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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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.

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 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
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Lissencephaly 1
Spastic tetraparesis, Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Cereb... OMIM:607432
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Periventricular Nodular Heterotopia 8
Spasticity, Periventricular nodular heterotopia, Cerebellar vermis atrophy OMIM:618185
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Cer... OMIM:604213
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Microlissencephaly
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... ORPHA:1083
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Periventricular nodular heterotopia, Spastic paraplegia, Cerebellar hypoplasia OMIM:618572
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... ORPHA:101010
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Spastic tetraplegia, Gray matter heterotopia, Lissencephaly, Pachyg... OMIM:615411
Lissencephaly 3
Cerebellar vermis hypoplasia, Ataxia, Periventricular laminar heterotopia, Agyria, Spastic tetrap... OMIM:611603
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... OMIM:615268
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Spastic tetraplegia, Hypertonia, Lissencephaly, Cerebellar hypoplasia, Pe... OMIM:618677
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... ORPHA:94122
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor OMIM:601238
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygyria, Agyria OMIM:300067
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... OMIM:619742
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... 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
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Pachygyria OMIM:614173
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Periventricular heterotopia, Inability to walk, Unsteady gait, Simp... OMIM:618273
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc... OMIM:224050
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... ORPHA:423275
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Spasticity, Pachygyria, Agyria ORPHA:1084
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... ORPHA:101108
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Tetraparesis, Periventricular heterotopia OMIM:608097
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:171703
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor OMIM:618876
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor OMIM:608029
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Joubert Syndrome 24
Ataxia, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Spasticity, Pachygyria, Polymicrogyria OMIM:616654
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... ORPHA:276193
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... OMIM:610357
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Symmetrical Thalamic Calcifications
Spasticity, Hypertonia, Ataxia, Abnormality of neuronal migration ORPHA:1314
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus OMIM:125370
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... OMIM:616127
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Simplified gyral pattern, Abnormality of neuronal migration, Hemiparesis, G... OMIM:604317
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormality of neuronal migration OMIM:618709
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
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Band Heterotopia
Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyr... OMIM:600348
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, Cerebellar hypoplasia, Dysgyria, Type II lissencephaly ORPHA:352682
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)
Frontal polymicrogyria, Broad-based gait, Hypoplasia of the pons, Babinski sign, Perisylvian poly... OMIM:606854
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Pachygyria, Gray matter heterotopia, Tip-toe gait, Difficulty walking, Freque... ORPHA:370980
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... OMIM:616204
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... OMIM:117360
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Abnormal cortical... ORPHA:98756
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... OMIM:615960
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Gray matter heterotopia, ... ORPHA:300573
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Lissencephaly 5
Cerebellar vermis hypoplasia, Subcortical band heterotopia, Spastic paraplegia, Gray matter heter... OMIM:615191
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Simplified gyral pattern, Microlissencephaly, Li... OMIM:616212
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Broad-based gait, Head titubation, Simplified gyral pattern, Gait ataxi... OMIM:620208
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Partial agenesis of the ... OMIM:616171
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Maternal Hyperthermia-Induced Birth Defects
Hypertonia, Abnormality of neuronal migration ORPHA:2216
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
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Babinski sign, Cerebellar hypoplasia, Abnormality of neuronal migration OMIM:608840
Glutathionuria
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Action tremor OMIM:231950
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Hemimegalencephaly
Pachygyria, Hemiparesis, Gray matter heterotopia, Myoclonus, Polymicrogyria, Abnormal neuron morp... ORPHA:99802
Brain Small Vessel Disease 2
Hemiplegia, Polymicrogyria, Subcortical heterotopia, Spastic tetraplegia OMIM:614483
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia OMIM:612020
Joubert Syndrome 30
Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:945
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Abnormality of neuronal mig... OMIM:300957
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Cerebellar hypoplasia, Abnormality of neuronal migration OMIM:300049
Cerebral Palsy, Spastic Quadriplegic, 3
Abnormal pyramidal sign, Spastic tetraplegia, Spastic diplegia, Gray matter heterotopia, Spasticity OMIM:617008
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... ORPHA:89844
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus, Perivent... ORPHA:352582
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Subependymal Nodular Heterotopia
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Abnormality of ... ORPHA:101030
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Clonus, Olivopontocerebellar hypo... ORPHA:370959
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Chiari Malformation Type Ii
Gray matter heterotopia, Chiari malformation, Ataxia, Opisthotonus OMIM:207950
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Ataxia, Cerebellar hypoplasia, Periventricular heterotopia ORPHA:255138
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2772
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:164180
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Hemiparesis, Chiari malformation, Aplasia/Hypoplasia of the ce... ORPHA:2481
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:899
Joubert Syndrome
Cerebellar vermis hypoplasia, Ataxia, Tremor, Abnormality of neuronal migration, Gait disturbance... ORPHA:475
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Abnormality of neuronal migration ORPHA:2518
Tetrasomy 18P
Gait disturbance, Abnormality of neuronal migration ORPHA:3307
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Subcortical heterotopia, Agyria, Partial agenesis of the corpus callos... OMIM:614643
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Abnormality of neurona... ORPHA:163681
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor ... ORPHA:98889
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Ataxia OMIM:617201
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Spasticity OMIM:619694
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Periventricular heterotopia, Rigidity, Spastic tetraplegia, Chiari type I malformation, C... OMIM:618476
Orofaciodigital Syndrome Xvi
Oculomotor apraxia, Inability to walk, Ataxia, Gray matter heterotopia OMIM:617563
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria, Cerebellar hypoplasia OMIM:617397
Edinburgh Malformation Syndrome
Hypertonia, Abnormality of neuronal migration ORPHA:1895
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, H... OMIM:619775
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Macrogyria, Opisth... ORPHA:2671
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Ataxia, Abnormality of neuronal migration ORPHA:2318
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Man1B1-Cdg
Resting tremor, Broad-based gait, Cerebellar hypoplasia, Periventricular heterotopia ORPHA:397941
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Oculomotor apraxia, Dandy-Walker m... OMIM:617822
Desmosterolosis
Abnormal cortical gyration, Rigidity, Abnormality of neuronal migration, Macrogyria, Hypertonia, ... ORPHA:35107
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Abnormality of neuronal migrati... ORPHA:1454
Vici Syndrome
Hypoplasia of the pons, Gray matter heterotopia, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:1493
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Alg11-Cdg
Ataxia, Opisthotonus, Gray matter heterotopia, Hypertonia, Limb hypertonia ORPHA:280071
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lissencephaly, Agenesis of corpu... OMIM:615219
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Agen... ORPHA:157
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2211
Galloway-Mowat Syndrome
Pachygyria, Hemiplegia/hemiparesis, Hypertonia, Abnormality of neuronal migration ORPHA:2065
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Gray matt... ORPHA:75857
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Hypertonia, Gait disturbance, Progressive spasticity, Aplasia/... ORPHA:192
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Dandy-Walker malformation ORPHA:7
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Spastic tetraplegia, Gray matter heterotopi... OMIM:620024
Radio-Tartaglia Syndrome
Tremor, Gray matter heterotopia, Ataxia, Gait imbalance OMIM:619312
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Ataxia, Tremor, Abnormality of neuronal migration, Gait disturbance ORPHA:2754
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia OMIM:614105
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Periventricular hete... ORPHA:468631
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Agen... ORPHA:228308
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Difficulty walking ORPHA:531151
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cerebral palsy, Ataxia, Periventricular heterotopia OMIM:619833
Holoprosencephaly 14
Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Partial... OMIM:619895
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Agenesis of corpus callosum, Periventricular heterotopia OMIM:618929
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Cerebellar vermis hypoplasia, Ataxia ORPHA:314679
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Spasticity OMIM:618797
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration OMIM:608836
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of cerebellar vermis, Type II lissencephaly, Gray matter heterotopia, Cerebellar hemisph... OMIM:615287
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Aicardi Syndrome
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, L... OMIM:304050
16P13.11 Microdeletion Syndrome
Agenesis of corpus callosum, Abnormality of neuronal migration ORPHA:261236
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria, Progressive spastic paraplegia OMIM:247200
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:605039
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Inability to walk ORPHA:26791
Acromelic Frontonasal Dysostosis
Retrocerebellar cyst, Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of c... OMIM:603671
Peroxisome Biogenesis Disorder 1A (Zellweger)
Unsteady gait, Gray matter heterotopia, Loss of ambulation, Frequent falls, Polymicrogyria OMIM:214100
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Gr... OMIM:243910
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Holoprosencephaly
Chorea, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Spasticity, Dand... ORPHA:2162
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Broad-based gait, Polymicrogyria, Periventricular nodular heterotopia OMIM:618918
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chiari malformation, Polymicro... OMIM:618820
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
16Q24.3 Microdeletion Syndrome
Colpocephaly, Periventricular heterotopia ORPHA:261250
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Orofaciodigital Syndrome I
Abnormal cortical gyration, Gray matter heterotopia, Hypothalamic hamartoma, Agenesis of corpus c... OMIM:311200
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Periventricular heterotopia OMIM:618733
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Partial ... OMIM:210710
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Abnormality of neuronal migration ORPHA:464311
Vici Syndrome
Gray matter heterotopia, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:242840
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
Gray matter heterotopia, Impaired pain sensation ORPHA:453499
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Periventricular heterotopia, Partial agenesis of the corpus callosu... OMIM:615948
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Inability to walk, Impaired pain sensation ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Inability to walk, Impaired pain sensation ORPHA:352665
Fontaine Progeroid Syndrome
Gray matter heterotopia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Periventricular het... OMIM:612289
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Hydrolethalus Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration, Dandy-Walker ma... OMIM:236680
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Chiari ... OMIM:270400
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Per... ORPHA:434179
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... ORPHA:261537
Genitopatellar Syndrome
Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia OMIM:606170
Mowat-Wilson Syndrome
Broad-based gait, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Impaired p... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... 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) Plxna2tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Plxna2tm1a(EUCOMM)Wtsi PMC5827107
Functional assembly of accessory optic system circuitry critical for compensatory eye movements. Neuron (May 2015) Plxna2tm1a(EUCOMM)Wtsi PMC4441577
On and off retinal circuit assembly by divergent molecular mechanisms. Science (New York, N.Y.) (November 2013) Plxna2tm1a(EUCOMM)Wtsi PMC3863450

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MGI Allele Allele Type Produced
Plxna2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Plxna2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Plxna2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Plxna2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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