Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 2.27×10-14
persistence of hyaloid vascular system Slc44a3tm1b(EUCOMM)Wtsi HOM   Early adult 3.60×10-05
abnormal retina morphology Slc44a3tm1b(EUCOMM)Wtsi HOM   Early adult 2.86×10-07
increased circulating alkaline phosphatase level Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 1.01×10-06
abnormal retinal vasculature morphology Slc44a3tm1b(EUCOMM)Wtsi HOM   Early adult 2.37×10-05
cataract Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 3.07×10-06
abnormal lens morphology Slc44a3tm1b(EUCOMM)Wtsi HOM   Early adult 3.31×10-06
abnormal retinal blood vessel morphology Slc44a3tm1b(EUCOMM)Wtsi HOM   Early adult 5.97×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

34 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cognitive impairment, Cataract, Rod-cone dystrophy OMIM:615995
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Morm Syndrome
Retinal dystrophy, Aggressive behavior, Cataract, Retinal atrophy ORPHA:75858
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... ORPHA:411527
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... OMIM:212550
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
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Norrie Disease
Optic atrophy, Dementia, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of... OMIM:310600
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration OMIM:618195
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Remnants of the h... ORPHA:231736
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Aniridia 3
Cataract OMIM:617142
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Retinitis Pigmentosa 2
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Dementia, Rod-cone dystrophy, Macular degeneration, Cataract, Psychomotor deterior... OMIM:204200
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Shallow anterior chamber, Tractional retinal detachment, Retinal exu... OMIM:613310
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Galactosemia Iv
Hypergalactosemia, Cataract OMIM:618881
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy, Cataract, Microcornea OMIM:616171
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:611040
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Optic nerve dysplasia, Progressive cataract OMIM:246000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Vitreoretinochoroidopathy
Microcornea, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, ... OMIM:193220
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... OMIM:177650
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Retinal detachment, ... ORPHA:1473
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Nathalie Syndrome
Cataract ORPHA:2663
Galactosemia Ii
Hypergalactosemia, Cataract OMIM:230200
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Neovascular Glaucoma
Abnormality of the optic nerve, Corneal stromal edema, Retinal vascular proliferation, Iris neova... ORPHA:94058
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Retinal Dystrophy And Obesity
Retinal dystrophy, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment,... OMIM:616188
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Retinal Venous Beading
Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunctival dilata... OMIM:180080
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Leber Congenital Amaurosis 1
Hyperthreoninemia, Cataract, Fundus atrophy, Pigmentary retinopathy, Keratoconus OMIM:204000
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Trichomegaly
Cataract OMIM:190330
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy OMIM:304030
Isolated Aniridia
Aplasia/Hypoplasia of the macula, Cataract, Peters anomaly, Aniridia ORPHA:250923
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Retinal dysplasia ORPHA:324416
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... ORPHA:83461
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Dementia, Cataract, Cognitive impairment ORPHA:329314
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... OMIM:618613
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy, Posterior subcapsular cataract OMIM:617304
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Shallow ... ORPHA:91495
Retinitis Pigmentosa 13
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Cognitive impairment,... OMIM:615181
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Cataract OMIM:609115
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Retinal detachment, Cataract ORPHA:171844
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Retinal degeneration, Cystoid macular degeneration OMIM:267760
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Retinal nonattachment, Shallow anterior chamber, Retinal fold, Persistent pupillary ... OMIM:221900
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Peters anomaly, Optic disc coloboma, Corneal opaci... OMIM:120200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Microspherophakia-Metaphyseal Dysplasia
Retinal detachment, Lens coloboma, Microspherophakia, Lens subluxation OMIM:157151
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Vitreous floaters, Bone spicule pigmentation of the retina, Rod-c... OMIM:618173
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:615434
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormality of the optic disc, Cataract ORPHA:65
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:612572
Gyrate Atrophy Of Choroid And Retina
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Hyperornithine... ORPHA:414
Lissencephaly 8
Elevated circulating creatine kinase concentration, Optic atrophy, Cataract OMIM:617255
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Retinal dystrophy, Hypoplasia of the retina, Cataract OMIM:263100
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy, Elevated levels of phytanic acid OMIM:614879
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Retinal atrophy OMIM:616722
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Iris coloboma, Cataract, Retinopathy, Mental deterioration, Abnormal cornea mor... ORPHA:2611
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Cognitive impairment, Cataract, Optic atrophy OMIM:614877
Retinitis Pigmentosa 56
Pigmentary retinopathy, Nuclear cataract, Optic disc pallor, Posterior subcapsular cataract, Bone... OMIM:613581
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Cataract 16, Multiple Types
Posterior polar cataract, Retinal dystrophy, Developmental cataract OMIM:613763
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation, Cataract ORPHA:3156
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Macular dystrophy, Cataract, Retinopathy, Abnormal chor... ORPHA:225
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Retinal detachment, Corneal opacity, Cataract... OMIM:613153
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy OMIM:268050
Flynn-Aird Syndrome
Dementia, Cataract, Rod-cone dystrophy OMIM:136300
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Cognitive impairment, Cataract OMIM:270800
Enhanced S-Cone Syndrome
Vitreoretinopathy, Macular edema, Cataract, Pigmentary retinopathy, Retinoschisis OMIM:268100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Astigmatism, Retinal detachment, Cataract ORPHA:250984
Retinitis Pigmentosa 25
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:602772
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal p... ORPHA:67043
Uveal Melanoma
Abnormal fundus morphology, Mydriasis, Retinal detachment, Vitreous hemorrhage, Zonular cataract,... ORPHA:39044
Retinitis Pigmentosa 10
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:180105
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract, Cognitive impairment ORPHA:3437
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Retinal Detachment
Retinal detachment OMIM:180050
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Myopic astigmatism, Aggressive behavior, Chorioretinal dysplasia, Ch... OMIM:152950
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Cataract OMIM:120433
Phenylketonuria
Blue irides, Aggressive behavior, Self-mutilation, Hyperphenylalaninemia, Irritability, Cataract,... OMIM:261600
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Intermediate Uveitis
Vitreous floaters, Macular edema, Optic neuritis, Vitreous snowballs, Cystoid macular edema, Epir... ORPHA:279914
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Marginal corneal dystrophy, Chorioretinal atrophy OMIM:210370
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Retinitis Pigmentosa 43
Optic disc pallor, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Bone spi... OMIM:613810
Bardet-Biedl Syndrome 9
Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract, Atte... OMIM:615986
Muscle-Eye-Brain Disease
Elevated circulating creatine kinase concentration, Optic atrophy, Cognitive impairment, Cataract ORPHA:588
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Retinal detachment, Cataract OMIM:604841
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... ORPHA:791
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Morning glory anomaly, Retinal colobom... OMIM:612109
Nathalie Syndrome
Cataract OMIM:255990
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Retinitis Pigmentosa 14
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:600132
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract, Decreased circulating ceruloplasmin concentration OMIM:614482
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment, Cataract ORPHA:90653
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Retinal degeneration, Rod-cone dystrophy OMIM:615558
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... OMIM:165550
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract OMIM:600886
Cataract 11, Multiple Types
Cataract OMIM:610623
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Congenital Bile Acid Synthesis Defect Type 4
Elevated circulating creatine kinase concentration, Cataract, Pigmentary retinopathy, Mental dete... ORPHA:79095
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract ORPHA:627
Aniridia 1
Hypoplasia of the fovea, Corneal erosion, Ectopia lentis, Anterior subcapsular cataract, Hypoplas... OMIM:106210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Pe... OMIM:614643
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Retinal detachment, Cataract, Lens subluxation ORPHA:93296
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Cataract 47
Microcornea, Cataract OMIM:612018
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Elevated circulating creatine kinase concentration, Cataract OMIM:615352
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract ORPHA:3173
Idiopathic Panuveitis
Conjunctival hyperemia, Vitreous floaters, Choroidal neovascularization, Vitreous snowballs, Cyst... ORPHA:280921
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Retinitis Pigmentosa 72
Optic disc pallor, Posterior subcapsular cataract, Peripapillary atrophy, Rod-cone dystrophy OMIM:616469
Refsum Disease, Classic
Retinal degeneration, Cataract, Rod-cone dystrophy, Elevated levels of phytanic acid OMIM:266500
Aniridia 2
Aniridia, Cataract OMIM:617141
Papillorenal Syndrome
Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Optic disc coloboma, Macular ... OMIM:120330
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Cognitive impairment, Apathy, Progressive neurolog... ORPHA:247691
Usher Syndrome Type 3
Astigmatism, Iris hypopigmentation, Cataract, Anxiety ORPHA:231183
Joubert Syndrome 9
Retinal dystrophy, Astigmatism, Cataract OMIM:612285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Retinal degeneration, Cataract, Elevated circulating creatine kinase concentration OMIM:615249
Isolated Ectopia Lentis
Cognitive impairment, Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Cataract, Retinal dysplasia ORPHA:272
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy, Cataract, Coloboma ORPHA:324737
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria ORPHA:2714
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Retinal dystrophy, Iris coloboma, Cataract, Microcornea ORPHA:139471
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystroph... OMIM:609033
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Werner Syndrome
Retinal degeneration, Cataract OMIM:277700
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Galactose Mutarotase Deficiency
Hypergalactosemia, Cataract ORPHA:570422
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Cataract, Coloboma, Microcornea OMIM:610125
Classic Phenylketonuria
Self-injurious behavior, Hyperphenylalaninemia, Cataract, Mental deterioration, Motor deteriorati... ORPHA:79254
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Infantile Refsum Disease
Optic atrophy, Cataract, Rod-cone dystrophy, Elevated levels of phytanic acid ORPHA:772
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation, Cataract ORPHA:44
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Walker-Warburg Syndrome
Abnormality of the optic nerve, Optic atrophy, Abnormal circulating creatine kinase concentration... ORPHA:899
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Cataract, Macular degeneration ORPHA:284289
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Elevated circulating creatine kinase concentration, Retinal dystrophy, Buphthalmos, Cataract ORPHA:370997
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Cataract OMIM:615704
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma, Cataract ORPHA:163937
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment, Cataract ORPHA:1856
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Abnormality iris morphology, Elevated circulating creatine kinase concentration, O... ORPHA:370959
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Iris hypopigmentation ORPHA:85194
Antiphospholipid Syndrome, Familial
Keratitis, Central retinal artery occlusion, Retinal detachment, Retinal vasculitis, Vitritis, Ir... OMIM:107320
Proximal Myotonic Myopathy
Cataract ORPHA:606
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Pellagra-Like Syndrome
Cataract OMIM:260650
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Cataract, Hypocalcemia OMIM:146200
Phacoanaphylactic Uveitis
Retinal arteritis, Conjunctival hyperemia, Hypopyon, Tractional retinal detachment, Corneal kerat... ORPHA:209959
Otodental Syndrome
Lens coloboma, Retinal coloboma, Iris coloboma, Cataract, Microcornea ORPHA:2791
Microphthalmia, Isolated 8
Coloboma, Retinal detachment, Optic nerve hypoplasia OMIM:615113
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Optic disc pallor, Retinal degeneration, Macular coloboma, Cataract, Attenuation... OMIM:619260
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Rapid neurologic deterioration, Corneal opaci... ORPHA:585
Galactokinase Deficiency
Nuclear cataract, Hypergalactosemia, Hypercholesterolemia, Cataract, Psychomotor deterioration, I... ORPHA:79237
Monilethrix
Cognitive impairment, Cataract ORPHA:573
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Elevated circulating creatine kinase concentration, Retinal dystrophy, Buphthalmos, Cataract OMIM:616538
Norrie Disease
Optic atrophy, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocorn... ORPHA:649
Alpha-Mannosidosis, Adult Form
Anxiety, Optic disc pallor, Cataract, Corneal opacity ORPHA:309288
Neurofibromatosis Type 2
Abnormality of the optic nerve, Posterior subcapsular cataract, Memory impairment, Cortical catar... ORPHA:637
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Coloboma, Microcornea, Ectopia pupillae OMIM:615877
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Irritability, Cataract, Hypocalcemia, Anxiety, Hyperp... ORPHA:36913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Buphthalmos, Retinal dysplasia, Elevated circulating creatine kinase concentration... OMIM:236670
Congenital Tufting Enteropathy
Corneal erosion, Punctate keratitis, Optic disc coloboma, Irritability, Cataract ORPHA:92050
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:2715
Donnai-Barrow Syndrome
Hypoplasia of the iris, Retinal dystrophy, Iris coloboma, Retinal detachment, Cataract OMIM:222448
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Calcinosis, Cataract OMIM:617913
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Spondyloocular Syndrome
Retinal detachment, Cataract OMIM:605822
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:88628
Warburg Micro Syndrome 2
Optic atrophy, Microcornea, Cataract, Developmental cataract OMIM:614225
Cerebrotendinous Xanthomatosis
Dementia, Optic disc pallor, Cataract, Abnormal circulating cholesterol concentration OMIM:213700
Usher Syndrome
Abnormality of retinal pigmentation, Cognitive impairment, Cataract, Astigmatism, Anxiety ORPHA:886
Knobloch Syndrome
Ectopia lentis, Vitreoretinopathy, Macular degeneration, Abnormal vitreous humor morphology, Reti... ORPHA:1571
Proteus-Like Syndrome
Limbal dermoid, Heterochromia iridis, Abnormal pupil morphology, Retinal detachment, Cataract ORPHA:2969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Buphthalmos, Retinal degeneration, Retinal dysplasia, Elevated circulating creatin... OMIM:253280
Stromme Syndrome
Sclerocornea, Optic nerve hypoplasia, Peters anomaly, Iris coloboma, Retinal vascular tortuosity,... OMIM:243605
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Optic atrophy, Cataract, Memory impairment ORPHA:314404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase concentration, Retinal det... OMIM:253800
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Cataract, Pigmentary retinopathy OMIM:610651
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Elevated circulating creatine kinase concentration, Cognitive impairment, Cataract ORPHA:363623
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Keratitis, Cataract, Mental deterioration, Corneal neovascularization... OMIM:278730
Incontinentia Pigmenti
Optic atrophy, Hypoplasia of the fovea, Retinal vascular proliferation, Keratitis, Retinal detach... OMIM:308300
Neuroocular Syndrome
Blue irides, Lens coloboma, Hypoplasia of the fovea, Stellate iris, Brushfield spots, Peters anom... OMIM:619539
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, ... ORPHA:67036
Phace Syndrome
Lens coloboma, Retinal vascular malformation, Sclerocornea, Optic nerve hypoplasia, Iris coloboma... ORPHA:42775
Osteoporosis-Pseudoglioma Syndrome
Vitreoretinopathy, Iris atrophy, Absent anterior chamber of the eye, Cataract OMIM:259770
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Sclerocornea, Cataract, Pigmentary retinopathy OMIM:309801
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Choroidal neovascularization, Chorioretinal scar, Elevated c... ORPHA:91500
Blau Syndrome
Cataract, Band keratopathy, Cystoid macular edema, Iritis OMIM:186580
Microphthalmia, Syndromic 2
Developmental cataract, Iris coloboma, Retinal detachment, Remnants of the hyaloid vascular syste... OMIM:300166

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.

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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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