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Gene: Slc44a3 MGI:2384860

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Gene Summary

Name:
solute carrier family 44, member 3
Synonyms:
N/A

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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
persistence of hyaloid vascular system Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 1.05×10-05
abnormal lens morphology Slc44a3tm1b(EUCOMM)Wtsi HOM   Early adult 4.26×10-06
abnormal vitreous body morphology Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 1.45×10-05
cataract Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 4.09×10-06
abnormal retina morphology Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 2.47×10-08
abnormal retina vasculature morphology Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 2.84×10-06
abnormal retina blood vessel morphology Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 1.47×10-05
decreased exploration in new environment Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 2.27×10-14
increased circulating alkaline phosphatase level Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 1.01×10-06

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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.

Electrocardiogram (ECG)

Waveform Image

34 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Human diseases caused by Slc44a3 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 Slc44a3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Wagner Vitreoretinopathy
Cataract, Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, ... OMIM:143200
Coats Disease
Cataract, Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment, ... ORPHA:190
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Cataract 50 With Or Without Glaucoma
Cataract, Retinal detachment, Persistent pupillary membrane OMIM:620253
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor OMIM:165300
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Birdshot Chorioretinopathy
Cataract, Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal d... ORPHA:179
Retinitis Pigmentosa 84
Cataract, Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation... OMIM:618220
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Peripheral vitreoretinal degeneration, Retinal detachment, Lattice r... OMIM:614292
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyaloid vascular sys... ORPHA:231736
Retinitis Pigmentosa 9
Cataract, Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular e... OMIM:180104
Stickler Syndrome Type 2
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy ORPHA:90654
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Subcapsular cataract, Retinal exudate, Re... OMIM:133780
Vitreoretinal Degeneration, Snowflake Type
Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Corneal guttata, Retina... OMIM:193230
Cone-Rod Dystrophy 16
Cataract, Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallo... OMIM:614500
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Cataract,... ORPHA:891
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Retinitis Pigmentosa 4
Cataract, Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Atten... OMIM:613731
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Megalocornea
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... OMIM:309300
Leber Congenital Amaurosis 2
Cataract, Eye poking, Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Keratoconus, Att... OMIM:204100
Leber Congenital Amaurosis 8
Cataract, Eye poking, Pigmentary retinopathy, Macular coloboma, Keratoconus, Choriocapillaris atr... OMIM:613835
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Exudative Vitreoretinopathy 5
Retinal exudate, Tractional retinal detachment, Shallow anterior chamber, Falciform retinal fold,... OMIM:613310
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Morm Syndrome
Retinal dystrophy, Cataract, Aggressive behavior, Retinal atrophy ORPHA:75858
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Retinal detachme... OMIM:610202
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
Retinitis Pigmentosa 13
Subcapsular cataract, Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degen... OMIM:600059
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of th... OMIM:611040
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Macular degeneration, Anxiety, Dementia, Retinal degeneration, Psychomotor deterioratio... OMIM:204200
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal ... OMIM:616108
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Leber Congenital Amaurosis 1
Cataract, Eye poking, Pigmentary retinopathy, Hyperthreoninemia, Fundus atrophy, Keratoconus, Att... OMIM:204000
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... OMIM:605670
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Pulverulent cataract, Pigmentary retinopathy, Retinal ... OMIM:193220
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Abnormality of retinal ... OMIM:251270
Retinal Dystrophy And Obesity
Peripapillary atrophy, Astigmatism, Retinal detachment, Retinal dots, Attenuation of retinal bloo... OMIM:616188
Exudative Vitreoretinopathy 6
Cataract, Retinal exudate, Cortical cataract, Retinal detachment, Tractional retinal detachment, ... OMIM:616468
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Optic nerve dysplasia, Progressive cataract OMIM:246000
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Retinal detachment, Posterior embryotoxon, Chorioretinal coloboma, Corne... ORPHA:1473
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... OMIM:225200
Morning Glory Disc Anomaly
Optic disc coloboma, Retinal detachment, Cataract, Abnormality of retinal pigmentation ORPHA:35737
Stickler Syndrome, Type V
Cataract, Vitreoretinopathy, Retinal detachment OMIM:614284
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Aniridia 2
Cataract, Iris coloboma, Lens subluxation, Aniridia, Optic atrophy OMIM:617141
Cataract 42
Cataract, Developmental cataract OMIM:115900
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... OMIM:193235
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Neovascular Glaucoma
Retinal vascular proliferation, Retinal detachment, Abnormal anterior chamber morphology, Abnorma... ORPHA:94058
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Subcapsular cataract, Retinal exudate, Tractional retinal de... OMIM:601813
Norrie Disease
Cataract, Retinal detachment, Dementia, Optic atrophy, Buphthalmos, Shallow anterior chamber, Hyp... OMIM:310600
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Eales Disease
Subhyaloid hemorrhage, Vitreous floaters, Rhegmatogenous retinal detachment, Iris neovascularizat... ORPHA:40923
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Coloboma, Retinal dysplasia, Ocular anterior segment dysgenesis ORPHA:324416
Retinitis Pigmentosa 86
Cortical cataract, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618613
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... ORPHA:83461
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Macular atrophy, Iris coloboma, Corneal scarring, Retinal detachment, Buphthalmos, Chor... OMIM:212550
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Cognitive impairment, Optic atrophy, Dementia ORPHA:329314
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Cho... OMIM:312600
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia ORPHA:1068
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Persistent Hyperplastic Primary Vitreous
Cataract, Tractional retinal detachment, Buphthalmos, Persistent pupillary membrane, Shallow ante... ORPHA:91495
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma OMIM:120433
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Morning glory anomaly, Chorioretinal coloboma, Corneal opacity, Optic disc c... OMIM:120200
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Autosomal Dominant Keratitis
Cataract, Hypoplasia of the fovea, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal... ORPHA:2334
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Retinal detachment, Microphakia, Abnormality of retinal pigmentation, Lens subluxation ORPHA:171844
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... OMIM:617304
Trichomegaly
Cataract OMIM:190330
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:615922
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... OMIM:613194
Cataract 9, Multiple Types
Cataract, Iris coloboma, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Re... OMIM:221900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Macular atrophy, Optic disc pallor, Retinopathy, Optic atrophy, Microcornea OMIM:616171
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Elevated circulating phytanic acid concentration, Increased circulating very long-chain... OMIM:614307
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Coloboma, Ocular, Autosomal Recessive
Cataract, Iris coloboma, Lens subluxation, Optic disc coloboma, Retinal coloboma OMIM:216820
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Retinitis Pigmentosa 83
Vitreous floaters, Cystoid macular edema, Asteroid hyalosis, Bone spicule pigmentation of the ret... OMIM:618173
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrop... OMIM:612572
Retinitis Pigmentosa 10
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180105
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Cataract, Abnormality of retinal pigmentation ORPHA:65
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613581
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy OMIM:616722
Senior-Loken Syndrome
Retinal dystrophy, Cataract, Abnormality of retinal pigmentation ORPHA:3156
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Retinal detachment, Elevated circulating creatine kinase concentration, Optic nerve hyp... OMIM:615181
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract, Abnormal macular morphology, Hyperornithinemia, Chorioretinal hyp... ORPHA:414
Uveal Melanoma
Zonular cataract, Mydriasis, Ciliary body melanoma, Iris melanoma, Retinal detachment, Vitreous h... ORPHA:39044
Retinitis Pigmentosa 25
Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:602772
Autosomal Recessive Stickler Syndrome
Cataract, Vitreoretinopathy, Retinal detachment, Astigmatism ORPHA:250984
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the ... OMIM:618195
Linear Verrucous Nevus Syndrome
Cataract, Hypophosphatemia, Iris coloboma, Aplasia/Hypoplasia of the fovea, Mental deterioration,... ORPHA:2611
Enhanced S-Cone Syndrome
Cataract, Vitreoretinopathy, Pigmentary retinopathy, Retinoschisis, Macular edema OMIM:268100
Vogt-Koyanagi-Harada Disease
Cataract, Cognitive impairment, Retinal detachment ORPHA:3437
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Cataract OMIM:618660
Maternally-Inherited Diabetes And Deafness
Cataract, Abnormal circulating lipid concentration, Macular dystrophy, Retinopathy, Abnormal chor... ORPHA:225
Retinitis Pigmentosa 23
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Absent foveal reflex, R... OMIM:300424
Flynn-Aird Syndrome
Cataract, Dementia, Rod-cone dystrophy OMIM:136300
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia, Morning glo... OMIM:165550
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Chorioretinal dysplasia, Astigmatism, Retinal detachment, Optic atrophy, Chorioretinal ... OMIM:152950
Intermediate Uveitis
Cataract, Vitreous floaters, Optic neuritis, Vitreous snowballs, Epiretinal membrane, Cystoid mac... ORPHA:279914
Spastic Paraplegia 5A, Autosomal Recessive
Abnormal circulating cholesterol concentration, Cognitive impairment, Optic atrophy, Cataract OMIM:270800
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Mental deterioration, Macular degeneration OMIM:619780
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Retinitis Pigmentosa 43
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613810
Muscle-Eye-Brain Disease
Cataract, Cognitive impairment, Optic atrophy, Elevated circulating creatine kinase concentration ORPHA:588
Pierson Syndrome
Cataract, Hypoproteinemia, Retinal vascular tortuosity, Hypopigmentation of the fundus, Rieger an... OMIM:609049
Bardet-Biedl Syndrome 9
Cataract, Astigmatism, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation... OMIM:615986
Stickler Syndrome, Type Ii
Cataract, Retinal detachment, Abnormal vitreous humor morphology OMIM:604841
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Retinal detachment, Elevated circulating creatine kinase concentration, Corneal opacity... OMIM:613153
Retinitis Pigmentosa
Cataract, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Keratoconus,... ORPHA:791
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:613983
Stickler Syndrome Type 1
Cataract, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90653
Oculoauricular Syndrome
Cataract, Iris cyst, Rod-cone dystrophy, Iris coloboma, Morning glory anomaly, Cone/cone-rod dyst... OMIM:612109
Phenylketonuria
Blue irides, Cataract, Hyperphenylalaninemia, Self-mutilation, Maternal hyperphenylalaninemia, An... OMIM:261600
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Cln3 Disease
Cataract, Pigmentary retinopathy, Anxiety, Dementia, Memory impairment, Mental deterioration, Opt... ORPHA:228346
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Achondrogenesis Type 2
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Lens subluxation ORPHA:93296
Retinitis Pigmentosa 72
Peripapillary atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of... OMIM:616469
Lissencephaly 8
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:617255
Nance-Horan Syndrome
Cataract, Retinal detachment, Microcornea ORPHA:627
Prune1-Related Neurological Syndrome
Cataract, Retinopathy, Optic atrophy, Elevated circulating creatine kinase concentration ORPHA:544469
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Pigmentary retinopathy, Memory impairment, Elevated circulating creatine kinase concent... ORPHA:79095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Elevated circulating creatine kinase concentration, Optic nerve hyp... OMIM:614643
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Aniridia 1
Cataract, Hypoplasia of the fovea, Ectopia pupillae, Retinal vascular tortuosity, Ectopia lentis,... OMIM:106210
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Subcapsular cataract, Optic atrophy, Rod-cone dystrophy OMIM:612674
Oculo-Palato-Cerebral Syndrome
Cataract, Remnants of the hyaloid vascular system, Retinal detachment, Leukocoria ORPHA:2714
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... ORPHA:364055
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Optic disc pallor ORPHA:3173
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract, Lenticonus, Retinal dystrophy OMIM:613763
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Optic atrophy, Retinal dysplasia ORPHA:272
Chromosome Xp11.3 Deletion Syndrome
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic atrophy, Rod-cone d... OMIM:300578
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Coats Disease
Retinal telangiectasia, Exudative retinal detachment, Leukocoria OMIM:300216
Genetic Hyperferritinemia Without Iron Overload
Cataract, Abnormal transferrin saturation, Increased circulating ferritin concentration, Elevated... ORPHA:254704
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Apathy, Abnormal retinal vascular morphology, Cognitive impairment, Anxiety, Progressive neurolog... ORPHA:247691
Refsum Disease, Classic
Cataract, Elevated circulating phytanic acid concentration, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Coloboma, Elevated circulating creatine kinase concentration, Retinal degeneration OMIM:615249
Idiopathic Panuveitis
Cataract, Vitreous floaters, Vitreous snowballs, Epiretinal membrane, Cystoid macular edema, Conj... ORPHA:280921
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Posterior Column Ataxia With Retinitis Pigmentosa
Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of retinal... OMIM:609033
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris ORPHA:1067
X-Linked Intellectual Disability, Najm Type
Cataract, Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia ORPHA:163937
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Optic disc pallor OMIM:613730
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Macular degeneration, Tortuosity of conjunctival vessels ORPHA:284289
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy OMIM:612285
Cataract 47
Cataract, Microcornea OMIM:612018
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Macular atrophy, Optic disc pallor, Retinal degeneration, Macular coloboma, Attenuation... OMIM:619260
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Rod-cone dys... OMIM:268315
Infantile Refsum Disease
Elevated circulating phytanic acid concentration, Optic atrophy, Cataract, Rod-cone dystrophy ORPHA:772
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Irritability, Hypocalcemia OMIM:146200
Microphthalmia, Syndromic 5
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma OMIM:610125
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Megalocornea, Retinal detachment, Elevated circulating creatine kinase concentration, O... ORPHA:370959
Walker-Warburg Syndrome
Cataract, Chorioretinal dysplasia, Iris coloboma, Retinal detachment, Abnormal circulating creati... ORPHA:899
Microphthalmia With Brain And Digit Anomalies
Cataract, Iris coloboma, Chorioretinal coloboma, Sclerocornea, Microcornea, Retinal dystrophy ORPHA:139471
Peroxisome Biogenesis Disorder 9B
Cataract, Elevated circulating phytanic acid concentration, Rod-cone dystrophy OMIM:614879
Classic Phenylketonuria
Cataract, Hyperphenylalaninemia, Motor deterioration, Memory impairment, Self-injurious behavior,... ORPHA:79254
Bietti Crystalline Corneoretinal Dystrophy
Corneal crystals, Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration OMIM:210370
Cataract 6, Multiple Types
Developmental cataract, Choroideremia, Posterior polar cataract OMIM:116600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Elevated circulating creatine kinase concentration, Posterior synechiae o... OMIM:613154
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Elevated circulating creatine kinase concentration, Retinal dystrophy ORPHA:370997
Otodental Syndrome
Cataract, Lens coloboma, Iris coloboma, Retinal coloboma, Microcornea ORPHA:2791
Antiphospholipid Syndrome, Familial
Central retinal artery occlusion, Retinal detachment, Iritis, Vitritis, Keratitis, Retinal vascul... OMIM:107320
Phacoanaphylactic Uveitis
Retinal arteritis, Vitreoretinopathy, Anterior chamber flare grade 1+, Abnormal pupil morphology,... ORPHA:209959
Aniridia 3
Cataract, Aniridia OMIM:617142
Isolated Ectopia Lentis
Cataract, Cognitive impairment, Ectopia pupillae, Ectopia lentis ORPHA:1885
Multiple Sulfatase Deficiency
Cataract, Rapid neurologic deterioration, Abnormality of retinal pigmentation, Corneal opacity, O... ORPHA:585
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Cataract 10, Multiple Types
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Norrie Disease
Cataract, Anterior chamber synechiae, Ectopia lentis, Abnormal retinal vascular morphology, Abnor... ORPHA:649
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Werner Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia, Cataract, Retinal degeneration OMIM:277700
Full Nf2-Related Schwannomatosis
Epiretinal membrane, Cortical cataract, Memory impairment, Abnormal optic nerve morphology, Retin... ORPHA:637
Papillorenal Syndrome
Cataract, Morning glory anomaly, Macular degeneration, Retinal detachment, Lens luxation, Macular... OMIM:120330
Proximal Myotonic Myopathy
Cataract ORPHA:606
Alpha-Mannosidosis, Adult Form
Cataract, Anxiety, Optic disc pallor, Corneal opacity ORPHA:309288
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Optic atrophy, Cataract, Abnormality of retinal pigmentation ORPHA:2715
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Irritability, Punctate keratitis, Optic disc coloboma ORPHA:92050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Retinal atrophy, Megalocornea, Retinal detachment, Optic nerve hypoplasia, Elevated cir... OMIM:236670
Atelis Syndrome 2
Developmental cataract, Remnants of the hyaloid vascular system, Vitreous hemorrhage, Anxiety OMIM:620185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Elevated circulating creatine kinase concentration, Retinal dystrophy OMIM:616538
Knobloch Syndrome
Cataract, Ectopia lentis, Vitreoretinopathy, Macular degeneration, Retinal detachment, Abnormal v... ORPHA:1571
Proteus-Like Syndrome
Cataract, Abnormal pupil morphology, Retinal detachment, Limbal dermoid, Heterochromia iridis ORPHA:2969
Usher Syndrome
Cataract, Astigmatism, Anxiety, Cognitive impairment, Abnormality of retinal pigmentation ORPHA:886
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Stromme Syndrome
Cataract, Retinal vascular tortuosity, Iris coloboma, Optic nerve hypoplasia, Sclerocornea, Micro... OMIM:243605
Xeroderma Pigmentosum, Complementation Group B
Cataract, Pigmentary retinopathy, Optic atrophy OMIM:610651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Megalocornea, Elevated circulating creatine kinase concentration, Reti... OMIM:253280
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cataract, Mental deterioration, Optic atrophy, Memory impairment ORPHA:314404
Cataract 20, Multiple Types
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract OMIM:116100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cataract, Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hype... ORPHA:247598
Neuroocular Syndrome
Blue irides, Hypoplasia of the fovea, Cataract, Lens coloboma, Brushfield spots, Iris coloboma, S... OMIM:619539
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Cerulean cataract, Posterior cortical cataract, Anterior subcapsular cataract, Anterior... ORPHA:67036
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Phace Syndrome
Cataract, Retinal vascular malformation, Lens coloboma, Iris coloboma, Optic nerve hypoplasia, Sc... ORPHA:42775
Osteoporosis-Pseudoglioma Syndrome
Cataract, Vitreoretinopathy, Absent anterior chamber of the eye, Retinal calcification, Exudative... OMIM:259770
Microphthalmia, Syndromic 2
Iris coloboma, Retinal detachment, Developmental cataract, Remnants of the hyaloid vascular syste... OMIM:300166
Tubulointerstitial Nephritis And Uveitis Syndrome
Cataract, Papilledema, Choroidal neovascularization, Cystoid macular edema, Chorioretinal scar, A... ORPHA:91500
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Cyclopia, Chorioretinal coloboma, Iris coloboma OMIM:157170

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 Slc44a3

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 Slc44a3.

No publications found that use IMPC mice or data for Slc44a3.

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
Slc44a3tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Slc44a3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Slc44a3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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