Race:

Inheritance: ar

Assignment: 8

Gene:

Online Reference:

Race:

Inheritance: ar

Assignment: 8

Gene:

Online Reference:

Race:

Inheritance: ar

Assignment: 1

Gene:

Online Reference:

Race:

Inheritance: ar

Assignment: 5

Gene: pdeb

• 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

Online Reference:

Race:

Inheritance: ar

Assignment: 17 near H-2

Gene: rds

• Homozygotes fail to elaborate OS
• Degeneration begins by 3 week postnatal and completes after 3 months
• Heterozygotes show swollen discs and reduced OS length

Online Reference:

Race:

Inheritance: ad

Assignment:

Gene: Pax6

• +/-:
  • Iris hypoplasia
• -/-:
  • Lack of eyes and nasal cavity
  • Brain abnormalities
• w/w:
  • developmental abnormalities of the eye
  • 5 different phenotypes

Online Reference:

Race:

Inheritance: ar

Assignment:

Gene: MyoVIIa

• 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

• Reduced rate of disc synthesis but no effect on disc length
• Opsin accumulates abnormally in the connecting cilium

• 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

• 9 known mutations

Online Reference:

Race: 77-2C2a-special-rd7/rd7, C57BL/6J, B₆.Cg-rd7/rd7, CAST/Ei

Inheritance: ar

Assignment: D9Mit4-D9Mit72-D9Mit207-D9Mit194-rd7-D9Mit174-D9Mit232-D9Mit163-D9Mit259-D9Mit11

Gene: mPNR

• 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

• 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

• ERG normal for 4 month, than stable decrease of responses
• Reduction of rod and cone signals
• Loss of 50% amplitude size at 16 m

Online Reference:

Race: BALB/cBy x C57BL/6J

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:

• CSNB2 excluded
• CSNB1 possibly = nob

Online Reference:

Race: BALB/cGr-nr/nr

Inheritance: xl rezessive

Assignment: X

Gene:

• Nonprogressive
• Equals in all respects the retina of non-affected littermates

• 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

Online Reference:

Race: NFS/N, C58/J

Inheritance: ar

Assignment: 1 proximal near D1Mit1

Gene: mG145

Online Reference:

Race: (BALB/c x Tyr^c) x lacZ-transgene

Inheritance: ar

Assignment: 7/X

Gene: Tyr

• melanine producing cells at:
  • choroid
  • optic stalk
  • RPE
• Choroidal melanine bearing cells develop after the optic chiasm has developed

• No relationship between:
  • pigment levels in choroid and the axon decussation pattern
  • axon position in the optic stalk relative to the pigmented cellsand the growth of the axon at the optic chiasma

• Crossed and uncrossed RGC express lacZ transgene at equal amounts
  => albino-mutation affects cell routing in an cell-extrensic manner
• Albino mutation acts indirectly on RGC

Online Reference:

Race:

Inheritance:

Assignment:

Gene:

Online Reference:

Race:

Inheritance:

Assignment: 17

Gene: rds

• OS disorganization
• Photoreceptor degeneration
• Relatively preserved cones

• Decrease in Rmp3 of ERG by 3 weeks of age
• Further parameters stay unaffected

Online Reference:

Race:

Inheritance:

Assignment: 17

Gene: rds

• Mildly dysplastic POS

Online Reference:

Race:

Inheritance: ad

Assignment: 6 distal

Gene: Rho

No effect on decline of amplitudes

• Vit A supplement of 2.5 and 102.5 mg as palmitate per kg of diet

Online Reference:

Race:

Inheritance: ad

Assignment: 6 distal

Gene: Rho

Reduced decline of a-wave and b-wave amplitudes

• Vit A supplement of 2.5 and 102.5 mg as palmitate per kg of diet

Online Reference:

Race:

Inheritance: ad

Assignment: 6

Gene: Rho

• Progressive shortening of ROS never being of normal age-match size
• Age-related decline of responses was paralleled by loss of rho density
• OS are formed at equivalent times
• OS are 50% of WT lengths
• Pyknotic nuclei

• Slow progressive degeneration of rods and cones

• Reduction in rod mediated response at 1 month
• Normal cone-mediated ERGs up to 5 months
• Rods do not recover after pre-bleach within 2 h
• Cone dysfunction subsequent to rod degeneration
• Results fit to equivalent light hypothesis

