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Gene: Gucy1a1 MGI:1926562

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
guanylate cyclase 1, soluble, alpha 1
Synonyms:
Gucy1a3,  alpha 1 sGC,  sGC-alpha1,  1200016O07Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Gucy1a1 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.

The table below shows human diseases associated to Gucy1a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Hypertension, Raynaud phenomenon, Thrombocytopenia ORPHA:401945
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon, Thrombocytopenia OMIM:615750

The table below shows human diseases predicted to be associated to Gucy1a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Increased cup-to-disc ratio, Ocular hypertension, Megalocornea OMIM:617272
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced... OMIM:173590
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP... OMIM:618462
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induc... OMIM:619267
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... ORPHA:179
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Hypertension, Raynaud phenomenon, Thrombocytopenia ORPHA:401945
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:187950
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Glanzmann Thrombasthenia 1
Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-IIIa, Subdural hemorr... OMIM:273800
Glaucoma 1, Open Angle, F
Ocular hypertension, Increased cup-to-disc ratio OMIM:603383
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephri... OMIM:615888
Megalocornea
Cataract, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retinal detachment, Abnormal... OMIM:309300
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Abnormal platelet count, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614009
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Abnormal platelet count, Impaired ristocetin-induced platelet aggregation, Impaired co... OMIM:614201
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Neovascular Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Retino... ORPHA:94058
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Ocular hypertension OMIM:613517
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... OMIM:265400
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Impaired ADP-induced platelet aggregation, Myocardial infarction, Thr... OMIM:155100
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... OMIM:612201
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestrat... ORPHA:70589
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Glaucoma, Primary Closed-Angle
Ocular hypertension, Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Exfoliation Syndrome
Cataract, Mydriasis, Abnormal lens morphology, Phakodonesis, Retinal vein occlusion, Asymmetry of... OMIM:177650
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... OMIM:253700
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Impaired ADP-induced platelet aggregation OMIM:609821
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Spontaneous, recurrent epistaxis, Thrombocytopenia, Ma... OMIM:620486
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Macrothr... OMIM:187800
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Optic disc coloboma, Chorioretinal coloboma, Macular atrophy, Flat cornea, Ocular hy... OMIM:602499
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Joint hemorrhage, Impaired platelet aggregation OMIM:605735
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... OMIM:613876
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Quebec Platelet Disorder
Epistaxis, Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel... ORPHA:39044
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Juvenile Glaucoma
Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art... ORPHA:98977
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Epiretinal me... ORPHA:67042
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, In... ORPHA:324604
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Glaucoma 1, Primary Open Angle, C
Ocular hypertension OMIM:601682
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat... ORPHA:263479
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-in... OMIM:231200
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Gray Platelet Syndrome
Epistaxis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Thr... OMIM:139090
Von Willebrand Disease, Type 3
Epistaxis, Thrombocytopenia, Impaired platelet aggregation, Joint hemorrhage, Prolonged bleeding ... OMIM:277480
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense granule content... OMIM:601399
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial... OMIM:613874
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract, Optic nerve dysplasia OMIM:246000
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Hypertension ORPHA:2111
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules, Spontaneous, recurrent epistaxis OMIM:614072
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Absence of alpha granules, Thrombocytopenia, Macrothrombo... OMIM:187900
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Hypertension, Left atrial enlargement... OMIM:620734
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Trimethylaminuria
Tachycardia, Recurrent pneumonia, Hypertension, Splenomegaly OMIM:602079
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria, Ocular hypertension OMIM:156600
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Impaired platelet aggregation, Joi... OMIM:193400
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-related peptide-induced p... OMIM:153670
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Gastrointestinal hemorrhage, Prolonged bleeding... ORPHA:849
Congenital Fibrinogen Deficiency
Internal hemorrhage, Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Hermansky-Pudlak Syndrome 7
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Recurrent upper respiratory tract infections, Congestive heart failure, Dia... ORPHA:423461
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Corneal opacity, Sclerocornea,... OMIM:269400
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Weill-Marchesani Syndrome 3
Microspherophakia, Ectopia lentis, Ocular hypertension OMIM:614819
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular hypertension, Iris coloboma OMIM:610023
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Neuhauser Syndrome
Hypoplasia of the iris, Megalocornea, Iridodonesis, Retinal detachment, Abnormal intraocular pres... OMIM:249310
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Optic disc ... OMIM:614195
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Retinitis Pigmentosa 46
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod... OMIM:612572
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Adams-Oliver Syndrome 5
Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Ri... OMIM:616028
