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Gene: Sarnp MGI:1913368

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Gene Summary

Name:
SAP domain containing ribonucleoprotein
Synonyms:
1110005A23Rik

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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
decreased total retina thickness Sarnptm1b(EUCOMM)Hmgu HET Early adult 3.11×10-05
increased startle reflex Sarnptm1b(EUCOMM)Hmgu HET Early adult 2.51×10-07
preweaning lethality, complete penetrance Sarnptm1b(EUCOMM)Hmgu HOM   Early adult 0.000317
abnormal lens morphology Sarnptm1b(EUCOMM)Hmgu HET Early adult 6.88×10-05
increased mean corpuscular hemoglobin Sarnptm1b(EUCOMM)Hmgu HET Early adult 6.70×10-05
cataract Sarnptm1b(EUCOMM)Hmgu HET   Early adult 3.49×10-05
abnormal vitreous body morphology Sarnptm1b(EUCOMM)Hmgu HET Early adult 4.03×10-05
abnormal retina morphology Sarnptm1b(EUCOMM)Hmgu HET Early adult 4.18×10-06

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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.

X-ray

XRay Images Whole Body Dorso Ventral

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Electrocardiogram (ECG)

Waveform Image

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Human diseases caused by Sarnp 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 Sarnp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract, Tremor OMIM:165300
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Coats Disease
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... ORPHA:190
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
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 40
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:613801
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration OMIM:614292
Cataract 21, Multiple Types
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Aniridia 3
Cataract OMIM:617142
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... OMIM:193230
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... OMIM:212550
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration OMIM:618195
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Retinal dystrophy, Ir... ORPHA:231736
Spastic Paraparesis And Deafness
Tremor, Cataract OMIM:312910
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Shallow anterior chamber, Tractional retinal detachment, Retinal exu... OMIM:613310
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Nathalie Syndrome
Cataract ORPHA:2663
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Trichomegaly
Cataract OMIM:190330
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract, Optic nerve dysplasia OMIM:246000
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... OMIM:251270
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:601813
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Retinal Dystrophy And Obesity
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Astigmatism, Peripapil... OMIM:616188
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Vacuolated lymphocytes, Optic atr... OMIM:204200
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma OMIM:157151
Retinitis Pigmentosa 86
Cystoid macular edema, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618613
Galactosemia Iv
Cataract OMIM:618881
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:617304
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract OMIM:273680
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... OMIM:305390
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... OMIM:312600
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Galactosemia Ii
Cataract OMIM:230200
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Shallow anterior chamber, Retinal degeneration, Macular atrophy OMIM:267760
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Leber Congenital Amaurosis 1
Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fundus atrophy, ... OMIM:204000
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Intention tremor, Pigmentary retinopathy, Tremor, Cataract OMIM:614307
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Isolated Aniridia
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc colob... OMIM:120200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy OMIM:601794
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Geograp... OMIM:180105
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy OMIM:263100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... OMIM:612572
Leber Congenital Amaurosis
Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy ORPHA:363741
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract, Retinal dystrophy OMIM:613763
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Retinitis Pigmentosa 56
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... OMIM:613581
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Developmental cataract, Ocular anterior segment dysgenesis ORPHA:324416
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract OMIM:616722
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Enhanced S-Cone Syndrome
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Cataract, Retinoschisis OMIM:268100
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... ORPHA:39044
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy OMIM:268050
Nathalie Syndrome
Cataract OMIM:255990
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Posterior subcap... OMIM:602772
Autosomal Recessive Stickler Syndrome
Retinal detachment, Cataract, Vitreoretinopathy, Astigmatism ORPHA:250984
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... ORPHA:67043
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Intermediate Uveitis
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Cataract, Epiretinal memb... ORPHA:279914
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Chorioretinal... ORPHA:414
Retinitis Pigmentosa 74
Optic disc pallor, Posterior polar cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Rod-cone dystrophy, Intention tremor, Optic atrophy, Cataract OMIM:612674
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Cataract 11, Multiple Types
Cataract OMIM:610623
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Retinal thinning, Cataract, Asteroid hyalosis OMIM:132450
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... OMIM:613810
Cataract 47
Cataract, Microcornea OMIM:612018
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Astigmatism, Cata... OMIM:615986
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... OMIM:612109
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy OMIM:614879
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Abnormal vitreous humor morphology OMIM:604841
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... OMIM:152950
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Keratoc... ORPHA:791
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Stickler Syndrome Type 1
Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Congenital Rubella Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Splenomegaly, Thrombocytopenia, Cataract, A... ORPHA:290
Achondrogenesis Type 2
Retinal detachment, Lens subluxation, Cataract, Abnormal vitreous humor morphology ORPHA:93296
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Woolly Hair
Abnormal retinal morphology, Abnormal pupil morphology, Cataract ORPHA:170
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Wolfram Syndrome 1
Megaloblastic anemia, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy, Tremor, Cataract, ... OMIM:222300
Nance-Horan Syndrome
Retinal detachment, Cataract, Microcornea ORPHA:627
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Decreased mean corpuscular volume, Anisocytosis, Retinal... OMIM:616959
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Intention tremor, Tortuosity of conjunctival vessels, Cataract, Macular degeneration ORPHA:284289
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Anisocoria, Cataract, Temporal optic disc pallor OMIM:619649
Idiopathic Panuveitis
Cystoid macular edema, Cataract, Choroidal neovascularization, Epiretinal membrane, Vitreous floa... ORPHA:280921
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... OMIM:106210
Coats Disease
Exudative retinal detachment, Retinal telangiectasia, Leukocoria OMIM:300216
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic... ORPHA:364055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Cataract OMIM:615181
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Srd5A3-Cdg
Rod-cone dystrophy, Optic atrophy, Microcytic anemia, Cataract, Optic disc hypoplasia ORPHA:324737
Antiphospholipid Syndrome, Familial
Keratitis, Iritis, Retinal detachment, Autoimmune thrombocytopenia, Retinal vasculitis, Central r... OMIM:107320
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Pierson Syndrome
Remnants of the hyaloid vascular system, Uveal ectropion, Retinal detachment, Posterior lenticonu... OMIM:609049
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism OMIM:612285
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Proximal Myotonic Myopathy
Cataract ORPHA:606
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Pigment... OMIM:300578
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Pellagra-Like Syndrome
Cataract OMIM:260650
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Posterior Column Ataxia With Retinitis Pigmentosa
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy, ... OMIM:609033
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration OMIM:619780
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigmentation of the ... OMIM:268315
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria ORPHA:2714
Refsum Disease, Classic
Cataract, Retinal degeneration, Rod-cone dystrophy OMIM:266500
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Microphthalmia With Brain And Digit Anomalies
Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Sclerocornea, Chorioretinal coloboma ORPHA:139471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... OMIM:614643
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia ORPHA:848
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hereditary Methemoglobinemia
Methemoglobinemia, Limb dystonia, Athetosis ORPHA:621
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Abnormal pupil morphology, Cystoid macular edema, Corneal stro... ORPHA:209959
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Dystonia, Juvenile-Onset
Leg dystonia, Oculogyric crisis, Cataract, Generalized dystonia OMIM:607371
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Otodental Syndrome
Retinal coloboma, Microcornea, Iris coloboma, Cataract, Lens coloboma ORPHA:2791
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Rod-cone dystrophy, Pigmentary retinopathy, Cataract, Bone spicule pigmentati... ORPHA:88628
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Choreoa... ORPHA:2715
Hyperekplexia 2
Exaggerated startle response, Astigmatism OMIM:614619
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Cataract, Pigmentary retinopathy ORPHA:79095
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Cataract, Microcornea, Retinal dystrophy OMIM:610125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Retinal detachment, Optic atrophy, Cataract, Retinal dysplasia OMIM:253800
Werner Syndrome
Elevated hemoglobin A1c, Cataract, Retinal degeneration OMIM:277700
Proteus-Like Syndrome
Abnormal pupil morphology, Splenomegaly, Retinal detachment, Limbal dermoid, Thymus hyperplasia, ... ORPHA:2969
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Papillorenal Syndrome
Macular degeneration, Lens luxation, Retinal coloboma, Morning glory anomaly, Chorioretinal atrop... OMIM:120330
Knobloch Syndrome
Macular degeneration, Retinal detachment, Vitreoretinopathy, Cataract, Abnormal vitreous humor mo... ORPHA:1571
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Autosomal Dominant Optic Atrophy And Cataract
Anterior cortical cataract, Resting tremor, Cerulean cataract, Posterior subcapsular cataract, Op... ORPHA:67036
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Stromme Syndrome
Optic nerve hypoplasia, Accessory spleen, Microcornea, Peters anomaly, Iris coloboma, Retinal vas... OMIM:243605
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Norrie Disease
Corneal opacity, Remnants of the hyaloid vascular system, Abnormal pupil morphology, Abnormal ret... ORPHA:649
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Posterior subcapsular cataract, Epiretinal membrane, Ret... ORPHA:637
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Optic atrophy, Cataract, Head tremor, Resting tremor ORPHA:314404
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Opisthotonus OMIM:184850
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Anemia, Abnormal hemoglobin ORPHA:847
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Tay-Sachs Disease
Exaggerated startle response, Laryngeal dystonia, Cherry red spot of the macula, Optic atrophy, T... ORPHA:845
Sandhoff Disease
Hepatosplenomegaly, Exaggerated startle response, Cherry red spot of the macula OMIM:268800
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Abnormality of retinal pigmentation, Cystoid macular edema, Papilledema, Iri... ORPHA:91500
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Exaggerated startle response ORPHA:521426
Lead Poisoning
Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis ORPHA:330015
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Microcornea, Hypoplasia of t... OMIM:619539
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response, Cherry red spot of the macula ORPHA:79255
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:301040
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment, Microcornea, Iris coloboma, Developm... OMIM:300166
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Anemia, Exaggerated startle response, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Sarnp

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 Sarnp.

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

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MGI Allele Allele Type Produced
Sarnptm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Sarnptm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sarnptm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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