• No differences in chromophore binding and photic sensitivity
• Rho is translated and incorporated as usual
• Mutant and WT Rho seem to be present in ROS
• IR shows normal pattern and enhanced activity with anti-VPP Ab

• Abnormalities in dics membrane organization and synthesis

Online Reference:

Race:

Inheritance: ar

Assignment: 19 proximal

Gene: rom1

• Photoreceptors die by apoptosis
• Death rate greater in young mice during first 6 months
• By 18 months 40% of photoreceptors have died
• Disorders OS after 1 month

Online Reference:

Race:

Inheritance: digenic

Assignment: 17/19

Gene: rds/rom1

• No retinal degeneration of (rds L185P) on (rds +/+, rom1 +/-) or (rds+/-. rom1+/+) background
• Slow progressive degeneration and significant OS dysplasia of (rds185P) on rom1-/- background

Online Reference:

Race:

Inheritance: ar

Assignment:

Gene: Cln3

• Progressive storage of autofluorescent lipopigments
• Full fertility

Online Reference:

Race:

Inheritance:

Assignment:

Gene: dlx-2

• Abnormal development of the forebrain
• Morphogenesis of the skeletal elements from first and second visceral arches was disturbed
• Homeobox expression pattern correlated with dlx-2 was not disturbed

Online Reference:

Race:

Inheritance: ar

Assignment:

Gene: emx

• Lack of discrete parts of the forebrain

Online Reference:

Race:

Inheritance:

Assignment:

Gene: GC-E

• Loss of cone cells

• Substantial reduction of cone ERG
• ERG of knockout different from LCA patients

Online Reference:

Race:

Inheritance:

Assignment:

Gene: Gnat1

• No morphological changes

• Homozygous cells do not produce a response
• No clear indication of responding cells by coulour tests

Online Reference:

Race:

Inheritance:

Assignment:

Gene: IRBP

• Short OS
• Since P11
  • Loss of photoreceptor nuclei
  • Structural integrity of POS
• Slow progressive degeneration

• Reduced ERGs
• Marked loss in photic sensitivity by P30

Online Reference:

Race:

Inheritance: xl

Assignment: X

Gene: Ndg

• Fundus morphology equals wildtype in carrier
• Snowflake like vitreal changes in hemizygous
• Retinoschisis
• RPE irregularities in hemi and homozygotes
• Vitreous showed fibrouzs tissue at slit lamp examination
• Predominantly in GCL

• ERG normal in carriers
• In hemizygous severe loss of ERG b-wave
• negatively shaped scotopic ERG
• a-wave normal at low intensities
• Moderate amplitude loss at brighter flashes

Online Reference:

Race:

Inheritance: xl

Assignment: X

Gene: Ndg

• Severely atrophy spinal ganglion cells
• Atrophy and loss of ganglion cells in the cochlea primarily in the basal turn

Online Reference:

Race:

Inheritance: xl

Assignment: X

Gene: Ndg

• Increased number of blood vessels in the interface of GCL and NFL
• Decrease in IPL and OPL after P9
• Fenestrated vessels occasionally penetrate the ILM
• Disorganization and loss of cells in the GCL

Online Reference:

Race:

Inheritance: ar

Assignment:

Gene: Otx1

• -/-:
  • reduction of cerebral cortex
  • absence of sulcus rhinalis
  • shrunken hippocampus
  • enlarged inferior & superior colliculi of mesencephalon
  • absence of lacrimal and harderian gland
  • transient dwarfism and hypogonadism

Online Reference:

Race:

Inheritance: ar

Assignment:

Gene: Otx2

• -/-:
  • lethal
  • embryos die early during embryogenesis
  • lack of anterior neuroectoderm
  • major abnormalities in the body plan
  • headless phenotype

Online Reference:

Race:

Inheritance:

Assignment:

Gene: Prkcg

• Mild deficits in spatial and contextual learning

Online Reference:

Race:

Inheritance: ar

Assignment:

Gene: Rgr

• Development of -/- appears normal
• No apparemt degeneration up to 9 months under cyclic house lighting

• Constant illumination at 900 lux for 4h
• -/- stimulkus response histogram is significant lower
• Scotopic ERG response consistent with lower rod sensitivity
• No difference in baseline ERG after dark adaptation

• RGR amount in +/- equals +/+ and is absent in -/-
• ~96% of RAl is 11cRAl in dark-adapted
• After 4000 lux /8h significant lower amonuts of 11cRAl in -/- with reduced amount of 11cRAl
• atRAl does not accumulate atRy overaccumulates in -/-

