banner
Genes Phenotypes Help, News, Blog

Gene: Slc44a3 MGI:2384860

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 2.58×10-14
abnormal retina vasculature morphology Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 6.82×10-07
increased circulating alkaline phosphatase level Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 1.01×10-06
abnormal lens morphology Slc44a3tm1b(EUCOMM)Wtsi HOM   Early adult 2.42×10-06
abnormal retina blood vessel morphology Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 3.69×10-06
abnormal retina morphology Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 2.45×10-08
persistence of hyaloid vascular system Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 2.79×10-06
abnormal vitreous body morphology Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 5.44×10-06
cataract Slc44a3tm1b(EUCOMM)Wtsi HOM Early adult 1.60×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

View images
Electrocardiogram (ECG)

Waveform Image

34 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View 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
Retinal dysplasia, Falciform retinal fold OMIM:312550
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract 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
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... ORPHA:179
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... OMIM:614292
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Memory impairment, Cataract OMIM:620312
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Tractional retinal detachment, Shallow anterior cha... OMIM:613310
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cataract, Macular degeneration, Retinal degeneration, Rod-cone dystrophy, Dementia... OMIM:204200
Vitreoretinochoroidopathy
Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin... OMIM:251270
Neovascular Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Retino... ORPHA:94058
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Astigmatism, Retinal d... OMIM:616188
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... OMIM:616468
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Cataract 42
Cataract, Developmental cataract OMIM:115900
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Depression, Cognitive impairment, Dementia ORPHA:329314
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract, Optic nerve dysplasia OMIM:246000
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Hyperthreoni... OMIM:204000
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Depression, Elevated circulating phytanic acid concentration, I... OMIM:614307
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Eales Disease
Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis... ORPHA:40923
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... OMIM:177650
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos... OMIM:310600
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Shallow anterior chamber, Macular atrophy OMIM:267760
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Trichomegaly
Cataract OMIM:190330
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... OMIM:617304
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cataract, Microcornea, Retinopathy, Macular atrophy, Optic disc pallor OMIM:616171
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Retinitis Pigmentosa 46
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod... OMIM:612572
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... OMIM:180105
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous... OMIM:618173
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract ORPHA:65
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Retinitis Pigmentosa 56
Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ... OMIM:613581
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Elevated circulating creatine kinase concentration, Retinal detachment, Optic nerve hyp... OMIM:615181
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... OMIM:602772
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal macular morphology, Hyperornithinemia, Chorioretinal atrophy, Subcapsular cata... ORPHA:414
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel... ORPHA:39044
Autosomal Recessive Stickler Syndrome
Astigmatism, Cataract, Retinal detachment, Vitreoretinopathy ORPHA:250984
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment, Cognitive impairment ORPHA:3437
Linear Verrucous Nevus Syndrome
Mental deterioration, Cataract, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of th... ORPHA:2611
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal... OMIM:300424
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Flynn-Aird Syndrome
Dementia, Cataract, Rod-cone dystrophy OMIM:136300
Retinitis Pigmentosa 43
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon... OMIM:613810
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Attention deficit hyperact... OMIM:152950
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... ORPHA:279914
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg... ORPHA:83461
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... ORPHA:263479
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Mental deterioration, Macular degeneration, Cataract OMIM:619780
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Abnormal circulating cholesterol concentration, Cognitive impairment, Cataract OMIM:270800
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Bardet-Biedl Syndrome 9
Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p... OMIM:615986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Elevated circulating creatine kinase concentration, Coloboma, Retinal detachment, Corne... OMIM:613153
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Muscle-Eye-Brain Disease
Optic atrophy, Elevated circulating creatine kinase concentration, Cognitive impairment, Cataract ORPHA:588
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Pigmentary retinopathy, Memory impairment, Depression, Cataract, Elevated c... ORPHA:79095
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi... OMIM:613983
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment, Cataract ORPHA:90653
Achondrogenesis Type 2
Lens subluxation, Abnormal vitreous humor morphology, Retinal detachment, Cataract ORPHA:93296
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone... OMIM:616469
Lissencephaly 8
Optic atrophy, Elevated circulating creatine kinase concentration, Cataract OMIM:617255
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment ORPHA:627
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu... OMIM:106210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Retinal detachment,... OMIM:614643
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r... OMIM:300578
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Cataract, Rod-cone dystrophy, Subcapsular cataract OMIM:612674
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract ORPHA:3173
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit... ORPHA:364055
