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

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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 Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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
Cataract, Ataxia ORPHA:1397
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
X-Linked Retinoschisis
Retinoschisis, Cataract 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 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Limb ataxia, Gait ataxia OMIM:617133
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Intrinsic Factor Deficiency
Somatic sensory dysfunction, Increased RBC distribution width, Megaloblastic anemia, Increased me... OMIM:261000
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Chorea, Remitting, With Nystagmus And Cataract
Chorea, Cataract OMIM:601372
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Cataract 42
Cataract, Developmental cataract OMIM:115900
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Dysequilibrium Syndrome
Cataract, Ataxia ORPHA:1766
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Spastic Paraparesis-Deafness Syndrome
Cataract, Ataxia, Impaired pain sensation ORPHA:2815
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Nathalie Syndrome
Cataract ORPHA:2663
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Cataract 11, Multiple Types
Chorea, Cataract, Developmental cataract OMIM:610623
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Trichomegaly
Cataract OMIM:190330
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Myopia 17, Autosomal Dominant
Retinal hole, Presenile cataracts OMIM:608367
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration OMIM:609115
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Ataxia, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Incre... OMIM:614307
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninem... OMIM:204000
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retina... OMIM:204200
Morm Syndrome
Cataract, Retinal dystrophy, Retinal atrophy ORPHA:75858
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Maternally-Inherited Diabetes And Deafness
Cataract, Abnormal chorioretinal morphology, Ataxia, Macular dystrophy, Abnormal circulating lipi... ORPHA:225
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... OMIM:601813
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Ataxia ORPHA:3156
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Ataxia, Optic atrophy, Impaired vibration sens... OMIM:609033
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... ORPHA:2334
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Impaired distal proprioception, Impaired vibration sensation in the lower limbs, Optic ... OMIM:270800
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Optic atrophy, Dysmetria, Distal sensory impairment, Rod-cone dystrophy, Subcap... OMIM:612674
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Hyp... ORPHA:414
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Tortuosity of conjunctival vessels, Dysmetria, Limb ataxia, Macular degeneration, Progr... ORPHA:284289
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract OMIM:600886
Nathalie Syndrome
Cataract OMIM:255990
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebellar ataxia associate... OMIM:224050
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Flynn-Aird Syndrome
Rod-cone dystrophy, Cataract, Ataxia OMIM:136300
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Cataract 47
Microcornea, Cataract OMIM:612018
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Usher Syndrome Type 3
Cataract, Ataxia, Astigmatism, Iris hypopigmentation ORPHA:231183
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Cataract, Ataxia, Elevated circulating creatine kinase concentration OMIM:615350
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Cataract, Elevated circulating creatine kinase concen... OMIM:615181
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract, Elevated circulating phytanic acid concentration, Ataxia OMIM:614879
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy, Cataract, Astigmatism ORPHA:250984
Intermediate Uveitis
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... ORPHA:279914
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Elevated transferrin saturation, Cataract, Anemia OMIM:606069
Refsum Disease, Classic
Somatic sensory dysfunction, Cataract, Ataxia, Elevated circulating phytanic acid concentration, ... OMIM:266500
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Cataract, Ataxia, Impaired vibration sensation in the lo... ORPHA:88628
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Hypophosphatemia, Retinopathy, Iris coloboma, Aplasia/Hypop... ORPHA:2611
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen... OMIM:615986
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, A... ORPHA:290
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Cataract, Dysmetria OMIM:619780
Wolfram Syndrome 1
Sideroblastic anemia, Cataract, Ataxia, Megaloblastic anemia, Optic atrophy, Pigmentary retinopat... OMIM:222300
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Proximal Myotonic Myopathy
Cataract ORPHA:606
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... OMIM:277410
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Infantile Refsum Disease
Cataract, Ataxia, Optic atrophy, Elevated circulating phytanic acid concentration, Rod-cone dystr... ORPHA:772
Mevalonic Aciduria
Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Ataxia, Elevated circulating creatine... OMIM:610377
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... ORPHA:280921
Cataract 16, Multiple Types
Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract OMIM:613763
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Hypoalbuminemia, Microcytic anemia OMIM:618805
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism OMIM:612285
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy OMIM:604278
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Persi... OMIM:617052
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy, Cataract, Ataxia, Elevated circulating creatine kinase concentration ORPHA:79095
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract ORPHA:627
Muscle-Eye-Brain Disease
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration ORPHA:588
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration ORPHA:370997
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Galactosemia I
Hemolytic anemia, Cataract, Increased level of galactitol in plasma, Hypergalactosemia, Increased... OMIM:230400
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Aniridia 3
Aniridia, Cataract OMIM:617142
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Ataxia, Hepatosplenomegaly ORPHA:309288
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... ORPHA:2169
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Development... ORPHA:93400
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Cataract OMIM:146200
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Ataxia, Abnormality of neutrophils, Ocular albinism, Hypochromic anemia, Iris hypopigme... ORPHA:2720
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Cataract, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Nu... OMIM:608885
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... OMIM:268315
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Abnormal retinal vascular morphology, Elevated circu... ORPHA:247691
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... ORPHA:124
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
16Q24.3 Microdeletion Syndrome
Astigmatism, Optic nerve hypoplasia, Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Cerulean cataract, ... ORPHA:67036
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Retinal degeneration, Cataract OMIM:277700
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Lymphop... OMIM:127550
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration OMIM:616538
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Cataract, Ataxia, Conjugated hyperbilirubinemia, Hepatosplenomegaly... ORPHA:168577
Microphthalmia, Syndromic 5
Microcornea, Cataract, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Xeroderma Pigmentosum, Complementation Group D
Cataract, Ataxia, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal... OMIM:278730
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... OMIM:105650
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... ORPHA:1571
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... ORPHA:91500
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... 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.

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
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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