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Gene: Cep43 MGI:1922546

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Gene Summary

Name:
centrosomal protein 43
Synonyms:
4930553O10Rik,  Fop,  Fgfr1op

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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
increased circulating alkaline phosphatase level Cep43tm1b(EUCOMM)Hmgu HET Early adult 4.61×10-09
preweaning lethality, complete penetrance Cep43tm1b(EUCOMM)Hmgu HOM   Early adult 0.000317
abnormal retina vasculature morphology Cep43tm1b(EUCOMM)Hmgu HET Early adult 1.00×10-06
abnormal motor coordination/balance Cep43tm1b(EUCOMM)Hmgu HET   Early adult 2.69×10-06
decreased mean corpuscular volume Cep43tm1b(EUCOMM)Hmgu HET   Early adult 3.62×10-05
abnormal retina blood vessel morphology Cep43tm1b(EUCOMM)Hmgu HET Early adult 4.67×10-06
abnormal lens morphology Cep43tm1b(EUCOMM)Hmgu HET   Early adult 1.51×10-08
cataract Cep43tm1b(EUCOMM)Hmgu HET Early adult 2.66×10-08

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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 Whole Body Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

32 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Cep43 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 Cep43 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertrophic Neuropathy And Cataract
Cataract, Distal sensory impairment OMIM:239900
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Aniridia 3
Cataract OMIM:617142
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Cataract, Limb ataxia OMIM:617133
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:613801
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Coats Disease
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... ORPHA:190
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Chorea, Remitting, With Nystagmus And Cataract
Cataract, Chorea OMIM:601372
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Spastic Paraparesis-Deafness Syndrome
Ataxia, Cataract, Impaired pain sensation ORPHA:2815
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... OMIM:305390
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration OMIM:614292
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Dysequilibrium Syndrome
Ataxia, Cataract ORPHA:1766
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Nathalie Syndrome
Cataract ORPHA:2663
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... OMIM:193230
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... OMIM:212550
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration OMIM:618195
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Som... OMIM:261000
Trichomegaly
Cataract OMIM:190330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Elevated circulating creatine kinase concentration, Cataract, Retinal dysplasia OMIM:613154
Cataract 21, Multiple Types
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Neutropenia, ... OMIM:180080
Cataract 11, Multiple Types
Cataract, Chorea OMIM:610623
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Peroxisome Biogenesis Disorder 9B
Ataxia, Elevated levels of phytanic acid, Cataract, Rod-cone dystrophy OMIM:614879
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract OMIM:273680
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Cataract OMIM:609115
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... ORPHA:3202
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Leber Congenital Amaurosis 1
Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, ... OMIM:204000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... OMIM:251270
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Rod-cone dystrophy, Pigmentary retinopathy, Cataract, Elevated levels of phytanic acid, I... OMIM:614307
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Vacuolated lymphocytes, Optic atr... OMIM:204200
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Maternally-Inherited Diabetes And Deafness
Ataxia, Abnormal circulating lipid concentration, Retinopathy, Abnormal chorioretinal morphology,... ORPHA:225
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Senior-Loken Syndrome
Ataxia, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:601813
Pellagra-Like Syndrome
Ataxia, Cataract OMIM:260650
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Isolated Aniridia
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Posterior Column Ataxia With Retinitis Pigmentosa
Ataxia, Sensory ataxia, Rod-cone dystrophy, Impaired vibration sensation in the lower limbs, Posi... OMIM:609033
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Spastic Paraplegia 5A, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Optic atrophy, Limb dysmetria, Abnormal circulat... OMIM:270800
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Retinitis Pigmentosa 86
Cystoid macular edema, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618613
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Peroxisome Biogenesis Disorder 8B
Ataxia, Dysmetria, Retinal dystrophy, Optic atrophy, Cataract OMIM:614877
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... OMIM:312600
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Ataxia, Rod-cone dystrophy, Dysmetria, Distal sensory impairment, Optic atr... OMIM:612674
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Hyperornithinemia, Chorioretinal hyperpigmentation, Abnormal macular morpho... ORPHA:414
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Progressive cerebellar ataxia, Macular degeneration, Limb ata... ORPHA:284289
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cataract ORPHA:3233
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration, Pulverulent cataract, Nuclear cataract OMIM:600886
Nathalie Syndrome
Cataract OMIM:255990
Flynn-Aird Syndrome
Ataxia, Cataract, Rod-cone dystrophy OMIM:136300
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract, Retinal dystrophy OMIM:613763
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:617304
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract, Decreased circulating ceruloplasmin concentration OMIM:614482
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Gait ataxia, Cataract OMIM:224050
Leber Congenital Amaurosis
Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Cardiomyopathy, Dilated, 1Ii
Elevated circulating creatine kinase concentration, Cataract OMIM:615184
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... ORPHA:67043
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Cataract 47
Cataract, Microcornea OMIM:612018
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy OMIM:601794
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Retinitis Pigmentosa 56
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... OMIM:613581
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy ORPHA:363741
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy OMIM:263100
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy OMIM:268050
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Cataract, Retinal det... OMIM:615181
Refsum Disease, Classic
Ataxia, Retinal degeneration, Rod-cone dystrophy, Somatic sensory dysfunction, Elevated levels of... OMIM:266500
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Retinal thinning, Cataract, Asteroid hyalosis OMIM:132450
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Cataract, Truncal ataxia, Chorea ORPHA:369840
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... ORPHA:39044
Usher Syndrome Type 3
Iris hypopigmentation, Ataxia, Cataract, Astigmatism ORPHA:231183
Autosomal Recessive Stickler Syndrome
Retinal detachment, Cataract, Vitreoretinopathy, Astigmatism ORPHA:250984
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract OMIM:616722
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Anemia, Cataract, Elevated transferrin saturation OMIM:606069
Enhanced S-Cone Syndrome
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Cataract, Retinoschisis OMIM:268100
Srd5A3-Cdg
Ataxia, Rod-cone dystrophy, Optic atrophy, Microcytic anemia, Cataract, Optic disc hypoplasia ORPHA:324737
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Rod-cone dystrophy, Impaired vibration sensation in the lower limbs, Positive Romberg sig... ORPHA:88628
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Intermediate Uveitis
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Cataract, Epiretinal memb... ORPHA:279914
Linear Verrucous Nevus Syndrome
Abnormal cornea morphology, Hypophosphatemia, Aplasia/Hypoplasia of the fovea, Retinopathy, Iris ... ORPHA:2611
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Ataxia, Splenomegaly, Hemolytic anemia, Cataract, Hyperkalemia OMIM:608885
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... OMIM:277410
Congenital Rubella Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Splenomegaly, Thrombocytopenia, Cataract, A... ORPHA:290
Woolly Hair
Abnormal retinal morphology, Abnormal pupil morphology, Cataract ORPHA:170
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Astigmatism, Cata... OMIM:615986
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... OMIM:152950
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... OMIM:612109
Wolfram Syndrome 1
Megaloblastic anemia, Ataxia, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy, Cataract, ... OMIM:222300
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Dysmetria, Cataract, Macular degeneration OMIM:619780
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... OMIM:106210
Proximal Myotonic Myopathy
Cataract ORPHA:606
Infantile Refsum Disease
Ataxia, Rod-cone dystrophy, Optic atrophy, Elevated levels of phytanic acid, Cataract ORPHA:772
Retinitis Pigmentosa 74
Optic disc pallor, Posterior polar cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Mevalonic Aciduria
Ataxia, Elevated circulating C-reactive protein concentration, Nuclear cataract, Progressive cere... OMIM:610377
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Cataract, Hypoalbuminemia OMIM:618805
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Idiopathic Panuveitis
Cystoid macular edema, Cataract, Choroidal neovascularization, Epiretinal membrane, Vitreous floa... ORPHA:280921
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism OMIM:612285
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Conjunctival tela... OMIM:619774
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Hypokalemia, Band keratopathy, Hyperamylasemia OMIM:604278
Nance-Horan Syndrome
Retinal detachment, Cataract, Microcornea ORPHA:627
Congenital Bile Acid Synthesis Defect Type 4
Ataxia, Elevated circulating creatine kinase concentration, Cataract, Pigmentary retinopathy ORPHA:79095
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Anisocoria, Cataract, Temporal optic disc pallor OMIM:619649
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Muscle-Eye-Brain Disease
Optic atrophy, Elevated circulating creatine kinase concentration, Cataract ORPHA:588
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Pigment... OMIM:300578
Galactosemia I
Increased level of galactitol in red blood cells, Increased level of galactitol in plasma, Hyperg... OMIM:230400
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Elevated circulating creatine kinase concentration, Cataract, Retinal dystrophy ORPHA:370997
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Cataract, Hypocalcemic seizures OMIM:146200
Alpha-Mannosidosis, Adult Form
Corneal opacity, Ataxia, Hepatosplenomegaly, Optic disc pallor, Cataract, Pancytopenia ORPHA:309288
Congenital Sialidosis Type 2
Corneal opacity, Ataxia, Cherry red spot of the macula, Dysmetria, Hepatosplenomegaly, Yellow/whi... ORPHA:93400
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... ORPHA:2169
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Ocular albinism, Hypochromic anemia, Iris hypopigmentation, Abnormality of neutrophils, C... ORPHA:2720
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Microphthalmia With Brain And Digit Anomalies
Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Sclerocornea, Chorioretinal coloboma ORPHA:139471
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigmentation of the ... OMIM:268315
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Macular edema, Retinal neovascularization, Normocytic anemi... ORPHA:247691
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Pierson Syndrome
Remnants of the hyaloid vascular system, Hypoproteinemia, Uveal ectropion, Retinal detachment, Po... OMIM:609049
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia, Astigmatism ORPHA:261250
Autosomal Dominant Optic Atrophy And Cataract
Anterior cortical cataract, Ataxia, Cerulean cataract, Positive Romberg sign, Posterior subcapsul... ORPHA:67036
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia, Cataract, Paresthesia, Anemia OMIM:175500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Elevated circulating creatine kinase concentration, Cataract, Retinal dystrophy OMIM:616538
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Cataract, Abnormal circulating arginine concentration, Abnormal circulating g... ORPHA:247598
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Leukopenia, Aplastic anemia, Norm... ORPHA:811
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Cataract, Retinal degeneration OMIM:277700
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Hereditary Cryohydrocytosis With Reduced Stomatin
Ataxia, Zonular cataract, Spontaneous hemolytic crises, Hepatosplenomegaly, Conjugated hyperbilir... ORPHA:168577
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Cataract, Microcornea, Retinal dystrophy OMIM:610125
Xeroderma Pigmentosum, Complementation Group D
Keratitis, Ataxia, Corneal neovascularization, Choreoathetosis, Cataract, Keratoconjunctivitis si... OMIM:278730
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Knobloch Syndrome
Macular degeneration, Retinal detachment, Vitreoretinopathy, Cataract, Abnormal vitreous humor mo... ORPHA:1571
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Elevated circulating C-reactive protein concentration, Abnormality of retina... ORPHA:91500
Eisenmenger Syndrome
Increased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Hypochr... ORPHA:97214

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 Cep43

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 Cep43.

No publications found that use IMPC mice or data for Cep43.

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MGI Allele Allele Type Produced
Cep43tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Cep43tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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