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Hyperostosis Cranialis Interna
Optic atrophy, Ocular hypertension, Facial palsy OMIM:144755
Truncus Arteriosus
Aortic regurgitation, Pulmonary artery hypoplasia, Abnormal lung lobation, Abnormal heart morphol... ORPHA:3384
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... OMIM:180105
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Hermansky-Pudlak Syndrome 5
Epistaxis, Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Thrombocyto... OMIM:614074
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea... ORPHA:137599
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... OMIM:602772
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:614261
Retinitis Pigmentosa 56
Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ... OMIM:613581
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Opacification of the corneal stroma, Ocular hypertension OMIM:107250
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Aniridia, Corneal opacity, Co... OMIM:610256
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Pulmon... ORPHA:98915
Sympathetic Ophthalmia
Cataract, Macular edema, Posterior synechiae of the anterior chamber, Corneal keratic precipitate... ORPHA:79098
Phacoanaphylactic Uveitis
Macular edema, Posterior synechiae of the anterior chamber, Vitreoretinopathy, Keratitis, Abnorma... ORPHA:209959
Retinitis Pigmentosa 43
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon... OMIM:613810
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Ocular h... OMIM:613195
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular sept... OMIM:613404
Meckel Syndrome, Type 7
Aortic valve stenosis, Hepatosplenomegaly, Situs inversus totalis, Portal hypertension, Atrial se... OMIM:267010
Telangiectasia, Hereditary Hemorrhagic, Type 5
Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis OMIM:615506
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Muscle hemorrhage, Thrombocy... ORPHA:903
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone... OMIM:616469
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... ORPHA:3093
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary lymphangiectasi... OMIM:265380
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex c... OMIM:208085
Hermansky-Pudlak Syndrome 11
Epistaxis, Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopenia,... OMIM:603585
Congenital Microcoria
Iris hypopigmentation, Nuclear cataract, Ocular hypertension, Megalocornea, Astigmatism, Corneal ... ORPHA:566
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi... OMIM:613983
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Spontaneou... ORPHA:274
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation OMIM:300835
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... ORPHA:66529
Cirrhotic Cardiomyopathy
Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p... ORPHA:57777
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Retinoschisis, Optic neuropathy, Chorioretinal atrophy OMIM:615651
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Morgagni diaphragmatic hernia, Atelect... OMIM:613177
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit... ORPHA:364055
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Glaucoma 3, Primary Congenital, A
Ocular hypertension OMIM:231300
Hermansky-Pudlak Syndrome 6
Epistaxis, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:614075
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Peripheral pulmonary artery stenosis, Patent foramen ova... ORPHA:280633
Mgat2-Cdg
Decreased circulating IgG level, Arrhythmia, Impaired platelet aggregation, Decreased circulating... ORPHA:79329
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... ORPHA:2299
Dural Sinus Malformation
Chemosis, Ocular hypertension, Papilledema ORPHA:97339
Hermansky-Pudlak Syndrome 8
Epistaxis, Impaired platelet aggregation OMIM:614077
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon, Thrombocytopenia OMIM:615750
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Impaired ADP-induced platelet aggregation, Absent platelet dens... OMIM:608233
Wagro Syndrome
Cataract, Aniridia, Ocular hypertension, Corneal opacity OMIM:612469
Sitosterolemia 1
Giant platelets, Thrombocytopenia, Impaired platelet aggregation OMIM:210250
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se... ORPHA:466791
Traboulsi Syndrome
Cataract, Ectopia lentis, Ocular hypertension, Phakodonesis, Iris atrophy, Spherophakia, Anterior... OMIM:601552
Renal Coloboma Syndrome
Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma ORPHA:1475
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Impaired platelet adhesion, Intracranial hemorrhage, Thro... ORPHA:324636
Wiskott-Aldrich Syndrome
Vasculitis, Hematochezia, Epistaxis, Recurrent intrapulmonary hemorrhage, Arrhythmia, Abnormal pl... ORPHA:906
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect, Recurrent respirator... OMIM:620186
Musculocontractural Ehlers-Danlos Syndrome
Ocular hypertension, Retinal detachment, Astigmatism ORPHA:2953
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Abnormal lung lobation, Diastasis recti,... OMIM:312870
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Choroidal neovascularization, Macular edema, Posterior synechiae of the anter... ORPHA:91500
Trichorhinophalangeal Syndrome, Type Ii
Recurrent pneumonia, Recurrent upper respiratory tract infections, Bicuspid aortic valve, Myocard... OMIM:150230
1P31P32 Microdeletion Syndrome
Ocular hypertension ORPHA:401986
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... ORPHA:99094
Viss Syndrome
Coronary sinus enlargement, Pulmonary artery aneurysm, Emphysema, Right ventricular hypertrophy, ... OMIM:619472
Nail-Patella Syndrome
Antecubital pterygium, Ocular hypertension, Abnormal iris pigmentation, Lester's sign ORPHA:2614
Chédiak-Higashi Syndrome
Epistaxis, Abnormality of neutrophil physiology, Increased proportion of CD25+ mast cells, Thromb... ORPHA:167
Bartter Syndrome, Type 2, Antenatal
Low-to-normal blood pressure, Impaired platelet aggregation OMIM:241200
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Abnormal platelet function, Hypertension ORPHA:79443
Noonan Syndrome
Hypertrophic cardiomyopathy, Arrhythmia, Abnormal platelet function, Abnormal EKG ORPHA:648
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Ocular hypertension OMIM:610199
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Ocular hypertension ORPHA:93315
Alkaptonuria
Corneal astigmatism, Ocular hypertension ORPHA:56
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired platelet aggregation,... ORPHA:2968

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 Gucy1a1

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 Gucy1a1.

No publications found that use IMPC mice or data for Gucy1a1.

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
Gucy1a1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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