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Depression, Astigmatism ORPHA:231183
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract, Lenticonus, Retinal dystrophy OMIM:613763
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Retinal detachment, Cataract OMIM:604841
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Retinal dysplasia, Cataract ORPHA:272
Stickler Syndrome, Type Iv
Cataract, Astigmatism, Chorioretinal degeneration, Rhegmatogenous retinal detachment, Degenerativ... OMIM:614134
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Refsum Disease, Classic
Cataract, Elevated circulating phytanic acid concentration, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Srd5A3-Cdg
Optic atrophy, Cataract, Optic disc hypoplasia, Coloboma, Rod-cone dystrophy ORPHA:324737
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Elevated circulating creatine kinase concentration, Coloboma, Retinal degeneration OMIM:615249
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Bone spicu... OMIM:609033
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Cataract, Chorioretinal coloboma, Optic nerve hypoplasia ORPHA:163937
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Memory impairment, Depression, Elevated circulating creatinine concentration, Irri... ORPHA:247691
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Classic Phenylketonuria
Mental deterioration, Cataract, Memory impairment, Depression, Attention deficit hyperactivity di... ORPHA:79254
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract OMIM:613730
Microphthalmia, Syndromic 5
Cataract, Microcornea, Coloboma, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Attenuation of retinal blood vessels, Retinal degeneration, Macular atrophy, Geographic... OMIM:619260
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
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ... OMIM:268315
Walker-Warburg Syndrome
Optic atrophy, Cataract, Microcornea, Abnormal optic nerve morphology, Abnormal circulating creat... ORPHA:899
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cataract, Abnormality iris morphology, Megalocornea, Elevated circulating creatine... ORPHA:370959
Infantile Refsum Disease
Optic atrophy, Elevated circulating phytanic acid concentration, Rod-cone dystrophy, Cataract ORPHA:772
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemia, Irritability, Hypocalcemic seizures OMIM:146200
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma, Retinal dystrophy ORPHA:139471
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy, Elevated circulating phytanic acid concentration OMIM:614879
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy, Retinal degeneration OMIM:210370
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Macular edema, Hypopyon, Posterior synechiae of the anterior cha... ORPHA:209959
Alpha-Mannosidosis, Adult Form
Cataract, Depression, Confusion, Corneal opacity, Optic disc pallor ORPHA:309288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Elevated circ... OMIM:613154
Antiphospholipid Syndrome, Familial
Keratitis, Central retinal artery occlusion, Retinal vasculitis, Retinal detachment, Iritis, Vitr... OMIM:107320
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Retinal dystrophy, Elevated circulating creatine kinase concentration ORPHA:370997
Otodental Syndrome
Cataract, Microcornea, Retinal coloboma, Lens coloboma, Iris coloboma ORPHA:2791
Aniridia 3
Cataract, Aniridia OMIM:617142
Multiple Sulfatase Deficiency
Optic atrophy, Cataract, Rapid neurologic deterioration, Abnormality of retinal pigmentation, Cor... ORPHA:585
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Cognitive impairment, Ectopia pupillae ORPHA:1885
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Norrie Disease
Optic atrophy, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Irrit... ORPHA:649
Proximal Myotonic Myopathy
Cataract ORPHA:606
Werner Syndrome
Cataract, Elevated hemoglobin A1c, Hypertriglyceridemia, Retinal degeneration OMIM:277700
Papillorenal Syndrome
Cataract, Macular degeneration, Lens luxation, Optic disc coloboma, Retinal coloboma, Elevated ci... OMIM:120330
Autoimmune Hypoparathyroidism
Cataract, Depression, Hyperphosphatemia, Confusion, Hypocalcemic tetany, Hypocalcemia, Irritabili... ORPHA:36913
Congenital Tufting Enteropathy
Cataract, Optic disc coloboma, Irritability, Punctate keratitis, Corneal erosion ORPHA:92050
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Cataract ORPHA:2715
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Memory impairment, Abnormal optic nerve morphology, Epiretinal me... ORPHA:637
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Developmental cataract, Vitreous hemorrhage, Remnants o... OMIM:620185
Amyloidosis, Finnish Type
Cataract, Optic neuropathy, Lattice corneal dystrophy OMIM:105120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Cataract, Peters anomaly, Megalocornea, Elevated circulating creatine kinase conce... OMIM:236670
Usher Syndrome
Cataract, Depression, Abnormality of retinal pigmentation, Astigmatism, Cognitive impairment ORPHA:886
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morpho... ORPHA:1571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Retinal dystrophy, Elevated circulating creatine kinase concentration OMIM:616538
Proteus-Like Syndrome
Cataract, Abnormal pupil morphology, Heterochromia iridis, Retinal detachment, Limbal dermoid ORPHA:2969
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Optic atrophy, Memory impairment, Depression, Cataract ORPHA:314404
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Sclerocornea, Iris coloboma, ... OMIM:243605
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Pigmentary retinopathy, Cataract OMIM:610651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Cataract, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Elevated c... OMIM:253280
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Epiretinal membrane, Lisch nodules, Juvenile posterior ... OMIM:101000
Neuroocular Syndrome 1
Cataract, Microcornea, Peters anomaly, Hypoplasia of the fovea, Attention deficit hyperactivity d... OMIM:619539
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Cataract, Elevated circulating alpha-fetoprotein concentration, Hypermethioninem... ORPHA:247598
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Posterior subcapsular cataract, Cataract, Cerulean cataract, Anterior cortical cat... ORPHA:67036
Phace Syndrome
Retinal vascular malformation, Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris ... ORPHA:42775
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Choroidal neovascularization, Macular edema, Posterior synechiae of the anter... ORPHA:91500
Microphthalmia, Syndromic 2
Microcornea, Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract,... OMIM:300166
Osteoporosis-Pseudoglioma Syndrome
Cataract, Vitreoretinopathy, Iris atrophy, Exudative retinopathy, Absent anterior chamber of the ... OMIM:259770
Holoprosencephaly 2
Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter