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Gene: Ttc39c MGI:1919997

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Gene Summary

Name:
tetratricopeptide repeat domain 39C
Synonyms:
2810439F02Rik,  1700008N02Rik

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
increased erythrocyte cell number Ttc39cem1(IMPC)J HOM   Early adult 7.70×10-05
increased hematocrit Ttc39cem1(IMPC)J HOM Early adult 9.93×10-05
decreased bone mineral density Ttc39cem1(IMPC)J HOM Early adult 3.99×10-05
irregularly shaped pupil Ttc39cem1(IMPC)J HOM   Early adult 3.54×10-05
increased total body fat amount Ttc39cem1(IMPC)J HOM Early adult 3.22×10-05

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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.

Combined SHIRPA and Dysmorphology

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Electrocardiogram (ECG)

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Human diseases caused by Ttc39c 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 Ttc39c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Ectopia pupillae, Inguinal hernia, Corneal dystrophy OMIM:609141
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Myopathy, Tubular Aggregate, 1
Flexion contracture, Abnormal pupil morphology, Joint contracture OMIM:160565
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis OMIM:237800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal dental enamel morphology, Abnormal pupil morpholog... ORPHA:3163
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Abcd Syndrome
Polycythemia OMIM:600501
Poems Syndrome
Polycythemia, Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Splenomega... ORPHA:2905
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... OMIM:611490
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Subcutaneous lipoma, Abnormal pupil morphology, Hyperostosis, Splen... ORPHA:2969
Isolated Ectopia Lentis
Cataract, Joint stiffness, Ectopia lentis, Ectopia pupillae ORPHA:1885
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Ectopia Pupillae
Ectopia pupillae OMIM:129750
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... OMIM:231095
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Facial Spasm
Anisocoria OMIM:134300
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Anemia of inadequate production, Reticulocytosis OMIM:224100
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis, Myelofibrosis ORPHA:729
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Livedoid Vasculopathy
Polycythemia, Atrophic scars, Pancytopenia, Leukocytosis, Anemia ORPHA:542643
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Alexander Disease
Microcoria OMIM:203450
Down Syndrome
Keratoconus, Cataract, Polycythemia, Umbilical hernia, Acute megakaryocytic leukemia, Joint hyper... ORPHA:870
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic anemia, Reduced erythr... OMIM:235700
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Spherocytosis, Type 4
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis OMIM:612653
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... OMIM:106210
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Fumarase Deficiency
Conjunctival icterus, Polycythemia, Reduced subcutaneous adipose tissue OMIM:606812
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Nephronophthisis 11
Anemia, Anisocoria OMIM:613550
Familial Dysautonomia
Osteolysis, Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Recurrent fractures... ORPHA:1764
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, ... OMIM:259720
Spherocytosis, Type 1
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis OMIM:182900
Coats Disease
Leukocoria OMIM:300216
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... ORPHA:91500
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... OMIM:180500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Joint stiffness, Irido... OMIM:613195
Duane Retraction Syndrome
Microcornea, Chorioretinal coloboma, Central heterochromia, Aniridia, Abnormal pupil morphology, ... ORPHA:233
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Dec... OMIM:266200
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Increase... OMIM:194380
Revesz Syndrome
Aplastic anemia, Megalocornea, Macrocytic anemia, Leukocoria, Neutropenia OMIM:268130
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis OMIM:266120
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Ectopia pupillae, Astigmatism, Scarring alopecia of scalp, Enamel hypoplasia OMIM:618727
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Atypical scarring of skin, Osteomalacia, Abnormal dental enamel morphology... ORPHA:534
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Charcot-Marie-Tooth Disease Type 1E
Joint contracture of the hand, Abnormal pupil morphology, Anisocoria ORPHA:90658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Congenital contracture, Peters anomaly, Buphthalmos, Persistent pupillary membrane OMIM:613150
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia ORPHA:309854
Ogden Syndrome
Polycythemia, Umbilical hernia, Inguinal hernia, Iron deficiency anemia, Thrombocytopenia, Minima... OMIM:300855
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Von Hippel-Lindau Syndrome
Polycythemia OMIM:193300
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Harderoporphyria
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:618892
