Gene Summary

Name:
zinc finger protein 329
Synonyms:
4632409L22Rik,  2810439M05Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal optic disk morphology Zfp329em1(IMPC)J HOM Early adult 4.24×10-05
abnormal retina morphology Zfp329em1(IMPC)J HOM   Early adult 6.80×10-06
mydriasis Zfp329em1(IMPC)J HOM Late adult 8.23×10-05
decreased grip strength Zfp329em1(IMPC)J HOM Early adult 5.26×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Zfp329 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zfp329 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Adie Pupil
Tonic pupil OMIM:103100
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinitis Pigmentosa 42
Cystoid macular edema, Rod-cone dystrophy, Perifoveal ring of hyperautofluorescence, Peripapillar... OMIM:612943
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Facial Spasm
Anisocoria OMIM:134300
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Optic Atrophy 2
Optic atrophy OMIM:311050
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Macular Degeneration, Age-Related, 13
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization OMIM:615439
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor OMIM:616389
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Uveal Melanoma
Mydriasis, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Iris melanoma ORPHA:39044
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Microcoria, Congenital
Miosis, Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Optic disc pallor OMIM:618511
Retinitis Pigmentosa 76
Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C... OMIM:617123
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Usher Syndrome, Type Iiib
Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy OMIM:614504
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Hypoplasia of the fovea OMIM:620086
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Intestinal Botulism
Mydriasis ORPHA:178481
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Optic Atrophy 14
Optic disc pallor OMIM:620550
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculo... OMIM:616170
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:614296
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Iatrogenic Botulism
Mydriasis ORPHA:254509
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of large periphe... OMIM:617087
Wound Botulism
Mydriasis ORPHA:178475
Inhalational Botulism
Mydriasis ORPHA:254504
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Retinal thinning, Optic disc pallor OMIM:618970
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Cone-Rod Dystrophy, X-Linked, 3
Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Absent foveal r... OMIM:300476
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:612572
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Coats Disease
Leukocoria OMIM:300216
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Chorioretinal dysplas... OMIM:251270
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Botulism
Mydriasis ORPHA:1267
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Foodborne Botulism
Mydriasis ORPHA:228371
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi... OMIM:204100
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:618195
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type
Optic atrophy OMIM:309555
Spinocerebellar Ataxia, Autosomal Recessive 29
Peripheral axonal neuropathy, Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Rod-cone dystrophy, Onion bulb formation, Segmental peripheral demyelination/remye... OMIM:311070
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
Miller Fisher Syndrome
Mydriasis, Anisocoria ORPHA:98919
Retinitis Pigmentosa 25
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess... OMIM:602772
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Retinal vascular tortuosity ORPHA:104
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Decreased number of peripheral myelin... OMIM:609260
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Merrf
Optic atrophy ORPHA:551
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615973
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613810
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Retinal vascular tortuosity OMIM:618768
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Serotonin Syndrome
Mydriasis ORPHA:43116
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy OMIM:204200
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology ORPHA:440727
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy OMIM:620312
Retinitis Pigmentosa 72
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy OMIM:620314
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy OMIM:620221
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Retinitis Pigmentosa 60
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:613983
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola... OMIM:600132
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Optic disc pallor ORPHA:98890
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Woolly Hair Nevus
Persistent pupillary membrane, Heterochromia iridis ORPHA:79414
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior cham... OMIM:221900
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Pituitary Apoplexy
Mydriasis ORPHA:95613
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy OMIM:619425
Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor OMIM:616732
Arachnoid Cyst
Mydriasis ORPHA:2356
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Osteopetrosis, Autosomal Recessive 5
Mydriasis OMIM:259720
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Retinal dystrophy ORPHA:1021
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Retrobulbar optic neuritis ORPHA:3151
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Abnormality of peripheral nerve conduction, P... ORPHA:280234
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:615233
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Chorioretinal coloboma ORPHA:1473
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:615434
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... ORPHA:364055
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria ORPHA:79138
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... ORPHA:98977
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials OMIM:616648
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Late-Onset Retinal Degeneration
Drusen, Choroidal neovascularization, Patchy atrophy of the retinal pigment epithelium, Macular d... ORPHA:67042
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Anis... ORPHA:263479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Cocaine Intoxication
Mydriasis ORPHA:90068
Phacoanaphylactic Uveitis
Abnormal corneal endothelium morphology, Hypopyon, Corneal stromal edema, Posterior uveitis, Ante... ORPHA:209959
Hec Syndrome
Developmental cataract, Abnormal pupil morphology ORPHA:2119
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy... OMIM:616959
Alexander Disease
Microcoria OMIM:203450
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... OMIM:106210
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Abnormal retinal ... ORPHA:1215
Scorpion Envenomation
Mydriasis, Miosis ORPHA:466677
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ... OMIM:602482
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... OMIM:609033
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy, Optic disc pallor OMIM:609541
Retinitis Pigmentosa 74
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor OMIM:616562
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle... ORPHA:448237
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Aniridia, Microcornea, Megalocornea, Hypoplasia of the iris, Posterior embryotoxon, Ri... OMIM:180500
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibe... ORPHA:320406
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Aniridia 2
Optic atrophy OMIM:617141
Wildervanck Syndrome
Facial palsy, Pseudopapilledema ORPHA:3456
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:268315
Madras Motor Neuron Disease
Optic atrophy, Facial palsy ORPHA:137867
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Retinal degeneration OMIM:616896
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Facial palsy, Optic disc pallor OMIM:611490
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abn... ORPHA:791
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy OMIM:615085
Proteus-Like Syndrome
Cataract, Limbal dermoid, Heterochromia iridis, Abnormal pupil morphology ORPHA:2969
Plague
Conjunctival hyperemia, Mydriasis ORPHA:707
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy OMIM:300578
Leber Congenital Amaurosis 15
Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat... OMIM:613843
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Optic atrophy, Optic neuropathy, Axonal degeneration OMIM:616811
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Abnormal pupil morphology, Tonic pupil, Slow pupillary light response ORPHA:90658
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Congenital Fibrosis Of Extraocular Muscles
Anisocoria, Miosis, Cataract, Abnormal pupil shape, Slow pupillary light response ORPHA:45358
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Corneal erosion ORPHA:1764
Alagille Syndrome
Keratoconus, Corneal dystrophy, Abnormal pupil morphology ORPHA:52
Duane Retraction Syndrome
Aniridia, Microcornea, Hypoplastic iris stroma, Chorioretinal coloboma, Central heterochromia, Ab... ORPHA:233
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Optic disc pallor, Optic neuropathy OMIM:618249
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Sclerocornea, Ectopia pupillae OMIM:615877
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Joubert Syndrome 8
Pigmentary retinopathy, Optic disc pallor OMIM:612291
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane OMIM:257850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Peters anomaly, Persistent pupillary membrane OMIM:613150
Nephronophthisis 11
Anisocoria OMIM:613550
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of the iris, Rieger ... OMIM:609049
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased nerve conduction velocity, Rod-cone dystrophy, Retinal dystrophy OMIM:614863
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Papilledema, Macul... ORPHA:79098
Knobloch Syndrome 1
Iris transillumination defect, Band keratopathy, Chorioretinal atrophy, Persistent pupillary memb... OMIM:267750
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology OMIM:617516
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Trichinellosis
Conjunctival hyperemia, Abnormal uvea morphology, Anisocoria, Conjunctivitis ORPHA:863
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Hyperoxaluria, Primary, Type I
Optic atrophy, Choroidal neovascularization, Optic neuropathy, Retinopathy, Retinal crystals OMIM:259900
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Abnormal optic disc morphology ORPHA:363417
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Abnormal optic disc morphology ORPHA:293967
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Cataract, Buphthalmos, Chorioretinal dysplasia, Abnormal pupil morphology, Lenti... ORPHA:534
Charcot-Marie-Tooth Disease Type 4C
Abnormal pupillary light reflex, Anisocoria ORPHA:99949
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria OMIM:615510
Revesz Syndrome
Megalocornea, Leukocoria OMIM:268130
Norrie Disease
Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of... ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Hypoplasia of t... OMIM:175780
Retinoblastoma
Heterochromia iridis, Uveitis, Hypopyon, Leukocoria ORPHA:790
Cancer-Associated Retinopathy
Optic atrophy, Granular macular appearance, Retinal atrophy, Optic disc pallor, Retinal pigment e... ORPHA:71505
Scalp-Ear-Nipple Syndrome
Cataract, Iris coloboma, Developmental cataract, Anisocoria OMIM:181270
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Retinoblastoma
Leukocoria OMIM:180200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Subretinal deposits, Retinal dystrophy, Abnormal optic disc morphology ORPHA:397715
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria OMIM:618653
Superficial Siderosis
Anisocoria ORPHA:247245
Cutis Marmorata Telangiectatica Congenita
Leukocoria ORPHA:1556
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Retinal coloboma, Abnormal optic disc morphology ORPHA:508498
Wolf-Hirschhorn Syndrome
Rieger anomaly, Ectopia pupillae, Iris coloboma OMIM:194190
7Q11.23 Microduplication Syndrome
Abnormal optic disc morphology ORPHA:96121
Mowat-Wilson Syndrome
Microcornea, Chorioretinal coloboma, Ectopia pupillae, Cataract, Iris coloboma OMIM:235730
Witteveen-Kolk Syndrome
Cataract, Iris coloboma, Anisocoria OMIM:613406
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Astigmatism, Microcornea, Axenfeld anomaly, Iris atrophy, Ectopia pupillae, Cataract, Abnormal pu... ORPHA:261552
Sponastrime Dysplasia
Cataract, Congenital aphakia, Microcoria ORPHA:93357
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Zfp329

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zfp329.

No publications found that use IMPC mice or data for Zfp329.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Zfp329tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Zfp329tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zfp329em1(IMPC)J Indel Mice

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