Gene Summary

Name:
plexin A2
Synonyms:
PlexA2,  Plxn2,  2810428A13Rik,  OCT

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
increased mean corpuscular hemoglobin Plxna2tm1a(EUCOMM)Wtsi HOM Early adult 9.63×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

DSS Histology

Images

8 Images

Legacy Phenotype Associated Images

View all 69 images

Human diseases caused by Plxna2 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 Plxna2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Lissencephaly 1
Agyria, Spastic tetraparesis, Gray matter heterotopia, Pachygyria, Cerebellar hypoplasia, Subcort... OMIM:607432
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Spasticity, Periventricular nodular heterotopia OMIM:618185
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Polymicrogyria, Gray matter heterotopia, Cerebellar dysplasia, Cerebe... OMIM:604213
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Microlissencephaly
Hypertonia, Polymicrogyria, Cerebellar atrophy, Subcortical heterotopia, Simplified gyral pattern... ORPHA:1083
Autosomal Spastic Paraplegia Type 30
Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax... ORPHA:101010
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Spastic paraplegia, Cerebellar hypoplasia, Periventricular nodular heterotopia, Inability to walk OMIM:618572
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly, Spastic... OMIM:615411
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Lissencephaly 3
Cerebellar vermis hypoplasia, Polymicrogyria, Agyria, Gray matter heterotopia, Ataxia, Pachygyria... OMIM:611603
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia... ORPHA:94122
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar atrophy, Inability... OMIM:615268
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Truncal ataxia, Ataxia, Cerebellar hypoplasia, Dysmetria OMIM:617584
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tre... OMIM:616053
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Upper limb postural tr... ORPHA:98769
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Spinocerebellar Ataxia 37
Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Ataxia, Gait ataxia OMIM:117210
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypertonia, Periventricular ribbonlike heterotopia, Hypoplasia of the pons, Cerebellar hypoplasia... OMIM:618677
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Ataxia, Inability to walk OMIM:619333
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Spastici... OMIM:619742
Lissencephaly, X-Linked, 1
Spasticity, Agyria, Gray matter heterotopia, Ataxia, Pachygyria, Lissencephaly OMIM:300067
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Pachygyria OMIM:614173
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Intention tremor, Unsteady gait, Ataxi... OMIM:616948
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte adenylate kinase activity, Hemolytic anemia OMIM:612631
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb... ORPHA:276193
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve... ORPHA:284332
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Oculomotor apraxia, Cerebellar vermis hypoplasia, Truncal ataxia, Unsteady gai... OMIM:618273
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Cerebellar atrophy, G... OMIM:604432
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar ataxia associated with quadru... OMIM:224050
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Uns... ORPHA:423275
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cerebellar vermis atrophy, Gait dis... ORPHA:363710
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Spasticity, Agyria, Gray matter heterotopia, Pachygyria ORPHA:1084
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Tetraparesis, Periventricular heterotopia OMIM:608097
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:171703
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Myoclonus OMIM:618876
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... OMIM:616291
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria OMIM:608029
Woronets Trait
Red blood cell keratocytosis OMIM:194320
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo... ORPHA:314978
Joubert Syndrome 24
Polymicrogyria, Spasticity, Gait disturbance, Ataxia, Pachygyria, Cerebellar hypoplasia, Dysmetria OMIM:616654
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Cerebellar atrophy, Gait d... ORPHA:98762
Spastic Paraplegia 30, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Cerebellar atrophy, Spastic paraplegia, Ataxi... OMIM:610357
Symmetrical Thalamic Calcifications
Ataxia, Abnormality of neuronal migration, Hypertonia, Spasticity ORPHA:1314
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ... OMIM:616127
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Gait ataxia, Unsteady gait,... OMIM:615386
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ataxia OMIM:618709
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Polymicrogyria, Spastic tetraparesis, Gray matter heterotopia, Abnormality of neurona... OMIM:604317
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia, Unsteady gait ORPHA:284271
Spinocerebellar Ataxia Type 26
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Pr... ORPHA:101112
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Cerebellar hypoplasia, Type II lissencephaly, Gray matter heterotopia ORPHA:352682
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Spinocerebellar Ataxia 44
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Frequent falls, Gait ataxia, Ataxia, Dysmetria OMIM:617691
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Oculomotor apraxia, Incoordination, Truncal ataxia, Dysdiadochokinesis, Cerebellar... OMIM:616204
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Spinocerebellar Ataxia 4
Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Cerebellar atrophy, Limb... OMIM:600223
Band Heterotopia
Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral ventricle dilatatio... OMIM:600348
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)
Babinski sign, Hypertonia, Broad-based gait, Truncal ataxia, Frontal polymicrogyria, Hypoplasia o... OMIM:606854
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc... OMIM:617633
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Spinocerebellar Ataxia 49
Babinski sign, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Cerebellar atrop... OMIM:619806
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Fas... ORPHA:98756
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Truncal ataxia, Cerebellar vermis atrophy, Cerebellar atrophy, Gait disturbance, Ataxia OMIM:614229
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Cerebellar atrophy, Gray matter heterotopia, Hypoplasia of the pons, Perisylvian ... ORPHA:300573
Spinocerebellar Ataxia 26
Limb ataxia, Truncal ataxia, Incoordination, Cerebellar atrophy, Gait ataxia OMIM:609306
Poretti-Boltshauser Syndrome
Cerebellar cyst, Oculomotor apraxia, Cerebellar vermis hypoplasia, Gray matter heterotopia, Dilat... OMIM:615960
Lissencephaly 5
Cerebellar vermis hypoplasia, Type II lissencephaly, Cerebellar hemisphere hypoplasia, Gray matte... OMIM:615191
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Hypertonia ORPHA:2216
Spinocerebellar Ataxia Type 29
Oculomotor apraxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Intention ... ORPHA:208513
Lissencephaly 6 With Microcephaly
Limb hypertonia, Polymicrogyria, Microlissencephaly, Spasticity, Cerebellar atrophy, Simplified g... OMIM:616212
Congenital Muscular Dystrophy Without Intellectual Disability
Tip-toe gait, Cerebellar cyst, Difficulty walking, Cerebellar atrophy, Gray matter heterotopia, F... ORPHA:370980
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Truncal ataxia, Frequent falls, Gait ataxia, Intention tremor, Dilated fourth v... OMIM:620208
Spinocerebellar Ataxia 5
Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Upper motor neuron dysfunction... OMIM:600224
Joubert Syndrome 30
Polymicrogyria, Dandy-Walker malformation, Cerebellar atrophy, Gray matter heterotopia, Agenesis ... OMIM:617622
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Spinocerebellar Ataxia Type 19/22
Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, Trunca... ORPHA:98772
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Peri... OMIM:616171
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Cerebellar atrophy, Gait atax... OMIM:609270
Leber Congenital Amaurosis
Hemiplegia/hemiparesis, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar v... ORPHA:65
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Babinski sign, Abnormality of neuronal migration, Pachygyria, Cerebellar hypoplasia OMIM:608840
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Brain Small Vessel Disease 2
Spastic tetraplegia, Polymicrogyria, Subcortical heterotopia, Hemiplegia OMIM:614483
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Spastic Paraplegia 39, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Gait disturbance, Ataxia, Progressive spastic paraplegia OMIM:612020
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor, Gray matter heterotopia OMIM:231950
Hemimegalencephaly
Polymicrogyria, Gray matter heterotopia, Hemiparesis, Abnormal neuron morphology, Pachygyria, Myo... ORPHA:99802
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:2512
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Cerebellar vermis hypoplasia, Spasticity, Tremor, Gait disturbance, Abnor... OMIM:300957
Acalvaria
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum ORPHA:945
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Cerebral Palsy, Spastic Quadriplegic, 3
Spasticity, Gray matter heterotopia, Abnormal pyramidal sign, Spastic tetraplegia, Spastic diplegia OMIM:617008
Periventricular Nodular Heterotopia 1
Cerebellar hypoplasia, Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Cerebellar atrophy, Abnormality of neuronal migration, 4-layered lissencephal... ORPHA:89844
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Limb myoclonus, Gait disturbance, Cerebellar atrophy, Ataxia, Clumsiness, Perivent... ORPHA:352582
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Polymicrogyria, Type II lissencephaly, Gray matter heterotopia, Clonus, Dilated ... ORPHA:370959
Subependymal Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Gray ... ORPHA:101030
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Chiari Malformation Type Ii
Chiari malformation, Ataxia, Gray matter heterotopia, Opisthotonus OMIM:207950
Beta-Thalassemia
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia ORPHA:848
Pyruvate Dehydrogenase E1-Beta Deficiency
Cerebellar hypoplasia, Periventricular heterotopia, Ataxia, Pachygyria ORPHA:255138
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum ORPHA:2772
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Neurocutaneous Melanocytosis
Dandy-Walker malformation, Hemiparesis, Abnormality of neuronal migration, Chiari malformation, A... ORPHA:2481
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Joubert Syndrome
Oculomotor apraxia, Cerebellar vermis hypoplasia, Polymicrogyria, Tremor, Gait disturbance, Abnor... ORPHA:475
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Hypertonia, Aplasia/Hypoplasia of the cerebellum ORPHA:2518
Tetrasomy 18P
Abnormality of neuronal migration, Gait disturbance ORPHA:3307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Agyria, Dandy-Walker malformation, Gray matter heterotopia... OMIM:614643
Walker-Warburg Syndrome
Abnormal cortical gyration, Cerebellar hypoplasia, Polymicrogyria, Dandy-Walker malformation, Abn... ORPHA:899
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Cerebellar vermis atrophy, Cerebral palsy, Abnormality of neuronal migrati... ORPHA:163681
Periventricular Nodular Heterotopia 7
Polymicrogyria, Periventricular nodular heterotopia, Ataxia, Gray matter heterotopia OMIM:617201
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Limb hypertonia, Oromotor apraxia, Lower limb sp... ORPHA:98889
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Developmental Delay With Variable Neurologic And Brain Abnormalities
Spasticity, Gray matter heterotopia OMIM:619694
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Difficulty walking, Chiari type I malformation, Dandy-Walker malformation, Spasticity, Rigidity, ... OMIM:618476
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:617397
Orofaciodigital Syndrome Xvi
Inability to walk, Ataxia, Gray matter heterotopia, Oculomotor apraxia OMIM:617563
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hypertonia ORPHA:1895
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Polymicrogyria, Hypothalamic hamartoma, Gray matter heterotopia, Pa... OMIM:619775
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Ataxia ORPHA:2318
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Man1B1-Cdg
Resting tremor, Cerebellar hypoplasia, Periventricular heterotopia, Broad-based gait ORPHA:397941
Alkuraya-Kucinskas Syndrome
Oculomotor apraxia, Dandy-Walker malformation, Gray matter heterotopia, Cerebellar dysplasia, Cer... OMIM:617822
Joubert Syndrome With Hepatic Defect
Oculomotor apraxia, Cerebellar vermis hypoplasia, Tremor, Gait disturbance, Abnormality of neuron... ORPHA:1454
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Vici Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:1493
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Dandy-Walker malformation, Abnormality of neuronal mi... ORPHA:2671
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lis... OMIM:615219
Alg11-Cdg
Hypertonia, Limb hypertonia, Gray matter heterotopia, Ataxia, Opisthotonus ORPHA:280071
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Beta-Thalassemia Intermedia
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S... ORPHA:231222
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Desmosterolosis
Hypertonia, Abnormal cortical gyration, Polymicrogyria, Spasticity, Abnormality of neuronal migra... ORPHA:35107
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Agen... ORPHA:157
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
6Q Terminal Deletion Syndrome
Polymicrogyria, Gray matter heterotopia, Gait ataxia, Abnormality of neuronal migration, Cerebell... ORPHA:75857
Galloway-Mowat Syndrome
Hemiplegia/hemiparesis, Abnormality of neuronal migration, Hypertonia, Pachygyria ORPHA:2065
Galloway-Mowat Syndrome 1
Dandy-Walker malformation, Spasticity, Cerebellar atrophy, Abnormality of neuronal migration, Ata... OMIM:251300
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Coffin-Lowry Syndrome
Hypertonia, Progressive spasticity, Gait disturbance, Abnormality of neuronal migration, Aplasia/... ORPHA:192
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231214
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Hypertonia, Cerebellar vermis hypoplasia, Frontal polymicrogyria, Gray matter heterotopia, Pachyg... OMIM:620024
Radio-Tartaglia Syndrome
Gait imbalance, Tremor, Ataxia, Gray matter heterotopia OMIM:619312
3C Syndrome
Dandy-Walker malformation, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum ORPHA:7
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Tremor, Gait disturbance, Abnormality of neuronal migration, Ataxia ORPHA:2754
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypertonia, Hyperkinetic movements, Polymicrogyria, Spasticity, Cerebellar atrophy, Hypoplasia of... ORPHA:468631
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2211
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Agen... ORPHA:228308
9Q21.13 Microdeletion Syndrome
Difficulty walking, Gray matter heterotopia ORPHA:531151
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation OMIM:614105
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Ataxia, Cerebral palsy OMIM:619833
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Interhypothalamic adhesion, Agenesis of corpus callosum OMIM:618929
Holoprosencephaly 14
Dandy-Walker malformation, Cerebellar atrophy, Gray matter heterotopia, Partial absence of cerebe... OMIM:619895
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Ataxia, Gray matter heterotopia ORPHA:314679
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Pachygyria, Subcortical band heterotopia, Peri... OMIM:601390
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Spasticity, Gray matter heterotopia OMIM:618797
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum OMIM:608836
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia, Lower limb spasticity OMIM:620475
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Peroxisome Biogenesis Disorder 13A (Zellweger)
Polymicrogyria, Gray matter heterotopia OMIM:614887
Aicardi Syndrome
Cerebellar vermis hypoplasia, Polymicrogyria, Dandy-Walker malformation, Gray matter heterotopia,... OMIM:304050
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:261236
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Miller-Dieker Lissencephaly Syndrome
Agyria, Gray matter heterotopia, Pachygyria, Lissencephaly, Progressive spastic paraplegia OMIM:247200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Spasticity, Type II lissencephaly, Cerebellar hemisphere hypoplasia, G... OMIM:615287
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Bohring-Opitz Syndrome
Dandy-Walker malformation, Gray matter heterotopia, Agenesis of corpus callosum OMIM:605039
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gray matter heterotopia ORPHA:26791
Arima Syndrome
Cerebellar vermis hypoplasia, Gray matter heterotopia, Dilated fourth ventricle, Ataxia, Agenesis... OMIM:243910
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Gray matter heterotopia, Frequent falls, Loss of ambulation, Unsteady gait OMIM:214100
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Holoprosencephaly
Chorea, Dandy-Walker malformation, Spasticity, Abnormality of neuronal migration, Aplasia/Hypopla... ORPHA:2162
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Periventricular Nodular Heterotopia 9
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia, Broad-based gait OMIM:618918
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Polymicrogyria, Gray matter heterotopia, Colpocephaly, Agenesis of co... OMIM:618820
Van Maldergem Syndrome 2
Subcortical band heterotopia, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615546
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Orofaciodigital Syndrome I
Cerebellar cyst, Abnormal cortical gyration, Hypothalamic hamartoma, Gray matter heterotopia, Age... OMIM:311200
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Cerebellar vermis hypoplasia, Gray matter heterotopia OMIM:620654
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly ORPHA:261250
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618733
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Cerebellar vermis hypoplasia, Polymicrogyria, Microlissencephaly, Gra... OMIM:210710
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Gait disturbance ORPHA:464311
Vici Syndrome
Cerebellar vermis hypoplasia, Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Impaired pain sensation, Gray matter heterotopia ORPHA:453499
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Gray matter heterotopia OMIM:305450
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Gray matter heterotopia, Agenesis of corpus callosum, Retroc... OMIM:603671
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Polymicrogyria, Dandy-Walker malformation, Simplified gyral pattern... OMIM:615948
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Impaired pain sensation, Inability to walk, Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Impaired pain sensation, Inability to walk, Gray matter heterotopia ORPHA:352665
Fontaine Progeroid Syndrome
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Periventricular heterotopia, Gray matter het... OMIM:612289
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Hydrolethalus Syndrome 1
Dandy-Walker malformation, Abnormal cortical gyration, Gray matter heterotopia, Agenesis of corpu... OMIM:236680
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Smith-Lemli-Opitz Syndrome
Chiari type I malformation, Dandy-Walker malformation, Cerebellar atrophy, Colpocephaly, Perivent... OMIM:270400
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dandy-Walker malformation, Periventricular heterotopia, Partial agenesi... ORPHA:434179
Alkaptonuria
Hemolytic anemia, Methemoglobinemia ORPHA:56
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Enlarged cerebellum, Inability to walk, Chiari type I malformation, Broad-based gait, Impaired pa... ORPHA:261537
Genitopatellar Syndrome
Pachygyria, Periventricular heterotopia, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Mowat-Wilson Syndrome
Enlarged cerebellum, Inability to walk, Broad-based gait, Impaired pain sensation, Polymicrogyria... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Enlarged cerebellum, Inability to walk, Chiari type I malformation, Broad-based gait, Impaired pa... ORPHA:261552
Proteus Syndrome
Gray matter heterotopia ORPHA:744

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 Plxna2

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 Plxna2.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Plxna2tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Plxna2tm1a(EUCOMM)Wtsi