbert of choroidal melanosomes smaller melanin granules in hair shafts
Phenotype, clinic Small unpigmented melanosomes in the folicular melanocytes of un/un
Phenotype, electrophysiological
Phenotype, biochemical Diminished tyrosinase levels of newborns Addition of tyrosine enhances melanine production No dominant negative effect of p^un
Remarks Control of melanin made in melanocytes and RPE P localizes at least in part to the melanosomes 12 TM protein, resembling a channel or transporter (tyrosine)
Human counterpart: P-Gen Human disease: OCA2	Reference: (23) Online Reference: Online Data:

Species: Mus musculus (domesticus) Race: Balb/C Occurrence of the model: naturally	Disease: Ames Waltzer (av) Inheritance: ar Assignment: Gene: Pcdh15 Mutation(s):
Phenotype, morphological No retinal phenotype Disorganized outer hair cell stereocilia
Phenotype, clinic
Phenotype, electrophysiological Normal endocochlear potential
Phenotype, biochemical
Remarks
Human counterpart: PCDH15 Human disease: USH1F	Reference: (3) (1) Online Reference: Online Data:

Species: Mus musculus (domesticus) Race: Balb/C Occurrence of the model: naturally	Disease: rds, Prph2^rd2/rd2 Inheritance: ad Assignment: Gene: rds/peripherin Mutation(s): null
Phenotype, morphological rd2/rd2: progressive loss of photoreceptors around P7 complete loss after 1 y maximal loss at 3 w and 4 w CNTF treated: significant increase of POS length redistribution and increase in content of Rho
Phenotype, clinic Onset ~2w after birth Age at treatment is critical for ultrstructural improvement
Phenotype, electrophysiological CNTF treated: significant increase in a- and b-wave of scotopic ERG
Phenotype, biochemical No significant decline in Rho promotor activity of transgene 14d delay of expression after injection
Remarks AV-mediated CNTF transfer AV injected into vitreous Checks at 4 d and 14 d p.i. CNTF-positive cells mainly in RPE centered around needle penetration rd/AAV construct induced OS which were lost over time
Human counterpart: Human disease:	Reference: (7) (27) (4) Online Reference: Online Data:

Species: Mus musculus (domesticus) Race: C3HfB/GaCas1^b Occurrence of the model: naturally	Disease: rd6 Inheritance: ar Assignment: D9Mit2, D9Mit54, D9Mit171, D9Mit191, D9Mit197, D9Mit227, D9Mit247, D9Mit286 Gene: Mutation(s):
Phenotype, morphological Progressive changes of retina and RPE Distal OS are mildly distorted by 1 m Abberant cells in the subretinal space increase and contain pigment granules Loss of cells in the ONL at 3 - 6 and 5 - 11 w By 15 m total loss of POS
Phenotype, clinic -/-: small white dots apparent at 8 w persist after 7 m but are more difficult to distinguish retinal degeneration starting at 7 m mildly pigmented granular and mottled fundus by 15 m vessels are pale and attenuated by 7 m
Phenotype, electrophysiological Slow progressive retinal dysfunction of rods and cones over 70 w Dysfunction starts 1 m
Phenotype, biochemical
Remarks Human homologue may be on 11q23
Human counterpart: Human disease: Retinitis punctata albescens	Reference: (17) Online Reference: Online Data:

Species: Mus musculus (domesticus) Race: C57Bl/6, CAST/Ei, V/Le Occurrence of the model: naturally	Disease: Waltzer (v) Inheritance: ar Assignment: 10 Gene: Cdh23 Mutation(s):
Phenotype, morphological Stereocilia disorganization occurs during early hair-cell differentiation At E18.5 apical hair cells are covered in microvilli OHC: Kinocilium was displaced, no stereocilia IHC: disorganized stereocilia
Phenotype, clinic
Phenotype, electrophysiological
Phenotype, biochemical
Remarks 11 Amino acid variations 6 Mutations
Human counterpart: CDH23 Human disease: USH1D	Reference: (12) (11) Online Reference: Online Data:

Species: Mus musculus (domesticus) Race: C57BL/6; C3H/He Occurrence of the model: naturally	Disease: rd Inheritance: ar Assignment: Gene: Pdeb Mutation(s):
Phenotype, morphological 10-20% more cones surviving after 7 days of co-culture with dissociated cells from postnatal and adult retinas
Phenotype, clinic
Phenotype, electrophysiological
Phenotype, biochemical
Remarks
Human counterpart: Human disease:	Reference: (21) Online Reference: Online Data:

Species: Mus musculus (domesticus) Race: C57BL/6J Occurrence of the model: naturally	Disease: rd5 (tubby) Inheritance: ar Assignment: cen 7 Gene: tub Mutation(s): Splice site
Phenotype, morphological IR correlates with onset of neuronal differentiation
Phenotype, clinic Obesity Diabetes Sensory deficits Retinal degeneration Neurosensory hearing loss Reminiscent of fat/fat mouse slower obesity development compared to ob/ob and db/db
Phenotype, electrophysiological ERG extinguished at by 6 m
Phenotype, biochemical
Remarks Expressed selectively in generating neurons in central and peripheral nervous system Expression starts at 9.5 d.p.c. In adult expression in cerebral cortex, hippocampus, feeding control nuclei of the hypothalamus, inner ear and photoreceptor
Human counterpart: TULP1 Human disease: ARRP	Reference: (9) (26) Online Reference: Online Data:

Species: Mus musculus (domesticus) Race: C57Bl/6J congenic le/le Occurrence of the model: naturally	Disease: light ear Inheritance: ar Assignment: 5 between D5Mit338 -D5Mit314 -D5Mit240 -D5Mit316 and D5Mit366 Gene: le Mutation(s): Q50X
Phenotype, morphological Reduced number of melanosomes in RPE Abberant and unevenly pigmented melanosomes with granular interior Macromelanosomes in choroid
Phenotype, clinic oculocutaneous albinism bleeding pulmonary fibrosis Defects of melanosomes platelet dense granules lysosoms
Phenotype, electrophysiological
Phenotype, biochemical
Remarks
Human counterpart: HPS4 Human disease: HPS4	Reference: (30) Online Reference: Online Data:

Species: Mus musculus (domesticus) Race: C57BL/6J;ST/bJ;WB/ReJ-W;PL/J;SWR/J;SJR/J;BDP/J Occurrence of the model: naturally	Disease: rd Inheritance: ar Assignment: 5 Gene: Pdeb Mutation(s): Y347X
Phenotype, morphological Complete loss of rods by P20 Cones survive much longer Other retinal cells remain intact Heterozygotes have histologically normal photoreceptors
Phenotype, clinic
Phenotype, electrophysiological Abnormal ERGs
Phenotype, biochemical High levels of cGMP in rd/rd Heterozygotes show a reduction of cGMP levels Altered PDE kinetics are observed Abnormal cGMP-binding
Remarks Strains free of Y347X: SM/J AKR/J DBA/2J 129/Rr I/LnJ LP/J NZB/BlnJ
Human counterpart: PDE6B Human disease: ARRP	Reference: (25) Online Reference: Online Data:

Species: Mus musculus (domesticus) Race: C57BL/6J-tub/tub Occurrence of the model: naturally	Disease: rd5 Inheritance: ar Assignment: chr 7 (Hbb-rd5-tub) Gene: Mutation(s):
Phenotype, morphological P1 to 3 w retinal layers are discernible From 3 w: shortening of OS loss of clear architecture of IS and OS 5 w PL and ONL were reduced 8 m complete loss of photoreceptors No normal organized OS at any time
Phenotype, clinic Initial ophthalmoscopic signs observed at 6 weeks Arteriolar attenuation Venous dilatation Granular RPE Focal and diffuse loss of RPE Patches of pigment deposits
Phenotype, electrophysiological ERG is never normal in rd5/rd5 Poorly developed a-waves with reduced amplitudes Progressive amplitude loss ERG extinguished at 6 m
Phenotype, biochemical
Remarks Virtually deaf at 5-6 months From 3 w on elevated ABR thresholds
Human counterpart: Human disease: USH1	Reference: (18) Online Reference: Online Data:

Species: Mus musculus (domesticus) Race: C57Bl/6J-c^2J, BALB/c Occurrence of the model: naturally	Disease: Mord1 Inheritance: Assignment: 3 Gene: Rpe65 Mutation(s): Met 450 Leu
Phenotype, morphological
Phenotype, clinic Very little photodamage in C57Bl/6J-c^2J after prolonged light exposure
Phenotype, electrophysiological
Phenotype, biochemical Enhanced suseptibility of damage under oxidizing conditions with M450 Reversible oxidization of M450 impairs RPE65 function Leu 450 cannot be oxidized therefore continue to recycle retinol thus protecting the retina
Remarks Primers for IVS3 of RPE65 and cDNA fragments
Human counterpart: RPE65 Human disease: EORD	Reference: (10) Online Reference: Online Data:

Species: Mus musculus (domesticus) Race: C57Bl6J/SJL Occurrence of the model: naturally	Disease: underwhite (uw) Inheritance: ar Assignment: 15 Gene: Matp Mutation(s): uw^d: S435P uw^dbr: D153N
Phenotype, morphological Small, crenated organelles in uw mice
Phenotype, clinic Autonomous to melanocytes Almost complete loss of pigmentation
Phenotype, electrophysiological
Phenotype, biochemical Possibly defective osmotic regulation
Remarks No Matp in uw^dbr/uw^dbr mice
Human counterpart: MATP Human disease: OCA4	Reference: (22) Online Reference: Online Data:

References

Ahmed,Z.M., Riazuddin,S., Bernstein,S.L., Ahmed,Z., Khan,S., Griffith,A.J., Morell,R.J., Friedman,T.B., Riazuddin,S., and Wilcox,E.R. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. 2001; Am.J.Hum Genet. 69: 25-34.
Link to PubMed
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Akhmedov,N.B., Piriev,N.I., Chang,B., Rapoport,A.L., Hawes,N.L., Nishina,P.M., Nusinowitz,S., Heckenlively,J.R., Roderick,T.H., Kozak,C.A., Danciger,M., Davisson,M.T., and Farber,D.B. A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. 2000; Proc.Natl.Acad.Sci.U.S.A. 97: 5551-5556.
Link to PubMed
Goto Top

Alagramam,K.N., Yuan,H., Kuehn,M.H., Murcia,C.L., Wayne,S., Srisailpathy,C.R., Lowry,R.B., Knaus,R., Van Laer,L., Bernier,F.P., Schwartz,S., Lee,C., Morton,C.C., Mullins,R.F., Ramesh,A., Van Camp,G., Hagemen,G.S., Woychik,R.P., and Smith,R.J. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. 2001; Hum.Mol.Genet. 10: 1709-1718.
Link to PubMed
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Ali,R.R., Sarra,G., Stephens,C., De Alwis,M., Bainbridge,J.B., Fauser,S., Reichel,M.B., Hunt,D.M., Bhattacharya,S.S., and Thrasher,A.J. Restoration Of Photoreceptor Outer Segments In Retinal Degeneration Slow (rds) Mice By Gene Therapy. 2000; Invest.Ophthalm.Vis.Sci. S542
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Bumsted,K.M. and Barnstable,C.J. Dorsal retinal pigment epithelium differentiates as neural retina in the microphthalmia (mi/mi) mouse. 2000; Invest.Ophthalmol.Vis.Sci. 41: 903-908.
Link to PubMed
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Candille,S.I., Pardue,M.T., Mccall,M.A., Peachey,N.S., and Gregg,R.G. Localization of the mouse nob (no b-wave) gene to the centromeric region of the X chromosome. 1999; Invest.Ophthalmol.Vis.Sci. 40: 2748-2751.
Link to PubMed
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Cayouette,M., Behn,D., Sendtner,M., Lachapelle,P., and Gravel,C. Intraocular gene transfer of ciliary neurotrophic factor prevents death and increases responsiveness of rod photoreceptors in the retinal degeneration slow mouse. 1998; J.Neurosci. 18: 9282-9293.
Link to PubMed
Goto Top

Chang,L., Ernst,T., Osborn,D., Seltzer,W., Leonido Yee,M., and Poland,R.E. Proton spectroscopy in myotonic dystrophy: correlations with CTG repeats. 1998; Arch.Neurol. 55: 305-311.
Link to PubMed
Goto Top

Chung,W.K., Goldberg Berman,J., Power Kehoe,L., and Leibel,R.L. Molecular mapping of the tubby (tub) mutation on mouse chromosome 7. 1996; Genomics. 32: 210-217.
Link to PubMed
Goto Top

Danciger,M., Matthes,M.T., Yasamura,D., Akhmedov,N.B., Rickabaugh,T., Gentleman,S., Redmond,T.M., La Vail,M.M., and Farber,D.B. A QTL on distal chromosome 3 that influences the severity of light-induced damage to mouse photoreceptors. 2000; Mamm.Genome. 11: 422-427.
Link to PubMed
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Di Palma,F., Holme,R.H., Bryda,E.C., Belyantseva,I.A., Pellegrino,R., Kachar,B., Steel,K.P., and Noben-Trauth,K. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. 2001; Nat.Genet. 27: 103-107.
Link to PubMed
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Duncan,T., Swint,C., Smith,S.B., and Wiggert,B.N. Levels of retinoic acid and retinaldehyde dehydrogenase expression in eyes of the Mitf-vit mouse model of retinal degeneration. 1999; Mol.Vis. 5:9: 9
Link to PubMed
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Farber,D.B. From mice to men: The cyclic GMP phosphodiesterase gene in vision and disease - The Proctor Lecture. 1995; Invest.Ophthalmol.Vis.Sci. 36: 263-275.
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Friedman,T.B., Sellers,J.R., and Avraham,K.B. Unconventional myosins and the genetics of hearing loss. 1999; Am.J.Med.Genet. 89: 147-157.
Link to PubMed
Goto Top

Guillonneau,X., Piriev,N.I., Danciger,M., Kozak,C.A., Cideciyan,A.V., Jacobson,S.G., and Farber,D.B. A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. 1999; Hum.Mol.Genet. 8: 1541-1546.
Link to PubMed
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Hawes,N.L., Chang,B., Hageman,G.S., Nusinowitz,S., Nishina,P.M., Schneider,B.S., Smith,R.S., Roderick,T.H., Davisson,M.T., and Heckenlively,J.R. Retinal degeneration 6 (rd6): A new mouse model for human retinitis punctata albescens. 2000; Invest Ophthalmol.Vis.Sci. 41: 3149-3157.
Link to PubMed
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Heckenlively,J.R., Chang,B., Erway,L.C., Peng,C., Hawes,N.L., Hageman,G.S., and Roderick,T.H. Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15. 1995; Proc.Natl.Acad.Sci.U.S.A. 92: 11100-11104.
Link to PubMed
Goto Top

Libby,R.T. and Steel,K.P. Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B. 2001; Invest Ophthalmol.Vis.Sci. 42: 770-778.
Link to PubMed
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Liu,X., Ondek,B., and Williams,D.S. Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice. 1998; Nat.Genet. 19: 117-118.
Link to PubMed
Goto Top

Mohand-Said,S., Deudon-Combe,A., Hicks,D., Simonutti,M., Forster,V., Fintz,A.C., Leveillard,T., Dreyfus,H., and Sahel,J.A. Normal retina releases a diffusible factor stimulating cone survival in the retinal degeneration mouse. 1998; Proc.Natl.Acad.Sci.U.S.A. 95: 8357-8362.
Link to PubMed
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Newton,J.M., Cohen-Barak,O., Hagiwara,N., Gardner,J.M., Davisson,M.T., King,R.A., and Brilliant,M.H. Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4. 2001; Am.J.Hum.Genet. 69: 981-988.
Link to PubMed
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Orlow,S.J. and Brilliant,M.H. The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye. 1999; Exp.Eye Res. 68: 147-154.
Link to PubMed
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Pardue,M.T., Mccall,M.A., LaVail,M.M., Gregg,R.G., and Peachey,N.S. A naturally occurring mouse model of X-linked congenital stationary night blindness. 1998; Invest.Ophthalmol.Vis.Sci. 39: 2443-2449.
Link to PubMed
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Pittler,S.J. and Baehr,W. Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse. 1991; Proc.Natl.Acad.Sci.U.S.A. 88: 8322-8326.
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Sahly,I., Gogat,K., Kobetz,A., Marchant,D., Menasche,M., Castel,M., Revah,F., Dufier,J., Guerre-Millo,M., and Abitbol,M.M. Prominent neuronal-specific tub gene expression in cellular targets of tubby mice mutation. 1998; Hum.Mol.Genet. 7: 1437-1447.
Link to PubMed
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Sarra,G.M., Stephens,C., De Alwis,M., Bainbridge,J.W., Smith,A.J., Thrasher,A.J., and Ali,R.R. Gene replacement therapy in the retinal degeneration slow (rds) mouse: the effect on retinal degeneration following partial transduction of the retina. 2001; Hum.Mol.Genet. 10: 2353-2361.
Link to PubMed
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Schedl,A., Ross,A., Lee,M., Engelkamp,D., Rashbass,P., van Heyningen,V., and Hastie,N.D. Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. 1996; Cell. 86: 71-82.
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Steel,K.P. and Bock,G.R. Hereditary inner-ear abnormalities in animals. Relationships with human abnormalities. 1983; Arch.Otolaryngol. 109: 22-29.
Link to PubMed
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Suzuki,T., Li,W., Zhang,Q., Karim,A., Novak,E.K., Sviderskaya,E.V., Hill,S.P., Bennett,D.C., Levin,A.V., Nieuwenhuis,H.K., Fong,C.T., Castellan,C., Miterski,B., Swank,R.T., and Spritz,R.A. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. 2002; Nat.Genet. .:
Link to PubMed
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Travis,G.H., Christerson,L., Danielson,P.E., Klisak,I., Sparkes,R.S., Hahn,L.B., Dryja,T.P., and Sutcliffe,J.G. The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. 1991; Genomics. 10: 733-739.
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Contact the editor		This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz