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Gene: Zfp930 MGI:2675306

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Gene Summary

Name:
zinc finger protein 930
Synonyms:
zinc finger protein,  D10627

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 eye anterior chamber depth Zfp930tm1b(KOMP)Wtsi HOM Early adult 5.12×10-05
abnormal optic disk morphology Zfp930tm1b(KOMP)Wtsi HOM Early adult 5.59×10-05
persistence of hyaloid vascular system Zfp930tm1b(KOMP)Wtsi HOM Early adult 1.29×10-05

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of right eye

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Wholemount

2 Images

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Eye Morphology

VIP of left eye

16 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Human diseases caused by Zfp930 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 Zfp930 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinitis Pigmentosa 42
Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu... OMIM:612943
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Optic Atrophy 2
Optic atrophy OMIM:311050
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
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Increased cup-to-disc ratio, Megalocornea OMIM:617272
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V... OMIM:143200
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy, Iris cyst OMIM:620086
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Optic disc pallor OMIM:618511
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... ORPHA:179
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Leber Congenital Amaurosis 4
Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti... OMIM:604393
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Bone spicule pigmentation of th... OMIM:611040
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Peripapillary atrophy, Astigmatism, Retinal dots, Retinal d... OMIM:616188
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Subcapsular catara... OMIM:600059
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Usher Syndrome, Type Iiib
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy OMIM:614504
Optic Atrophy 14
Optic disc pallor OMIM:620550
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Microphthalmia/Coloboma 12
Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Optic atrophy, P... OMIM:617087
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Astigmatism, Cone/cone-rod dystrophy, Retinal detachment, Op... OMIM:300476
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... OMIM:180105
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dy... OMIM:251270
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... OMIM:602772
Leber Congenital Amaurosis 9
Keratoconus, Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood ves... OMIM:608553
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Tractional retinal detachment, Epir... ORPHA:891
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... OMIM:616170
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract, Pigmentary retinopathy, Attenuation of retinal ... OMIM:613581
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
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
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Optic atrophy, Retinopathy, Macular atrophy, Optic disc pallor OMIM:616171
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Retinitis Pigmentosa 43
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bon... OMIM:613810
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone... OMIM:616469
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the... OMIM:600132
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decre... OMIM:609260
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Rod-cone d... OMIM:311070
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy OMIM:204200
Merrf
Optic atrophy ORPHA:551
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia ORPHA:104
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy, Sensory axonal neuropathy ORPHA:329314
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi... OMIM:613983
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy OMIM:620221
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy OMIM:620314
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Tractional retinal detachme... ORPHA:91495
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Optic disc coloboma, Chorioretinal coloboma, Macular atrophy, Flat cornea, Iris colo... OMIM:602499
Juvenile Glaucoma
Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art... ORPHA:98977
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Eales Disease
Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis... ORPHA:40923
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy OMIM:619425
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Wildervanck Syndrome
Lens subluxation, Pseudopapilledema, Facial palsy ORPHA:3456
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat... ORPHA:263479
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity OMIM:252650
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Leukoc... OMIM:221900
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Retrobulbar optic neuritis ORPHA:3151
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Null Syndrome
Optic atrophy, Peripheral demyelination, Abnormality of peripheral nerve conduction, Decreased ne... ORPHA:280234
Norrie Disease
Cataract, Optic atrophy, Hypoplasia of the iris, Leukocoria, Retinal detachment, Corneal opacity,... OMIM:310600
Congenital Hydrocephalus
Macular hypoplasia, Optic atrophy, Iris coloboma ORPHA:2185
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... ORPHA:364055
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials OMIM:616648
