Gene Summary

Name:
sorting nexin 13
Synonyms:
RGS-PX1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular volume Snx13tm1b(EUCOMM)Hmgu HET Early adult 7.34×10-05
preweaning lethality, complete penetrance Snx13tm1b(EUCOMM)Hmgu HOM   Early adult 0.000134
increased leukocyte cell number Snx13tm1b(EUCOMM)Hmgu HET Early adult 2.03×10-07

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Snx13 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 Snx13 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Placental Insufficiency
Small placenta, Intrauterine growth retardation, Abnormal placenta morphology, Abnormal umbilical... ORPHA:439167
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity OMIM:612631
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta, Intrauterine growth retardation, Severe intrauterine growth retardation ORPHA:73272
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Intrauterine growth retardation, Oligohydramnios ORPHA:397590
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Fetal Akinesia Deformation Sequence 1
Small placenta, Intrauterine growth retardation, Increased nuchal translucency, Short umbilical c... OMIM:208150
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Decreased... OMIM:256520
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Schisis Association
Anencephaly, Encephalocele, Spina bifida, Premature birth ORPHA:63862
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis ORPHA:98827
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Intrauterine growth retardation, Large placenta, Umbilical hernia ORPHA:254528
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Restrictive Dermopathy
Small placenta, Intrauterine growth retardation, Large placenta, Short umbilical cord, Decreased ... ORPHA:1662
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida OMIM:207950
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Congenital Syphilis
Intrauterine growth retardation, Large placenta, Hydrocephalus, Hydrops fetalis, Premature birth ORPHA:499009
Wildervanck Syndrome
Meningocele ORPHA:3456
Humero-Radial Synostosis
Meningocele ORPHA:3265
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia ORPHA:2169
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Ho... ORPHA:1908
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly OMIM:611134
Meckel Syndrome, Type 2
Intrauterine growth retardation, Meningocele, Anencephaly, Encephalocele OMIM:603194
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia ORPHA:514
Mosaic Trisomy 16
Intrauterine growth retardation, Large placenta, Single umbilical artery, Premature birth ORPHA:1708
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Greenberg Dysplasia
Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Neonatal death, Stillbi... OMIM:215140
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Trichohepatoenteric Syndrome 1
Polyhydramnios, Intrauterine growth retardation, Large placenta, Abnormalities of placenta or umb... OMIM:222470
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... ORPHA:811
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Anal Fistula
Leukocytosis ORPHA:228113
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Triploidy
Intrauterine growth retardation, Hydrocephalus, Polyhydramnios, Meningocele, Holoprosencephaly ORPHA:3376
Meckel Syndrome, Type 1
Occipital encephalocele, Intrauterine growth retardation, Large placenta, Oligohydramnios, Breech... OMIM:249000
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Thickened nuchal skin fold, Spina bifida occulta ORPHA:2437
Autosomal Recessive Spondylocostal Dysostosis
Spina bifida occulta, Meningocele, Intrauterine growth retardation, Umbilical hernia ORPHA:2311
Restrictive Dermopathy 1
Premature rupture of membranes, Spontaneous chorioamniotic separation, Intrauterine growth retard... OMIM:275210
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Amish Lethal Microcephaly
Spina bifida, Decreased fetal movement ORPHA:99742
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Joubert Syndrome 14
Hydrocephalus, Meningocele, Encephalocele OMIM:614424
Neu-Laxova Syndrome 2
Polyhydramnios, Intrauterine growth retardation, Spina bifida, Decreased fetal movement OMIM:616038
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Polyhydramnios, ... ORPHA:63259
Limb Body Wall Complex
Amniotic constriction ring, Myelomeningocele, Abnormal insertion of umbilical cord, Encephalocele... ORPHA:2369
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Fliedner-Zweier Syndrome
Meningocele OMIM:620511
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Meningocele ORPHA:1393
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Intrauterine growth retardation, Large placenta, Polyhydramnios, Premature birth ORPHA:96334
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Oligohydramnios, Decreased fetal movement, Hydrocephalus, Spina bifida OMIM:613776
Pelvis-Shoulder Dysplasia
Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia ORPHA:2789
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Umbilical hernia, Large placenta, Polyhydramnios, Premature birth ORPHA:116
Vacterl With Hydrocephalus
Intrauterine growth retardation, Hydrocephalus, Spina bifida, Single umbilical artery, Polyhydram... ORPHA:3412
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Umbilical hernia OMIM:130720
Mosaic Trisomy 9
Intrauterine growth retardation, Oligohydramnios, Spina bifida, Single umbilical artery, Polyhydr... ORPHA:99776
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Neu-Laxova Syndrome
Polyhydramnios, Intrauterine growth retardation, Spina bifida, Decreased fetal movement ORPHA:2671
Trisomy 18
Intrauterine growth retardation, Oligohydramnios, Spina bifida, Holoprosencephaly, Anencephaly ORPHA:3380
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Polyhydramnios, Hydrops fetalis, Anencephaly OMIM:616546
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele ORPHA:397715
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia ORPHA:2092
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Digital constriction ring, Meningocele ORPHA:1010
Nail-Patella Syndrome
Spina bifida OMIM:161200
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele, Hydrops fetalis ORPHA:2879
Fibular Hemimelia
Spina bifida ORPHA:93323
Pagod Syndrome
Meningocele, Encephalocele, Spina bifida ORPHA:991
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Vater/Vacterl Association
Occipital encephalocele, Intrauterine growth retardation, Spina bifida, Single umbilical artery, ... OMIM:192350
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Jacobsen Syndrome
Intrauterine growth retardation, Spina bifida, Premature birth ORPHA:2308
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Fanconi Anemia
Umbilical hernia, Intrauterine growth retardation, Oligohydramnios, Hydrocephalus, Spina bifida ORPHA:84
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
22Q11.2 Deletion Syndrome
Umbilical hernia, Intrauterine growth retardation, Hydrocephalus, Spina bifida, Polyhydramnios, M... ORPHA:567
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida ORPHA:508498
Campomelic Dysplasia
Polyhydramnios, Hydrocephalus, Spinal dysraphism, Spina bifida OMIM:114290
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia, Brain a... ORPHA:97214
Aicardi Syndrome
Spina bifida OMIM:304050
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Fetal pyelectasis, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Fetal pyelectasis, Spina bifida ORPHA:363958
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Occipital meningocele OMIM:267750
Cutis Laxa, Autosomal Recessive, Type Ib
Oligohydramnios, Spina bifida, Neonatal death OMIM:614437
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Arima Syndrome
Occipital meningocele OMIM:243910
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Spina bifida occulta, Spina bifida OMIM:180849
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Stillbirth, Spina bifida, Umbilical hernia OMIM:304120
Femoral-Facial Syndrome
Encephalocele, Spina bifida, Premature birth OMIM:134780
Holoprosencephaly 9
Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus OMIM:610829
Marfan Syndrome
Meningocele ORPHA:558
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820

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 Snx13

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 Snx13.

No publications found that use IMPC mice or data for Snx13.

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MGI Allele Allele Type Produced
Snx13tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Snx13tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Snx13tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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