• Data obtained on free moving mice

Online Reference:

Race:

Inheritance:

Assignment:

Gene: Rho

• Loss of OS in homozygous animal
• Disk moprphology is disturbed
• Reduced size of pineal

• Model for pure cone function

Online Reference:

Race:

Inheritance:

Assignment:

Gene: RmP

• 4.0 kb deletion results in no abnormal histology

• Dark adaptation is normal

Online Reference:

Race:

Inheritance: ar

Assignment: distal 3

Gene: Rpe65

• Histological differences to normal from 7th weeks of age on
• By 15 weeks thinning of OS layer
• RPE shows no major differences
• Overaccumulation of all-trans-retinyl esters in droplets
• +/+ and +/- mice share the same phenotype

• -/- shows diminished b-wave
• slow phot. Regeneration
• Heterozygotes show standard ERG
• In 9cRol fed mice: ERG shave larger amplitude and higher sensitivity

• Do not form 11cis-retinoids but Ry
• 1000fold higher Ry concentration compared to +/+
• Isomerization step is affected in -/-
• No significant accumulation of 11cRol
• Oxidation of 11cRAl not affected

• Administration of 9cRol
• AP-1 is not activated in the absence of Rho
• Completely protected against light induced apoptosis
• atRAl is reduced and esterified
• 9cRAl recovers with time

Online Reference:

Race:

Inheritance: ar

Assignment:

Gene: Rpe65 / Cnga3

• Similiar ERGs were obtained from Rpe and Rpe/Cnga3 knockouts

• Model rules out cone involvement in Rpe65 deficient mice

Online Reference:

Race:

Inheritance: ar

Assignment:

Gene: Rpe65 / Rho

• Rho knockout ERGs do not match RPE65 knockout ERGs
• No response over the range of intensities tested

• Model supports rod involvement in Rpe65 deficient mice

Online Reference:

Race:

Inheritance:

Assignment:

Gene: Sag

• Cells are alive

• Very slow recovery of rod responses
• Cone responses are more or less normal

Online Reference:

Race:

Inheritance:

Assignment:

Gene: mi, Mitf

• 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

• Pigmentation defects

• Perturbation of retinoid metabolism
• Increased levels of ADH2 and RA in the neural retina

• Neural retina has not folded in on itself
• RPE remains immature
• Neural retina continues to develop
• Disrupted tissue compartimentalization is disrupted

Online Reference:

Race:

Inheritance: ar

Assignment:

Gene: Sag

• Photoreceptor loss:
  • Cyclic light: severe progressive after 100d (<50% survive after 1y)
  • Constant dark: indistinguishable form normals
  • Constant light: 30% loss after 1w and 60% after 3w

• Light induced damage suggests that patients with sag mutations are at higher risk of damaging effects by light

Online Reference:

Race:

Inheritance:

Assignment:

Gene: Rbp

• RBP is synthesized from 7 d.p.c. on

• Markedly reduced retinal function through first months of life

• Reduced blood Rol levels
• With Vit A sufficient diet mice acquire normal visual function within 5 months
• Can acquire hepatic Rol stores that cannot be mobilized
• Vit A status depends on regular intake
• Normal ciculating RA levels

• Mice were viable and fertile
• TTR deficient mice have low circulating Rol levels
• Rbp acts due to the absent TTR-Rbp complex and not by the reduced serum Rol level

Online Reference:

Race:

Inheritance: ar

Assignment:

Gene: tulp1^-/-

• tulp1 is exclusively located in PIS
• Degeneration early involves rods and cones
• Opsins but not rds/peripherin show ectopic localization
• Massive accumulation of extracellular vesicles surrounding the distal IS

• Defect associated with loss of polarized transport of nascent opsins

Online Reference:

Race:

Inheritance: ar

Assignment:

Gene: MyoVI

Online Reference:

Race:

Inheritance: xl

Assignment: X

Gene: Xlrs1

Online Reference:

Race:

C57BL/6J-P/P
• p^un
• p^6H
• p^cp
• p^bs
• p^J

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

• 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

• Small unpigmented melanosomes in the folicular melanocytes of un/un

• Diminished tyrosinase levels of newborns
• Addition of tyrosine enhances melanine production
• No dominant negative effect of p^un

• 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)