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Optic atrophy, Decreased nerve conduction velocity, Subcapsular cataract, Rod-cone dyst... OMIM:612674
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Optic disc pallor ORPHA:3173
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Retinal detachment, Anter... ORPHA:83461
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio... OMIM:152950
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
X-Linked Intellectual Disability, Najm Type
Cataract, Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia ORPHA:163937
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy ORPHA:1021
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Epiretinal me... ORPHA:67042
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor, Astigmatism OMIM:619328
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Srd5A3-Cdg
Cataract, Optic atrophy, Optic disc hypoplasia, Coloboma, Rod-cone dystrophy ORPHA:324737
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Cataract, Pigmentary retinopathy, Peripheral demyelination, Attenuation of retinal... OMIM:609033
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract, Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ... OMIM:268315
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Optic disc pallor OMIM:613730
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Attenuation of r... OMIM:300578
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Motor axonal neuropathy, Abnormal retinal nerve fiber layer morphology, Absent bra... ORPHA:1215
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy OMIM:609541
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... ORPHA:320406
Retinitis Pigmentosa
Optic atrophy, Keratoconus, Posterior subcapsular cataract, Attenuation of retinal blood vessels,... ORPHA:791
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Optic disc pallor, Facial palsy OMIM:611490
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior synechiae of the anterior chamber, Optic disc pallor, Band keratopathy, Hypoplasia of th... OMIM:614195
Leber Congenital Amaurosis 15
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Per... OMIM:613843
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysplasia, Optic n... OMIM:614643
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Abnormal optic nerve morphology, Peripheral schwannoma, Bilateral... ORPHA:637
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Optic neuropathy, Retinopathy, Axonal degeneration OMIM:616811
Sympathetic Ophthalmia
Cataract, Macular edema, Posterior synechiae of the anterior chamber, Corneal keratic precipitate... ORPHA:79098
Sturge-Weber Syndrome
Optic atrophy, Abnormal choroid morphology, Heterochromia iridis, Conjunctival telangiectasia, Ab... ORPHA:3205
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Optic disc pallor, Optic neuropathy OMIM:618249
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Cataract, Microcornea, Iris coloboma, Septo-optic dysplasia ORPHA:3301
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Motor axonal neuropathy, Orthostatic hypotension, Abnormal autonomic nervous syste... OMIM:231550
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Hermansky-Pudlak Syndrome 8
Myopic astigmatism, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Blue irides, Iris tran... OMIM:614077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Developmental... OMIM:613154
Xeroderma Pigmentosum, Complementation Group B
Cataract, Pigmentary retinopathy, Optic atrophy, Decreased nerve conduction velocity OMIM:610651
Phace Association
Optic atrophy, Increased retinal vascularity, Horner syndrome, Developmental cataract, Optic nerv... OMIM:606519
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy, Abnormal lens morphology ORPHA:363417
Norrie Disease
Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Abnor... ORPHA:649
Atelis Syndrome 2
Vitreous hemorrhage, Developmental cataract, Remnants of the hyaloid vascular system OMIM:620185
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Abnormal optic disc morphology, Congenital stationary night blindness, Decreased corneal thickness ORPHA:293967
Knobloch Syndrome 1
Band keratopathy, Vitreoretinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy,... OMIM:267750
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology OMIM:617516
Bardet-Biedl Syndrome 20
Rod-cone dystrophy, Papilledema, Astigmatism, Retinal vascular tortuosity OMIM:619471
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Posterior subcapsular cataract, Optic atrophy, Cerulean cataract, Anterior cortical cat... ORPHA:67036
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema, Developmental cataract OMIM:127000
Neuroocular Syndrome 1
Cataract, Microcornea, Hypoplasia of the fovea, Blue irides, Remnants of the hyaloid vascular sys... OMIM:619539
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Abnormal optic disc morphology, Coloboma, Facial palsy, Iris coloboma, Optic ne... ORPHA:508498
Microphthalmia, Syndromic 2
Microcornea, Retinal detachment, Developmental cataract, Remnants of the hyaloid vascular system,... OMIM:300166
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy ORPHA:397715
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Holoprosencephaly 2
Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170
7Q11.23 Microduplication Syndrome
Abnormal optic disc morphology, Astigmatism ORPHA:96121

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 Zfp930

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 Zfp930.

No publications found that use IMPC mice or data for Zfp930.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Zfp930tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Zfp930tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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