Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
APC regulator of WNT signaling pathway 2
Synonyms:
APCL

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Apc2 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.

The table below shows human diseases associated to Apc2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Apc2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Seizure, Cortical dysplas... OMIM:615411
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Cerebellar hypopl... OMIM:607432
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar vermis hypopla... OMIM:611603
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Mental Retardation, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Megalencephaly, Pachygyria, Lissencephaly OMIM:614499
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebellar dys... OMIM:604213
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Ataxia, ... OMIM:618174
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Postnatal growth retardation, Ataxia, Seizure, Agyria, Agene... OMIM:300067
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Cerebellar hypoplasia, Seizure, Short stature, Periventricular nodular heterot... OMIM:618572
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Seizure, Cortical dysplasia, Agyria, Microcephaly, Subcortic... OMIM:615412
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Thick cerebral cortex, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Generalized-onse... OMIM:618677
Lissencephaly 4
Growth delay, Cerebellar hypoplasia, Seizure, Short stature, Simplified gyral pattern, Microcepha... OMIM:614019
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Se... ORPHA:101029
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebral morphology, Abnormal cerebellum morphology, Abnormal neu... ORPHA:329228
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Unilateral polymicrogyria, ... OMIM:610031
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormality of neuronal migration, Abnormal corpus callosum morphology, Seizure, Cortical... OMIM:618709
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Attention deficit hyperactivity disorder, Pachygyria, Abnormal caudate n... ORPHA:300573
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Ataxia, Polymicrogyria, Cortical dysplasia, Microcephaly OMIM:615771
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Hypoplasia of the corpus callosum, Seizure, Periventricular nodular ... OMIM:608097
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Motor seizure, Pachygyria, Gray matter heterotopia, Seizure, Agyria, Infantile spasms ORPHA:1084
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Seizure, Cortica... OMIM:608716
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly, Seizure, Attention deficit hyperactivity disorder OMIM:618185
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ataxia, Seizure, Cerebellar atrophy, Simplified gyral pattern,... OMIM:613402
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Pachygyria, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebral white matter hypoplasia... OMIM:618730
Phosphoserine Phosphatase Deficiency
Cerebral atrophy, Postnatal growth retardation, Seizure, Intrauterine growth retardation, Microce... OMIM:614023
Band Heterotopia
Gray matter heterotopia, Seizure, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpu... OMIM:600348
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Hypoplasia of the corpus callosum, Seizure, Cortical dysplasia, Perivent... OMIM:617201
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Seizure, Cerebral calcification, Intrauterine growth retardati... ORPHA:1980
Mental Retardation, Autosomal Dominant 13
Pachygyria, Hypoplasia of the corpus callosum, Focal-onset seizure, Gait disturbance, Cerebellar ... OMIM:614563
Lissencephaly 9 With Complex Brainstem Malformation
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Seizure, Short stature, Mic... OMIM:618325
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Cerebe... ORPHA:352682
Microcephaly 13, Primary, Autosomal Recessive
Cerebellar hypoplasia, Seizure, Short stature, Simplified gyral pattern, Intrauterine growth reta... OMIM:616051
Symmetrical Thalamic Calcifications
Ataxia, Abnormality of neuronal migration, Seizure, Cerebral calcification, Microcephaly ORPHA:1314
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... OMIM:615191
Isolated Focal Cortical Dysplasia
Nocturnal seizures, Thick cerebral cortex, Focal-onset seizure, Seizure, Infantile spasms, Abnorm... ORPHA:65683
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Atonic seizure, Focal tonic seizure, Status epilepticus, Pol... ORPHA:99802
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Hypoplasia of the corpus callosum, Cerebral atrophy, Seizure, Polymicrogyria, Cerebellar atrophy,... OMIM:618973
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Pachygyria, Truncal ataxia, Cerebellar hypoplasia, Seizure, Cere... OMIM:224050
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Pachygyria, Abnormal cerebellum morphology, Simplified gyral pattern, Intrauterine grow... OMIM:618397
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:171703
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Cerebellar cyst, Difficulty walking, Abnormal cerebral white... ORPHA:370980
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Seizure, Polymicrogyria, Cortical dysplasia, Microcephaly, Age... OMIM:614039
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Developmental And Epileptic Encephalopathy 62
Inability to walk, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, ... OMIM:617938
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Bilateral tonic-clonic seizure, Cerebellar atrophy, Cortical dyspla... OMIM:608278
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Seizure, Short stature, Intrauterine growth retardation, Micro... ORPHA:2216
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Inability to walk, Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy,... OMIM:618492
Microcephaly 17, Primary, Autosomal Recessive
Cerebellar hypoplasia, Seizure, Short stature, Simplified gyral pattern, Microcephaly, Microlisse... OMIM:617090
Lissencephaly 2
Thick cerebral cortex, Cerebellar hypoplasia, Generalized-onset seizure, Microcephaly, 4-layered ... OMIM:257320
Rare Non-Syndromic Intellectual Disability
Dystonia, Absent septum pellucidum, Difficulty walking, Hypoplasia of the corpus callosum, Hypopl... ORPHA:101685
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Seizure, Gray matter heterotopia OMIM:615544
Familial Infantile Myoclonic Epilepsy
Thick cerebral cortex, Focal-onset seizure, Gait disturbance, Blepharospasm, Bilateral tonic-clon... ORPHA:352582
Brain Small Vessel Disease 2
Porencephalic cyst, Focal-onset seizure, Growth delay, Subcortical heterotopia, Bilateral tonic-c... OMIM:614483
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia, Hypoplasia of the corpus ca... ORPHA:255138
Pontocerebellar Hypoplasia, Type 14
Dystonia, Focal-onset seizure, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Infantile s... OMIM:619301
Polymicrogyria, Bilateral Temporooccipital
Seizure, Polymicrogyria, Status epilepticus, Focal impaired awareness seizure OMIM:612691
Nodular Neuronal Heterotopia
Seizure, Abnormality of neuronal migration ORPHA:2149
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormality of neuronal migration... ORPHA:89844
Subependymal Nodular Heterotopia
Gray matter heterotopia, Focal-onset seizure, Abnormality of neuronal migration, Seizure, Acropar... ORPHA:101030
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Pachygyria OMIM:614173
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Seizure, Polymicrogyr... OMIM:616212
Lissencephaly 7 With Cerebellar Hypoplasia
Cerebellar hypoplasia, Seizure, Agyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:616342
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebral dysmyelination, Seiz... ORPHA:101070
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Seizure, Cerebellar atrophy, Short stature, Simplified gyral pattern, Intrauter... OMIM:616171
Pontocerebellar Hypoplasia, Type 15
Dystonia, Agenesis of corpus callosum, Focal-onset seizure, Cerebellar hypoplasia, Bilateral toni... OMIM:619302
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Growth delay, Short stature, Hypoplasia of the frontal lobes... ORPHA:2512
Peho-Like Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Status epilepticus, Seizure, Polymicrogyria, Cereb... OMIM:617507
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Focal-onset seizure, Cerebellar hypoplasia, Cerebral cortical ... OMIM:619072
Spinocerebellar Ataxia Type 2
Dystonia, Gait ataxia, Cerebral white matter atrophy, Cerebellar Purkinje layer atrophy, Chorea, ... ORPHA:98756
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Growth delay, Cerebral atrophy, Primary ame... ORPHA:135
Joubert Syndrome 24
Pachygyria, Gait disturbance, Cerebellar hypoplasia, Ataxia, Polymicrogyria, Dysmetria OMIM:616654
Familial Focal Epilepsy With Variable Foci
Paresthesia, Focal-onset seizure, Deja vu aura, Bilateral tonic-clonic seizure, Simple febrile se... ORPHA:98820
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormal periventricular white matter morphology, Cerebellar hypoplasia, Abnormality ... OMIM:608840
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Gray matter heterotopia, Cerebellar cyst, Cereb... OMIM:615960
Polymicrogyria, Bilateral Frontoparietal
Truncal ataxia, Cerebellar hypoplasia, Frontal polymicrogyria, Cerebral dysmyelination, Seizure, ... OMIM:606854
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria, Bilateral tonic-clonic seizure OMIM:614115
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebral white matter morphology, Cerebellar vermis hypoplasia, Gait disturbance, Abnorm... OMIM:300957
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Hypoplasia of the corpus callosum, Chorea, Cerebral atrophy, Seizure... OMIM:614254
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Absent septum pellucidum, Hypoplasia of the corpus callosum, Focal-onset seizure, Cereb... ORPHA:88616
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Generalized tonic seizure, Posterior predominant thick cortex pachygyria... ORPHA:95232
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-on... ORPHA:178469
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Bilateral tonic-clonic seizure, Seizure, Dysplastic corpus callosum, Polymicrogyria... ORPHA:250972
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Seizure, Agenesis of corpus callosum,... OMIM:164180
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Mild short stature, Seizure, Dysplastic corpus callosum, Polymicrogyria, Cerebellar atrophy, Shor... OMIM:614833
Mental Retardation, Autosomal Recessive 57
Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset sei... OMIM:617188
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Choreoathetosis, Cerebellar cyst, Hypoplasia of the corpus callosum, Cerebel... ORPHA:2524
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Seizure, Cerebral cortic... ORPHA:2518
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Cerebellar hypoplasia, Postnatal growth retardation, Ataxia, Short stature, Hypogonadism OMIM:616113
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia, Cerebellar hypoplasia, Anencephaly, Seizure, Cort... OMIM:615287
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Pachygyria, Cerebral atrophy, Cerebellar hypoplasia, Seizure, Short stature, Simplified gyral pat... OMIM:251270
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Intrauterine growth retardation, Postnatal growth retardation, Partial agenesis of the corpus cal... OMIM:233810
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... OMIM:617751
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Intrauterine growth reta... ORPHA:2772
Pseudo-Torch Syndrome 2
Lethargy, Gray matter heterotopia, Patent ductus arteriosus, Cerebellar hypoplasia, Seizure, Poly... OMIM:617397
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Periventricular heterotopia, Abnormal cerebral ... OMIM:618476
Galloway-Mowat Syndrome 2, X-Linked
Cerebral atrophy, Seizure, Polymicrogyria, Cerebellar atrophy, Short stature, Dysmetria, Intraute... OMIM:301006
Autosomal Recessive Cutis Laxa Type 2A
Inability to walk, Dystonia, Cerebellar malformation, Pachygyria, Thick cerebral cortex, Cerebell... ORPHA:357058
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Gray matter heterotopia, Cerebellar cy... ORPHA:370959
Congenital Hydrocephalus
Small cerebral cortex, Seizure, Abnormal cortical gyration, Colpocephaly, Lissencephaly ORPHA:2185
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Hypoplasia of the corpus callosum, Hypopituitarism, Retrocerebellar cyst... OMIM:603671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebral white matter morphology, Ce... OMIM:613153
Dysplastic Cortical Hyperostosis
Microcephaly, Short stature, Abnormality of neuronal migration ORPHA:2204
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypoplasia of the corpus callosum, Cerebral atrophy, Status epilepticus, Cerebellar vermis atroph... OMIM:615760
Hsd10 Disease
Gait disturbance, Postnatal growth retardation, Frontotemporal cerebral atrophy, Seizure, Ataxia,... ORPHA:391417
Hypocalcemia, Autosomal Dominant 2
Basal ganglia calcification, Paresthesia, Postnatal growth retardation OMIM:615361
Microhydranencephaly
Pachygyria, Cerebellar hypoplasia, Hydranencephaly, Short stature, Microcephaly, Athetosis, Agene... OMIM:605013
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Li... OMIM:218670
Tetrasomy 18P
Seizure, Microcephaly, Gait disturbance, Abnormality of neuronal migration ORPHA:3307
Chiari Malformation Type Ii
Arnold-Chiari malformation, Agenesis of corpus callosum, Ataxia, Gray matter heterotopia OMIM:207950
Hypomelanosis Of Ito
Seizure, Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Craniotelencephalic Dysplasia
Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Agenesis of corpus c... ORPHA:1528
Walker-Warburg Syndrome
Pachygyria, Absent septum pellucidum, Cerebellar hypoplasia, Abnormality of neuronal migration, D... ORPHA:899
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Hypoplasia of the corpus callosum, Chorea, Cerebral atrophy, Cerebellar hypoplasia, Sei... OMIM:612389
Vici Syndrome
Gray matter heterotopia, Cerebellar hypoplasia, Seizure, Cerebral cortical atrophy, Short stature... ORPHA:1493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyr... OMIM:615181
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Seizure, Simplified gyral pattern, Colpocephaly, Lissencephaly OMIM:615219
Cerebral Palsy, Spastic Quadriplegic, 3
Seizure, Microcephaly, Gray matter heterotopia OMIM:617008
Lissencephaly Type Iii And Bone Dysplasia
Agenesis of cerebellar vermis, Microlissencephaly, Agenesis of corpus callosum, Akinesia OMIM:601160
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gait disturbance, Cerebellar vermis hypoplasia, Ataxia... ORPHA:475
Periventricular Nodular Heterotopia 1
Seizure, Abnormality of neuronal migration, Patent ductus arteriosus, Gray matter heterotopia OMIM:300049
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Seizure... OMIM:618974
Joubert Syndrome 30
Gray matter heterotopia, Seizure, Cerebellar atrophy, Dandy-Walker malformation, Superior cerebel... OMIM:617622
Leber Congenital Amaurosis
Seizure, Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of neuronal migration ORPHA:65
9Q21.13 Microdeletion Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Difficulty walking, Postnatal... ORPHA:531151
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Type II lissencephaly, Postnatal growth retardation, Torticollis, Spastic ataxia, Hypop... ORPHA:300570
Cimdag Syndrome
Dystonia, Chorea, Pontocerebellar atrophy, Cerebral atrophy, Cerebellar vermis hypoplasia, Cerebe... OMIM:619273
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Ataxia, Abnormality of n... ORPHA:2318
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Renal tubular epithelial necrosis, Cerebellar vermis hypoplasia, Abnormality of neuro... ORPHA:157
6Q Terminal Deletion Syndrome
Gait ataxia, Periventricular heterotopia, Gray matter heterotopia, Hypoplasia of the corpus callo... ORPHA:75857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Su... OMIM:614643
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Difficulty walking, Cerebellar hypoplasia, Ataxia, Macrogyria, Short stature, ... ORPHA:280210
Crome Syndrome
Renal tubular epithelial necrosis, Cerebellar dysplasia, Seizure, Short stature, Microcephaly OMIM:218900
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Desmosterolosis
Pachygyria, Absent septum pellucidum, Growth delay, Patent ductus arteriosus, Severe short statur... ORPHA:35107
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:945
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pachygyria, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Abnormality of the basal... ORPHA:86822
Molybdenum Cofactor Deficiency, Complementation Group C
Cerebral atrophy, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Seizure, Polymicrogyria,... OMIM:615501
Bilateral Perisylvian Polymicrogyria
Focal-onset seizure, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Ectopic posterior pituit... ORPHA:98889
Superficial Siderosis
Dysdiadochokinesis, Paresthesia, Progressive gait ataxia, Limb ataxia, Impaired temperature sensa... ORPHA:247245
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Hypoplasia of the corpus callosum, Cere... OMIM:618877
Alg11-Cdg
Cerebral white matter atrophy, Gray matter heterotopia, Abnormal cerebral white matter morphology... ORPHA:280071
Peroxisome Biogenesis Disorder 13A (Zellweger)
Seizure, Abnormality of neuronal migration OMIM:614887
Neu-Laxova Syndrome
Pachygyria, Absent septum pellucidum, Cerebellar hypoplasia, Abnormality of neuronal migration, H... ORPHA:2671
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Renal tubular epithelial necrosis, Cerebellar vermis hypoplasia, Intracerebral perive... ORPHA:228308
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Aplasia/Hypoplasia of the corpus callosum, Growth delay, Cerebellar vermi... ORPHA:2754
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypoplasia of the corpus callosum, Growth delay, Cerebral atrophy, Patent ductus arteriosus, Seiz... OMIM:618659
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Cerebellar dysplasia, Cerebel... OMIM:617822
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Ataxia,... ORPHA:314679
Intellectual Developmental Disorder, Autosomal Dominant 64
Growth delay, Cerebellar hypoplasia, Seizure, Periventricular nodular heterotopia, Microcephaly, ... OMIM:619188
Aicardi Syndrome
Cavum septum pellucidum, Pachygyria, Gray matter heterotopia, Cerebellar vermis hypoplasia, Postn... OMIM:304050
Galloway-Mowat Syndrome
Pachygyria, Abnormality of neuronal migration, Seizure, Short stature, Intrauterine growth retard... ORPHA:2065
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Periventricular heterotopia, Interhypothalamic Adhesion, Focal impai... OMIM:618929
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
Gm2 Gangliosidosis, Ab Variant
Dystonia, Punctate periventricular T2 hyperintense foci, Chorea, Cerebral atrophy, Postnatal grow... ORPHA:309246
Lhermitte-Duclos Disease
Seizure, Polymicrogyria, Ataxia, Enlarged cerebellum ORPHA:65285
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Cerebellar hypoplasia, Postnatal growth retardation, Seizure, Dilated fourth ventricle, Abnormal ... OMIM:300749
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral white matter atrophy, Focal emotional seizure with laughing, Hypoplasia of the corpus ca... ORPHA:79351
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Pachygyria, Abnormal periventricular white matter morphology, Periventricular heterotopia, Hypopl... ORPHA:468631
Vici Syndrome
Gray matter heterotopia, Growth delay, Cerebellar vermis hypoplasia, Seizure, Schizencephaly, Mic... OMIM:242840
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Seizure, Arnold-Chiari m... ORPHA:2481
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Lethargy, Intracerebral periventricular calcifications, Abnormality of neuro... OMIM:608836
Miller-Dieker Lissencephaly Syndrome
Cavum septum pellucidum, Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, ... OMIM:247200
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Gait disturbance... ORPHA:192
16P13.11 Microdeletion Syndrome
Agenesis of corpus callosum, Abnormality of neuronal migration, Short stature, Microcephaly, Gene... ORPHA:261236
Radio-Tartaglia Syndrome
Gray matter heterotopia, Gait imbalance, Ataxia, Seizure, Microcephaly, Agenesis of corpus callos... OMIM:619312
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Hypoplasia of the corpus callosum, Cerebral atrophy, Infantile spasms, Gray matter heterotopia OMIM:618797
Bohring-Opitz Syndrome
Gray matter heterotopia, Mesomelic/rhizomelic limb shortening, Hypoplasia of the corpus callosum,... OMIM:605039
Neonatal Adrenoleukodystrophy
Seizure, Short stature, Abnormality of neuronal migration ORPHA:44
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Hypoplasia of the corpus callosum, Focal-onset seizure, Polymicrogyria, ... OMIM:618918
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Periventricular heterotopia, Bilateral tonic-clonic seizure, Unstead... OMIM:618733
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Porencephalic cyst, Gray matter heterotopia, Seizure, Abnormal cortical g... OMIM:311200
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Gait disturbance... ORPHA:1454
Thanatophoric Dysplasia Type 2
Seizure, Patent ductus arteriosus, Short stature, Abnormality of neuronal migration ORPHA:93274
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Pachygyria, Thick cerebral cortex, Cerebellar hypoplasia, Postnatal growth retardation, Seizure, ... ORPHA:357074
Thanatophoric Dysplasia
Gray matter heterotopia, Patent ductus arteriosus, Seizure, Intrauterine growth retardation, Disp... ORPHA:2655
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Cerebellar hypoplasia, Postnatal growth retardation, Anterior pituitary hypoplasia, Ata... ORPHA:453533
Man1B1-Cdg
Seizure, Cerebellar hypoplasia, Broad-based gait, Periventricular heterotopia ORPHA:397941
Fragile X Syndrome
Seizure, Hyperactivity, Periventricular heterotopia OMIM:300624
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Gray matter heterotopia, Chordee, Streak o... OMIM:618820
Edinburgh Malformation Syndrome
Seizure, Abnormality of neuronal migration ORPHA:1895
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Hypoplastic hippocampus, Cerebellar hypoplasia, Ataxia, Cerebral cortical atrophy, Abnormal corti... ORPHA:314647
Knobloch Syndrome 1
Cerebral atrophy, Ataxia, Seizure, Polymicrogyria, Cerebellar atrophy OMIM:267750
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Macrogyria, Abnormal cortical gyra... ORPHA:2211
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia, Absent septum pellucidum, Patent ductus arteriosus, Short stature, A... OMIM:618870
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Postnatal growth retardation, Abnormality of neuronal migra... ORPHA:7
16Q24.3 Microdeletion Syndrome
Seizure, Hypoplasia of the corpus callosum, Colpocephaly, Periventricular heterotopia ORPHA:261250
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Gait disturbance, Patent ductus arteriosus, Abnormality of neu... ORPHA:464311
Van Maldergem Syndrome 1
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Growth delay, Simplified ... OMIM:601390
Craniopharyngioma
Abnormal hypothalamus morphology, Proportionate short stature, Enlarged pituitary gland, Growth d... ORPHA:54595
Dyskeratosis Congenita, Autosomal Recessive 5
Intrauterine growth retardation, Microcephaly, Cerebellar hypoplasia, Postnatal growth retardation OMIM:615190
Periventricular Nodular Heterotopia
Focal-onset seizure, Patent ductus arteriosus, Periventricular heterotopia ORPHA:98892
Ritscher-Schinzel Syndrome 3
Periventricular nodular heterotopia, Cerebellar vermis hypoplasia, Focal impaired awareness seizu... OMIM:619135
Van Maldergem Syndrome 2
Gray matter heterotopia, Hypoplasia of the corpus callosum, Growth delay, Periventricular nodular... OMIM:615546
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Patent ductus arteriosus, Sei... OMIM:214100
Holoprosencephaly
Panhypopituitarism, Aplasia/Hypoplasia of the cerebellum, Dystonia, Aplasia/Hypoplasia of the cor... ORPHA:2162
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Seizure, Abnormality of neuronal migration ORPHA:2063
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Severe short stature, Gray matter heterotopia OMIM:187600
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Seizure, Short stature, Attention deficit hyperactivity disorder, Partia... OMIM:305450
Koolen-De Vries Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Seizure, Sh... OMIM:610443
Orofaciodigital Syndrome Xvi
Inability to walk, Ataxia, Gray matter heterotopia OMIM:617563
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Disproportionate short stature, Pachygyria, Gray matter heterotopia, Seizure, Hypoplasia of the f... OMIM:210710
Hydranencephaly
Dysgenesis of the thalamus, Lethargy, Abnormal corpus striatum morphology, Hypoplastic hippocampu... ORPHA:2177
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum, Gray matter heterotopia OMIM:276300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Seizure, Impaired pain sensation, Int... ORPHA:453499
Thanatophoric Dysplasia Type 1
Seizure, Lethal short-limbed short stature, Patent ductus arteriosus, Gray matter heterotopia ORPHA:1860
Hydrolethalus Syndrome 1
Absent septum pellucidum, Gray matter heterotopia, Arrhinencephaly, Anencephaly, Abnormal cortica... OMIM:236680
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Gray matter heterotopia, Hypoplasia of the corpus callosum, Growth delay, Seiz... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Gray matter heterotopia, Hypoplasia of the corpus callosum, Growth delay, Seiz... ORPHA:352665
Multiple Acyl-Coa Dehydrogenase Deficiency
Seizure, Inability to walk, Gray matter heterotopia, Hepatic periportal necrosis ORPHA:26791
Arima Syndrome
Gray matter heterotopia, Ataxia, Dilated fourth ventricle, Aplasia/Hypoplasia of the cerebellar v... OMIM:243910
Nijmegen Breakage Syndrome
Microcephaly, Attention deficit hyperactivity disorder, Short stature, Abnormality of neuronal mi... ORPHA:647
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Dilated... ORPHA:434179
Ventriculomegaly With Cystic Kidney Disease
Seizure, Gray matter heterotopia OMIM:219730
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Cerebel... OMIM:615948
Pagod Syndrome
Microcephaly, Short stature, Abnormality of neuronal migration ORPHA:991
Smith-Lemli-Opitz Syndrome
Hyperactivity, Periventricular heterotopia, Hypoplasia of the corpus callosum, Growth delay, Pate... OMIM:270400
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Chordee, Cerebral white matter hypoplasia, Hypoplasia of the corpus ... ORPHA:261537
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:3186
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia, Hypoplasia of the corpus callosum, Cerebell... OMIM:612289
Mowat-Wilson Syndrome
Periventricular heterotopia, Chordee, Patent ductus arteriosus, Hypoplasia of the corpus callosum... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Chordee, Patent ductus arteriosus, Cerebral white matter hypoplasia,... ORPHA:261552
Genitopatellar Syndrome
Microcephaly, Agenesis of corpus callosum, Colpocephaly, Periventricular heterotopia OMIM:606170
Proteus Syndrome
Seizure, Gray matter heterotopia ORPHA:744
Sotos Syndrome
Cavum septum pellucidum, Aplasia/Hypoplasia of the corpus callosum, Cerebral atrophy, Patent duct... ORPHA:821
Sotos Syndrome 3
Hyperactivity OMIM:617169

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 Apc2

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 Apc2.

No publications found that use IMPC mice or data for Apc2.

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MGI Allele Allele Type Produced
Apc2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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