Online Reference:

Race: B6C3xC3H; B6CBA/J; CSJL/J

Inheritance: ar

Assignment:

Gene: Pdeb

• rd/- mice produce
  • 1:1 mutant pre-mRNA: wt pre-mRNA
  • 1:3 mutant mRNA: wt mRNA
• Transcription of mutant and wt is similar but mutant transcript undergoes selective degredation during or after splicing

Online Reference:

Race: Balb/C

Inheritance: ar

Assignment:

Gene: Pcdh15

• No retinal phenotype
• Disorganized outer hair cell stereocilia

• Normal endocochlear potential

Online Reference:

Race: Balb/C

Inheritance: ad

Assignment:

Gene: rds/peripherin

• 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

• 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

Online Reference:

Race: C3HfB/GaCas1^b

Inheritance: ar

Assignment: D9Mit2, D9Mit54, D9Mit171, D9Mit191, D9Mit197, D9Mit227, D9Mit247, D9Mit286

Gene:

• 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

• Slow progressive retinal dysfunction of rods and cones over 70 w
• Dysfunction starts 1 m

• Human homologue may be on 11q23

Online Reference:

Race: C57BL/6

Inheritance: ad

Assignment:

Gene: Crx

• No POS
• No difference at P10
• At P14 and P21 OS were present only in +/- not in -/-
• Only thin ONL in -/- at P21
• Only shortend OS in +/- at P14
• +/- OS equal +/+ OS at P21

• No gross morphological abnormalities in -/- and +/- animals
• -/- and +/- are fertile and viable
• Circadian entrainment was affected

• Reduced expression of several photoreceptor- and pineal-specific genes

Online Reference:

Race: C57Bl/6

Inheritance:

Assignment:

Gene: Rlbp1

• Number of nuclei in ONL is higher than in WT albinos indicating a protective effect

• No evidence for photoreceptor degeneration in animals raised in light/dark cycle for 1y.

• Normal photosensivity
• Delayed dark adaptation
• Restoration of Rho after 80% bleach within 18-24h compared to ~1.5 h in WT and heterozygous knock-outs

• >10 fold delayed
  • Rho regeneration
  • 11cRAl production
• Accumulation of Ry possibly due to impaired isomerisation of atRol to 11cRol
• Identical amount of Rho in Rlbp1 knock-out and WT

• Supports involvement of CRAlBP in as an 11cRol acceptor in isomerisation

Online Reference:

Race: C57Bl/6, CAST/Ei, V/Le

Inheritance: ar

Assignment: 10

Gene: Cdh23

• 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

• 11 Amino acid variations
• 6 Mutations

Online Reference:

Race: C57BL/6; C3H/He

Inheritance: ar

Assignment:

Gene: Pdeb

• 10-20% more cones surviving after 7 days of co-culture with dissociated cells from postnatal and adult retinas

Online Reference:

Race: C57BL/6J

Inheritance: ar

Assignment:

Gene: Tulp1

• Shortening of OS and IS by 2 w
• Greatly reduced thickness of ONL by 4 w
• ONL reduced to 1-2 rows at 12 w
• Loss of ONL by 20 w in some regions
• OS fragmented and distorted
• Fragmented IS with isolated PM bound vesicles

• Early onset retinal degeneration
• No obesity
• Rapid loss of photoreceptors
• Similar to P347S mice

• Reduced a- and b-wave from earliest time of testing (19 d) on
• Consistent with hypothesis: rod loss precedes cone loss
• Double heterozygotes (Tulp1/Tub) have normal ERG up to 6 m

• Ectopic accumulation of Rho at an early age
• Double knockouts (Tulp1/Tub) develop photorezeptors and express photorezeptor markers until 14d
• Thereafter fulminant degeneration
• Double heterozygotes are normal

• OPL collapsed by 6 m
• Vesicle accumulation is only transiently
• Not a failure of disc assembly or maintenance

Online Reference:

Race: C57BL/6J

Inheritance: xl

Assignment: X

Gene: Oa1

• First pigment at E11-11.5
• Absence of giant melanosomes from E11.5-17.5
• Dispersion of giant and normal sized melanosomes throughout the pigment epithelium of iris, ciliary body, and retina at P1
• At P7 majority of melanosomes were giant

• No differences to normal mice over the full range of intensities
• Retinal function is not impaired in OA1
• Increased lable in the contralateral than ispilateral part of the visual pathway
• Crossing is favored in the optic chiasm

Online Reference:

Race: C57BL/6J

Inheritance:

Assignment:

Gene:

• First changes at P4-8
• In 3 w old mice most of the photoreceptors in the central retina have disappeared
• RPE enlarged with enlongated microvilli
• At 8 w complete loss of photoreceptors
• At 20 m 5-10% of choriocapillaris lost

Online Reference:

Race: C57BL/6J

Inheritance: ar

Assignment: cen 7

Gene: tub

• IR correlates with onset of neuronal differentiation

• Obesity
• Diabetes
• Sensory deficits
• Retinal degeneration
• Neurosensory hearing loss
• Reminiscent of fat/fat mouse
• slower obesity development compared to ob/ob and db/db

• ERG extinguished at by 6 m

• 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

Online Reference:

Race: C57BL/6J;ST/bJ;WB/ReJ-W;PL/J;SWR/J;SJR/J;BDP/J

Inheritance: ar

Assignment: 5

Gene: Pdeb

• Complete loss of rods by P20
• Cones survive much longer
• Other retinal cells remain intact
• Heterozygotes have histologically normal photoreceptors

• Abnormal ERGs

• High levels of cGMP in rd/rd
• Heterozygotes show a reduction of cGMP levels
• Altered PDE kinetics are observed
• Abnormal cGMP-binding

• Strains free of Y347X:
  • SM/J
  • AKR/J
  • DBA/2J
  • 129/Rr
  • I/LnJ
  • LP/J
  • NZB/BlnJ

Online Reference:

Race: C57BL/6J-tub/tub

Inheritance: ar

Assignment: chr 7 (Hbb-rd5-tub)

Gene:

• 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

• Initial ophthalmoscopic signs observed at 6 weeks
• Arteriolar attenuation
• Venous dilatation
• Granular RPE
• Focal and diffuse loss of RPE
• Patches of pigment deposits

• ERG is never normal in rd5/rd5
• Poorly developed a-waves with reduced amplitudes
• Progressive amplitude loss
• ERG extinguished at 6 m

• Virtually deaf at 5-6 months
• From 3 w on elevated ABR thresholds

Online Reference:

Race: C57Bl/6J-c^2J, BALB/c

Inheritance:

Assignment: 3

Gene: Rpe65

• Very little photodamage in C57Bl/6J-c^2J after prolonged light exposure

• 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

• Primers for IVS3 of RPE65 and cDNA fragments

Online Reference:

Race: C57BL/6x129v

Inheritance:

Assignment:

Gene: c-fos

• Lower mean ERG-amplitudes
• Marked variability
• Prolonged latencies
• 0.9 log unit lower b-wave
• Electron absorbance is not depending on c-fos

• Slightly reduced SAG levels
• 25% lower RHO level
• Phenotype rather results from missing c-fos in apoptotic cascade than deficits in rod function

Online Reference:

Race: C57Bl6J/SJL

Inheritance: ad

Assignment: 17

Gene: Mrg4

• Changes depend on age
• Extensive vacuolation of the outer plexiform layer
• Debris containing vacuoles
• Distorted synapses
• Swollen dendrites

• Age and transgene expression dependent phenotype
• Range from normal to white dots and streaks, to multiple flecks, to outright degeneration
• Lesion start at the superior temporal region

• Reduced b-wave
• c/b-wave ration is higher in the transgenics
• Result is consistent with abnormalities in the synaptic transmission from photoreceptors to secondary neurons

Online Reference:

Race: C57Bl6J/SJL

Inheritance: ar

Assignment: 15

Gene: Matp

• Small, crenated organelles in uw mice

• Autonomous to melanocytes
• Almost complete loss of pigmentation

• Possibly defective osmotic regulation

• No Matp in uw^dbr/uw^dbr mice

Online Reference:

Race: DBA/2J

Inheritance: ad

Assignment: 4

Gene:

• Reduction of retinal outer and plexiform layers at P10
• Loss after 6 weeks
• Retinal vessel attenuation
• pigment spots
• optic atrophy

• ERGs showed poorly after 3 - 6 weeks
• ERGs were barely detected after 6 weeks

• Excluded from RP1
• Encompasses nearly complete chromosome 4
• Homozygous lethal
• Locus near by or disrupted by breakpoint of inversion
• Breakpoints in 4A1 and 4E2 bands

Online Reference: