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Gene: Plxna2 MGI:107684

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Gene Summary

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

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 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.

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Legacy Phenotype Associated Images
Plxna2tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Plxna2tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Plxna2tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Plxna2tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Plxna2tm1a(EUCOMM)Wtsi
HOM, Female, WTSI

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
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Spinocerebellar Ataxia 41
Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait OMIM:616410
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Lissencephaly 1
Gray matter heterotopia, Cerebellar hypoplasia, Agyria, Lissencephaly, Spastic tetraparesis, Subc... OMIM:607432
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Spinocerebellar Ataxia Type 30
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia ORPHA:211017
Periventricular Nodular Heterotopia 8
Spasticity, Cerebellar vermis atrophy, Periventricular nodular heterotopia OMIM:618185
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Partial agenesis of the cor... OMIM:604213
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Broad-based gait, Dysdiadochokinesis OMIM:605388
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... ORPHA:101010
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Spastic tetraplegia, Agyria, Lissencephaly, Subcortical band heterotopia... OMIM:615411
Lissencephaly 3
Gray matter heterotopia, Spastic tetraplegia, Agyria, Cerebellar vermis hypoplasia, Lissencephaly... OMIM:611603
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Spinocerebellar Ataxia Type 41
Gait ataxia, Cerebellar vermis atrophy ORPHA:458798
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Spastic paraplegia, Periventricular nodular heterotopia, Inability to walk, Cerebellar hypoplasia OMIM:618572
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 25
Cerebellar hypoplasia, Truncal ataxia, Ataxia, Babinski sign, Dysmetria OMIM:617584
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Cerebellar Ataxia, Cayman Type
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Broad-based gait, Intention tremor, Nonprogre... ORPHA:94122
Spinocerebellar Ataxia 37
Ataxia, Tremor, Frequent falls, Cerebellar atrophy, Unsteady gait OMIM:615945
Cerebellar Ataxia, Cayman Type
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Broad-based gait, Intention tremor OMIM:601238
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Limb ataxia, Spastic gait, Gait ataxia OMIM:617133
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Lissencephaly, X-Linked, 1
Spasticity, Gray matter heterotopia, Agyria, Lissencephaly, Ataxia, Pachygyria OMIM:300067
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Spastic tetraplegia, Cerebellar hypoplasia, Lissencephaly, Periventricular ribbonlike heterotopia... OMIM:618677
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr... ORPHA:101029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy OMIM:616291
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Ataxia, Inability to walk OMIM:619333
Joubert Syndrome 13
Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... OMIM:613908
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Cerebellar atr... OMIM:616948
Spinocerebellar Ataxia 11
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Progressive cerebel... OMIM:604432
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Pontocerebella... ORPHA:423275
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Cerebellar vermis atrophy, Progressive gait ataxia, Clumsiness, Babinski sign, Intent... ORPHA:284332
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Falls, Dysdiadochokinesis, Truncal ataxia... ORPHA:363710
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Inability to walk, Cerebellar hypoplasia, Simplified gyral pattern, ... OMIM:618273
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar ataxia associated with quadrupedal gait, Gait ataxia, Dysdiadochokinesis, Cerebellar h... OMIM:224050
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Spasticity, Gray matter heterotopia, Agyria, Pachygyria ORPHA:1084
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Cerebellar atrophy, Intention tremor, Fascic... OMIM:613728
Spinocerebellar Ataxia Type 23
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... ORPHA:101108
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Tetraparesis, Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar hypoplasia, Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention t... ORPHA:314978
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:171703
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Tremor, Loss of ambulation, Cerebellar atrophy, Unsteady gait OMIM:617917
Spinocerebellar Ataxia Type 35
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Spasticity, Clumsiness, Ataxia, Dysmetria, Cerebellar atrophy, Intention tremor OMIM:608029
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe... ORPHA:98762
Joubert Syndrome 24
Spasticity, Cerebellar hypoplasia, Gait disturbance, Ataxia, Dysmetria, Pachygyria, Polymicrogyria OMIM:616654
Spastic Paraplegia 30, Autosomal Dominant
Ankle clonus, Spastic gait, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, Lower limb spas... OMIM:610357
Symmetrical Thalamic Calcifications
Spasticity, Abnormality of neuronal migration, Ataxia, Hypertonia ORPHA:1314
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ataxia OMIM:618709
Dentatorubral-Pallidoluysian Atrophy
Chorea, Parkinsonism, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis, Ataxia OMIM:125370
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
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
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Cerebellar atrophy, Unsteady gait ORPHA:284271
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria, Cerebellar hypoplasia ORPHA:352682
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Hemiparesis... OMIM:604317
Spinocerebellar Ataxia, Autosomal Recessive 17
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, ... OMIM:616127
Polymicrogyria, Bilateral Frontoparietal
Ankle clonus, Perisylvian polymicrogyria, Cerebellar hypoplasia, Truncal ataxia, Babinski sign, H... OMIM:606854
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Tip-toe gait, Cerebellar cyst, Difficulty walking, Pachygyria, Frequent ... ORPHA:370980
Spinocerebellar Ataxia 4
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... OMIM:600223
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Band Heterotopia
Gray matter heterotopia, Lateral ventricle dilatation, Subcortical band heterotopia, Agenesis of ... OMIM:600348
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb ataxia, Bab... ORPHA:101112
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 18
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Truncal ataxia, Oculomotor apraxia, I... OMIM:616204
Spinocerebellar Ataxia, Autosomal Recessive 26
Gait ataxia, Impaired distal proprioception, Impaired distal vibration sensation, Dysdiadochokine... OMIM:617633
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Spinocerebellar Ataxia 49
Dysdiadochokinesis, Abnormality of extrapyramidal motor function, Ataxia, Babinski sign, Dysmetri... OMIM:619806
Spinocerebellar Ataxia 44
Gait ataxia, Spasticity, Dysdiadochokinesis, Ataxia, Dysmetria, Frequent falls, Cerebellar atrophy OMIM:617691
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar vermis atrophy, Truncal ataxia, Gait disturbance, Limb ataxia, Ataxia, Cerebellar atrophy OMIM:614229
Spinocerebellar Ataxia Type 2
Gait ataxia, Chorea, Abnormal cortical gyration, Postural tremor, Parkinsonism, Cerebellar Purkin... ORPHA:98756
Spinocerebellar Ataxia 29
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Limb ataxia, Broad-based gait, Trunca... OMIM:117360
Spinocerebellar Ataxia 26
Gait ataxia, Truncal ataxia, Limb ataxia, Incoordination, Cerebellar atrophy OMIM:609306
Lissencephaly 5
Gray matter heterotopia, Cerebellar hemisphere hypoplasia, Spastic paraplegia, Type II lissenceph... OMIM:615191
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Gray matter heterotopia, Cerebellar dysplasia, Oculomotor apraxia, Cere... OMIM:615960
Lissencephaly 6 With Microcephaly
Spasticity, Periventricular heterotopia, Limb hypertonia, Simplified gyral pattern, Lissencephaly... OMIM:616212
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Truncal ataxia, Poor coordination, Limb ataxia, Ataxia, S... ORPHA:98772
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the p... OMIM:616171
Spinocerebellar Ataxia 15
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive 7
Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,... OMIM:609270
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Hypertonia ORPHA:2216
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Hemiplegia/hemiparesis, Abnormality of neuronal migr... 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
Glutathionuria
Gray matter heterotopia, Tremor, Action tremor, Dysdiadochokinesis OMIM:231950
Hemimegalencephaly
Gray matter heterotopia, Hemiparesis, Myoclonus, Pachygyria, Abnormal neuron morphology, Polymicr... ORPHA:99802
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Spastic Paraplegia 39, Autosomal Recessive
Progressive spastic paraplegia, Gait disturbance, Ataxia, Babinski sign, Cerebellar atrophy OMIM:612020
Brain Small Vessel Disease 2
Hemiplegia, Subcortical heterotopia, Spastic tetraplegia, Polymicrogyria OMIM:614483
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:945
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Agenesis of corpus callosum, Pachygyria ORPHA:2512
Joubert Syndrome 30
Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Pyropoikilocytosis, Hereditary
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis OMIM:266140
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration, Cerebellar hypoplasia OMIM:300049
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Abnormality of neuronal migration, Abnormal cerebellum morphology, Gait disturbance, ... OMIM:300957
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, 4-layered lissencephaly, Microlissencephaly, Cerebellar atroph... ORPHA:89844
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Cerebral Palsy, Spastic Quadriplegic, 3
Spasticity, Gray matter heterotopia, Abnormal pyramidal sign, Spastic tetraplegia, Spastic diplegia OMIM:617008
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Spinocerebellar Ataxia Type 8
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Rigidity, Spastic dysarthria, Limb ataxia, At... ORPHA:98760
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Blepharospasm, Clumsiness, Gait disturbance, Periventricular nodular heterotopia,... ORPHA:352582
Subependymal Nodular Heterotopia
Gray matter heterotopia, Partial agenesis of the corpus callosum, Abnormality of neuronal migrati... ORPHA:101030
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Congenital Muscular Dystrophy With Cerebellar Involvement
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Gray matter heterotopia, Abnormal... ORPHA:370959
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Chiari Malformation Type Ii
Opisthotonus, Gray matter heterotopia, Chiari malformation, Ataxia OMIM:207950
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2772
Beta-Thalassemia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:848
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Periventricular heterotopia, Pachygyria, Cerebellar hypoplasia ORPHA:255138
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Abnormality of neuronal migration, Hem... ORPHA:2481
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:164180
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Cerebellar hypoplasia, Abnormal ce... ORPHA:899
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Joubert Syndrome
Abnormality of neuronal migration, Oculomotor apraxia, Polymicrogyria, Gait disturbance, Ataxia, ... ORPHA:475
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Hypertonia ORPHA:2518
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Tetrasomy 18P
Gait disturbance, Abnormality of neuronal migration ORPHA:3307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Subcortical heterotopia, Cerebellar hypoplasia, Agyria, Lissencephaly, T... OMIM:614643
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Lissencephaly, Colpocephaly OMIM:615219
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Ataxia, Polymicrogyria OMIM:617201
Cntnap2-Related Developmental And Epileptic Encephalopathy
Cerebellar vermis atrophy, Abnormality of neuronal migration, Cerebral palsy, Ataxia, Lower limb ... ORPHA:163681
Bilateral Perisylvian Polymicrogyria
Spasticity, Cerebellar dysplasia, Abnormality of neuronal migration, Perisylvian predominant thic... ORPHA:98889
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Spasticity, Periventricular heterotopia, Spastic tetraplegia, Cerebellar hypoplasia, Rigidity, At... OMIM:618476
Developmental Delay With Variable Neurologic And Brain Abnormalities
Spasticity, Gray matter heterotopia OMIM:619694
Orofaciodigital Syndrome Xvi
Oculomotor apraxia, Gray matter heterotopia, Ataxia, Inability to walk OMIM:617563
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hypertonia ORPHA:1895
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria, Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:617397
Neu-Laxova Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Cerebellar hypoplasia, Abnormal ce... ORPHA:2671
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Ataxia, Cerebellar vermis hypoplasia ORPHA:2318
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Man1B1-Cdg
Resting tremor, Periventricular heterotopia, Broad-based gait, Cerebellar hypoplasia ORPHA:397941
Desmosterolosis
Spasticity, Abnormality of neuronal migration, Abnormal cortical gyration, Rigidity, Macrogyria, ... ORPHA:35107
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, H... OMIM:619775
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Oculomotor apraxia, Lissenc... OMIM:617822
Vici Syndrome
Gray matter heterotopia, Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:1493
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Oculomotor apraxia, Gait... ORPHA:1454
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Alg11-Cdg
Gray matter heterotopia, Limb hypertonia, Ataxia, Hypertonia, Opisthotonus ORPHA:280071
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F... ORPHA:231222
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Cerebellar vermis hypoplasia, Pachygyria, Agenesis of corpus c... ORPHA:157
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Lissencephaly, Pachygy... ORPHA:2211
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Galloway-Mowat Syndrome
Hemiplegia/hemiparesis, Abnormality of neuronal migration, Pachygyria, Hypertonia ORPHA:2065
6Q Terminal Deletion Syndrome
Gait ataxia, Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migrat... ORPHA:75857
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Progressive spasticity, ... ORPHA:192
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... ORPHA:231226
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Dandy-Walker malformation ORPHA:7
Beta-Thalassemia Major
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... ORPHA:231214
Radio-Tartaglia Syndrome
Gray matter heterotopia, Tremor, Gait imbalance, Ataxia OMIM:619312
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Gait disturbance, Ataxia, Tremor, Cerebellar vermis hypoplasia ORPHA:2754
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Spastic tetraplegia, Frontal polymicrogyria, Hypertonia, Pachygyria, Cer... OMIM:620024
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation OMIM:614105