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Hemolytic anemia, Reticulocytosis OMIM:232800
Hereditary Spherocytosis
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... ORPHA:822
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Ectopia pupillae, Contracture of the proximal interphalangeal joint o... OMIM:618223
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane OMIM:257850
Hereditary Elliptocytosis
Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Reticulocytosis, Sp... ORPHA:288
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Miller Fisher Syndrome
Mydriasis, Anisocoria ORPHA:98919
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Beckwith-Wiedemann Syndrome
Polycythemia, Umbilical hernia, Splenomegaly, Congenital diaphragmatic hernia, Inguinal hernia, C... ORPHA:116
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Joint hypermobility ORPHA:2714
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Abnormality of neutrophil physiology, Polycythemia, Osteomyelitis, Leuk... ORPHA:2968
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Joint stiffness, Corneal opacity, Ectopia pupillae OMIM:608940
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Retinoblastoma
Cellulitis, Hypopyon, Heterochromia iridis, Leukocoria, Leukemia, Uveitis ORPHA:790
Congenital Fibrosis Of Extraocular Muscles
Cataract, Anisocoria, Abnormal pupil shape ORPHA:45358
Von Hippel-Lindau Disease
Polycythemia ORPHA:892
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Joint hypermobility, Iris transillumination defect, Cort... OMIM:267750
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Congenital Erythropoietic Porphyria
Osteopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Incre... ORPHA:79277
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... OMIM:175780
Iatrogenic Botulism
Mydriasis ORPHA:254509
Wound Botulism
Mydriasis ORPHA:178475
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Inhalational Botulism
Mydriasis ORPHA:254504
Trichinellosis
Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology, Anisocoria ORPHA:863
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Reduced bone mineral density ORPHA:1556
Scalp-Ear-Nipple Syndrome
Cataract, Multiple lipomas, Developmental cataract, Anisocoria, Iris coloboma OMIM:181270
Telangiectasia, Hereditary Hemorrhagic, Type 2
Anemia, Choriocapillaris atrophy, Polycythemia, Conjunctival telangiectasia OMIM:600376
Botulism
Mydriasis ORPHA:1267
Foodborne Botulism
Mydriasis ORPHA:228371
Retinoblastoma
Leukemia, Leukocoria OMIM:180200
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
Pituitary Apoplexy
Mydriasis, Normochromic anemia ORPHA:95613
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria OMIM:615510
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:274150
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... ORPHA:649
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria, Inguinal hernia OMIM:618653
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:235400
Charcot-Marie-Tooth Disease Type 4C
Anisocoria ORPHA:99949
Wolf-Hirschhorn Syndrome
Accessory spleen, Ectopia pupillae, Rieger anomaly, Radioulnar synostosis, Abnormal sternal ossif... OMIM:194190
Telangiectasia, Hereditary Hemorrhagic, Type 1
Anemia, Conjunctival telangiectasia, Polycythemia OMIM:187300
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria ORPHA:79138
Serotonin Syndrome
Mydriasis ORPHA:43116
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol... ORPHA:3261
Superficial Siderosis
Anisocoria ORPHA:247245
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
Sponastrime Dysplasia
Delayed epiphyseal ossification, Cataract, Limited elbow extension, Generalized joint hypermobili... ORPHA:93357
Witteveen-Kolk Syndrome
Cataract, Congenital diaphragmatic hernia, Inguinal hernia, Joint hypermobility, Contracture of t... OMIM:613406
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cataract, Microcornea, Ectopia pupillae, Abnormal pupil morphology, Axenfeld anomaly, Astigmatism... ORPHA:261552
Arachnoid Cyst
Mydriasis ORPHA:2356
Craniotubular Dysplasia, Ikegawa Type
Mydriasis, Sclerosis of skull base, Thin bony cortex OMIM:619727
Vascular Ehlers-Danlos Syndrome
Keratoconus, Cigarette-paper scars, Umbilical hernia, Abnormal pupil morphology, Cystocele, Ingui... ORPHA:286
Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Mowat-Wilson Syndrome
Cataract, Microcornea, Chorioretinal coloboma, Ectopia pupillae, Iris coloboma OMIM:235730
Paroxysmal Nocturnal Hemoglobinuria
Conjunctival icterus, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal ... ORPHA:447
Cocaine Intoxication
Mydriasis ORPHA:90068
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Scorpion Envenomation
Mydriasis ORPHA:466677
Plague
Conjunctival hyperemia, Mydriasis, Splenomegaly, Arthritis ORPHA:707

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 Ttc39c

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 Ttc39c.

No publications found that use IMPC mice or data for Ttc39c.

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MGI Allele Allele Type Produced
Ttc39ctm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ttc39cem1(IMPC)J Exon Deletion Mice
Ttc39ctm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ttc39ctm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ttc39ctm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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