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Cerebellar vermis hypoplasia, Pachygyria, Agenesis of corpus c... ORPHA:228308
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Spasticity, Abnormal pyramidal sign, Periventricular heterotopia, Cerebellar hypoplasia, Simplifi... ORPHA:468631
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Difficulty walking ORPHA:531151
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ataxia, Periventricular heterotopia, Cerebral palsy OMIM:619833
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia, Partial absence of cerebellar vermis, Parti... OMIM:619895
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Interhypothalamic Adhesion, Agenesis of corpus callosum OMIM:618929
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Ataxia, Cerebellar vermis hypoplasia ORPHA:314679
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic... OMIM:601390
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicrogyria OMIM:608836
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Spasticity, Gray matter heterotopia OMIM:618797
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Cerebellar hemisphere hypoplasia, Spasticity, Cerebellar hypoplasia, Typ... OMIM:615287
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Aicardi Syndrome
Gray matter heterotopia, Chiari malformation, Lateral ventricle dilatation, Polymicrogyria, Parti... OMIM:304050
Thymoma
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia ORPHA:99867
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:261236
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Miller-Dieker Lissencephaly Syndrome
Progressive spastic paraplegia, Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:247200
Bohring-Opitz Syndrome
Gray matter heterotopia, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:605039
Acromelic Frontonasal Dysostosis
Retrocerebellar cyst, Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of c... OMIM:603671
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Inability to walk ORPHA:26791
Arima Syndrome
Dilated fourth ventricle, Gray matter heterotopia, Ataxia, Agenesis of cerebellar vermis, Cerebel... OMIM:243910
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Loss of ambulation, Frequent falls, Unsteady gait, Polymicrogyria OMIM:214100
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Lead Poisoning
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia ORPHA:330015
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Chorea, Spasticity, Abnormality of neuronal migration, Dand... ORPHA:2162
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Broad-based gait, Polymicrogyria OMIM:618918
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Chiari malformation, Colpocephaly, Dysplastic corpus callosum, Agenesis ... OMIM:618820
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Van Maldergem Syndrome 2
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia OMIM:615546
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:301040
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly ORPHA:261250
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration, Cerebellar cyst, Hypothalamic hamartoma, Age... OMIM:311200
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
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Cerebellar vermis hypoplasia OMIM:242840
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gray matter heterotopia, Colpocephaly, Lateral ventricle dilatation, Abnormal cortical gyration, ... OMIM:210710
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Abnormality of neuronal migration ORPHA:464311
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum OMIM:305450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Impaired pain sensation, Gray matter heterotopia ORPHA:453499
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pattern, Cerebellar vermis h... OMIM:615948
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Impaired pain sensation, Gray matter heterotopia, Inability to walk ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Impaired pain sensation, Gray matter heterotopia, Inability to walk ORPHA:352665
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Fontaine Progeroid Syndrome
Cerebellar hypoplasia, Gray matter heterotopia, Periventricular heterotopia, Cerebellar vermis hy... OMIM:612289
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Partial agenesis of the corpus callosum, Chiari type I malformation,... OMIM:270400
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Gray matter heterotopia, Dandy-Walker malformation, Agenesis of corpu... OMIM:236680
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Periventricular heterotopia, D... ORPHA:434179
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Poor fine motor coordination, Spasticity, Periventricular heterotopia, Inability to walk, Cerebel... ORPHA:261537
Genitopatellar Syndrome
Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum, Colpocephaly OMIM:606170
Mowat-Wilson Syndrome
Spasticity, Periventricular heterotopia, Inability to walk, Enlarged cerebellum, Polymicrogyria, ... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Poor fine motor coordination, Spasticity, Periventricular heterotopia, Inability to walk, Cerebel... 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 PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)