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Gene: Apc2 MGI:1346052

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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

Order Alleles

IMPC Data Collections

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

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.

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Myoclonic seizure, Generalized-onset seizure, Cerebellar hypoplasia, Lissencephaly, Periventricul... OMIM:618677
Intellectual Developmental Disorder, Autosomal Recessive 74
Seizure OMIM:617169
Sotos Syndrome
Patent ductus arteriosus, Decreased fertility, Seizure, Generalized myoclonic seizure, Bilateral ... ORPHA:821

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lissencephaly 3
Gray matter heterotopia, Generalized tonic seizure, Seizure, Agyria, Cerebellar vermis hypoplasia... OMIM:611603
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Seizure, Agyria, Lissencephaly, Ataxia, Pachygyria, Agenesis of corpus c... OMIM:300067
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Seizure, Cerebellar hypoplasia, Partial agenesis o... OMIM:604213
Lissencephaly 4
Seizure, Short stature, Cerebellar hypoplasia, Simplified gyral pattern, Lissencephaly, Growth de... OMIM:614019
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Seizure, Abnormality of neuronal migration, Agenesis of corpus callosum,... ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Generalized-onset seizure, Seizure, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Lissence... OMIM:610031
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Seizure, Short stature, Inability to walk, Cerebellar hypoplasia, Periventricular nodular heterot... OMIM:618572
Lissencephaly 1
Gray matter heterotopia, Seizure, Cerebellar hypoplasia, Agyria, Lissencephaly, Subcortical band ... OMIM:607432
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Seizure, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria... OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Myoclonic seizure, Generalized-onset seizure, Cerebellar hypoplasia, Lissencephaly, Periventricul... OMIM:618677
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Seizure, Lateral ventricle dilatation, Focal... ORPHA:300573
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Short stature, Cerebellar hypoplasia, Simplified gyral pattern, Seiz... OMIM:616171
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Seizure, Periventricular nodular heterotopia OMIM:618185
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Agenesis of corpus callosum, Polymicrogyria ORPHA:171703
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Simplified gyral pattern, Myoclonus, Generalized myoclonic seizure, Status epileptic... OMIM:616540
Microcephaly 5, Primary, Autosomal Recessive
Seizure, Short stature, Cerebellar hypoplasia, Simplified gyral pattern, Agenesis of corpus callosum OMIM:608716
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Seizure, Agyria, Pachygyria, Motor seizure, Infantile spasms ORPHA:1084
Band Heterotopia
Gray matter heterotopia, Seizure, Lateral ventricle dilatation, Subcortical band heterotopia, Age... OMIM:600348
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Cerebellar hypoplasia, Simplified gyral pattern, Focal-onset seizure, Hypoplas... OMIM:619301
Nodular Neuronal Heterotopia
Seizure, Abnormality of neuronal migration ORPHA:2149
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Inability to walk, Short stature, Truncal ataxia, Simplified gyral p... OMIM:618273
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Abnormality of neuronal migration, Ataxia OMIM:618709
Subependymal Nodular Heterotopia
Gray matter heterotopia, Limb myoclonus, Abnormality of neuronal migration, Seizure, Focal-onset ... ORPHA:101030
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Seizure, Simplified gyral pattern, Lissencephaly, Microlissencephaly... OMIM:616212
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Cerebellar hypoplasia, Simplified gyral pattern, Focal-onset seizure, Bilatera... OMIM:619302
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Focal polymicrogyria, Ataxia, Partial agenesis of the corpus callosum, ... OMIM:615771
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Seizure, Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Seizure, 4-layered lissencephaly, Microlissencephaly, Cerebell... ORPHA:89844
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar ataxia associated with quadrupedal gait, Gait ataxia, Seizure, Dysdiadochokinesis, Sho... OMIM:224050
Periventricular Nodular Heterotopia 6
Focal motor seizure, Infantile spasms, Seizure, Periventricular nodular heterotopia OMIM:615544
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Seizure, Cerebellar hypoplasia, Ataxia, Pachygyria, Intrauterine gro... ORPHA:255138
Isolated Focal Cortical Dysplasia
Bilateral tonic-clonic seizure with focal onset, Epileptic spasm, Generalized-onset seizure, Seiz... ORPHA:65683
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Short stature, Growth delay, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Hemimegalencephaly
Gray matter heterotopia, Epileptic spasm, Seizure, Focal motor seizure, Myoclonus, Focal tonic se... ORPHA:99802
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Colpocephaly, Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callos... ORPHA:250972
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Generalized-onset seizure, Abnormality of neuronal migration, Seizure, S... OMIM:604317
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum, Dysdiadochokinesis OMIM:231950
Symmetrical Thalamic Calcifications
Seizure, Abnormality of neuronal migration, Ataxia ORPHA:1314
Bilateral Striopallidodentate Calcinosis
Seizure, Abnormality of neuronal migration, Intrauterine growth retardation ORPHA:1980
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Seizure, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:164180
Maternal Hyperthermia-Induced Birth Defects
Seizure, Abnormality of neuronal migration, Short stature, Intrauterine growth retardation ORPHA:2216
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Seizure, Short stature, Lissencephaly, Cerebellar atrophy, Mild short stature, Dysplastic corpus ... OMIM:614833
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Seizure, Cerebellar hypoplasia, Type II lissencephaly, Dysgyria ORPHA:352682
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the ventral pons, Seizure, Abnormal cortical gyration, Cerebellar hypoplasia, Cereb... ORPHA:2524
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Tip-toe gait, Cerebellar cyst, Difficulty walking, Pachygyria, Cerebella... ORPHA:370980
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Perisylvian polymicrogyria, Focal-onset seizure, Agyria, Cerebellar ver... ORPHA:171680
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Short stature, Cerebellar hypoplasia, Ataxia, Postnatal growth retardation OMIM:616113
Combined Oxidative Phosphorylation Deficiency 54
Generalized-onset seizure, Seizure, Periventricular nodular heterotopia, Hypoesthesia, Hypergonad... OMIM:619737
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Generalized-onset seizure, Seizure, Inability to walk, Abnormal cerebel... ORPHA:357058
Lissencephaly 5
Gray matter heterotopia, Cerebellar hemisphere hypoplasia, Seizure, Type II lissencephaly, Subcor... OMIM:615191
Chiari Malformation Type Ii
Gray matter heterotopia, Agenesis of corpus callosum, Chiari malformation, Ataxia OMIM:207950
Congenital Muscular Dystrophy With Cerebellar Involvement
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Gray matter heterotopia, Abnormal... ORPHA:370959
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Seizure, Simplified gyral pattern, Lissencephaly, Colpocephaly OMIM:615219
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Gray matter heterotopia, Seizure, Abnormality of neuronal migration, Ce... OMIM:300049
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Seizure, Focal-onset seizure, Generalized myoclonic seizure, Gait disturbance, Pe... ORPHA:352582
Vici Syndrome
Gray matter heterotopia, Seizure, Short stature, Cerebellar hypoplasia, Hypoplasia of the pons, A... ORPHA:1493
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Cerebellar hypoplasia, Abnormal ce... ORPHA:899
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Gray matter heterotopia, Seizure, Lateral ventricle dilatation, Cerebel... OMIM:617397
Joubert Syndrome 30
Gray matter heterotopia, Seizure, Superior cerebellar dysplasia, Cerebellar atrophy, Dandy-Walker... OMIM:617622
Brain Small Vessel Disease 2
Subcortical heterotopia, Focal-onset seizure, Bilateral tonic-clonic seizure, Growth delay, Polym... OMIM:614483
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Short stature, Abnormal cerebellum morphology, Seizure, Gait d... OMIM:300957
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Seizure, Abnormality of neuronal migration ORPHA:65
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Short stature, Abnormality of neuronal migration, Pachygyria, Cerebellar hypoplasia OMIM:608840
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Gray matter heterotopia, Cerebellar dysplasia, Cerebellar cyst, Cerebel... OMIM:615960
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Seizure, Cerebellar hypoplasia, Focal-onset seizure, Dandy-Walker ma... OMIM:618476
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Seizure, Akinesia, Cerebellar hypoplasia, Agenesis of corpus callosum, Intrauterine growth retard... OMIM:225790
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Disproportionate short-limb short stature, Abnormality of n... ORPHA:2772
Desmosterolosis
Patent ductus arteriosus, Abnormality of neuronal migration, Abnormal cortical gyration, Seizure,... ORPHA:35107
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Subcortical heterotopia, Cerebellar hypoplasia, Agyria, Lissencephaly, T... OMIM:614643
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Seizure, Renal tubular epithelial necrosis, Cerebellar vermis ... ORPHA:157
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Hypothalamic ha... OMIM:619775
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Seizure, Abnormality of neuronal migration, Short stature, ... ORPHA:2518
6Q Terminal Deletion Syndrome
Gait ataxia, Gray matter heterotopia, Abnormality of neuronal migration, Colpocephaly, Periventri... ORPHA:75857
Tetrasomy 18P
Gait disturbance, Abnormality of neuronal migration, Seizure ORPHA:3307
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Seizure, Periventricular nodular heterotopia, Ataxia, Infantile spasms, ... OMIM:617201
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration, Short stature ORPHA:2204
Cntnap2-Related Developmental And Epileptic Encephalopathy
Bilateral tonic-clonic seizure with focal onset, Cerebellar vermis atrophy, Abnormality of neuron... ORPHA:163681
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Short stature, Ataxia, Dysplastic corpus callosum, Agenesis of corpus ca... ORPHA:314679
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Seizure, Abnormality of neuronal migra... ORPHA:2481
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Short stature, Seizure, Gait disturbance, Ataxia, Growth delay... ORPHA:2754
Joubert Syndrome
Abnormality of neuronal migration, Seizure, Gait disturbance, Polymicrogyria, Ataxia, Cerebellar ... ORPHA:475
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Seizure, Renal tubular epithelial necrosis, Cerebellar vermis ... ORPHA:228308
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Focal impaired awareness seizure, Infantile spasms, Interhypothalami... OMIM:618929
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Short stature, Ataxia, Intrauterine growth retardation, Colpocephaly OMIM:619833
Aicardi Syndrome
Gray matter heterotopia, Chiari malformation, Lateral ventricle dilatation, Seizure, Cerebellar v... OMIM:304050
Neonatal Adrenoleukodystrophy
Seizure, Abnormality of neuronal migration, Short stature ORPHA:44
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Patent ductus arteriosus, Myoclonic seizure, Gray matter heterotopia, Bilateral tonic-clonic seiz... OMIM:620024
Radio-Tartaglia Syndrome
Gray matter heterotopia, Gait imbalance, Seizure, Ataxia, Agenesis of corpus callosum OMIM:619312
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation OMIM:614105
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia, Partial absence of cerebellar vermis, Parti... OMIM:619895
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Bilateral tonic-clonic seizure, Infantile spasms, Unsteady gait, Age... OMIM:618733
Hypomelanosis Of Ito
Gray matter heterotopia, Seizure OMIM:300337
16P13.11 Microdeletion Syndrome
Generalized-onset seizure, Short stature, Abnormality of neuronal migration, Agenesis of corpus c... ORPHA:261236
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Seizure OMIM:617008
Joubert Syndrome With Oculorenal Defect
Seizure, Abnormality of neuronal migration, Ataxia, Cerebellar vermis hypoplasia ORPHA:2318
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Seizure, Abnormality of neuronal migration, Short stature ORPHA:93274
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Seizure, Difficulty walking, Postnatal growth retardation ORPHA:531151
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Seizure OMIM:619694
Bilateral Perisylvian Polymicrogyria
Focal sensory seizure, Cerebellar dysplasia, Abnormality of neuronal migration, Perisylvian predo... ORPHA:98889
Man1B1-Cdg
Cerebellar hypoplasia, Seizure, Periventricular heterotopia, Broad-based gait ORPHA:397941
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Cerebellar hemisphere hypoplasia, Seizure, Cerebellar hypoplasia, Agenes... OMIM:615287
Thanatophoric Dysplasia
Patent ductus arteriosus, Gray matter heterotopia, Seizure, Disproportionate short-limb short sta... ORPHA:2655
Bohring-Opitz Syndrome
Gray matter heterotopia, Mesomelic/rhizomelic limb shortening, Seizure, Short stature, Dandy-Walk... OMIM:605039
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Seizure, Cerebellar hypoplasia, Simplified gyral pattern, Olivoponto... ORPHA:468631
Edinburgh Malformation Syndrome
Seizure, Abnormality of neuronal migration ORPHA:1895
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Seizure, Periventricular heterotopia OMIM:618974
Acromelic Frontonasal Dysostosis
Retrocerebellar cyst, Gray matter heterotopia, Seizure, Periventricular nodular heterotopia, Agen... OMIM:603671
Neu-Laxova Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Hypogonadism, Cerebellar hypoplasi... ORPHA:2671
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Seizure, Cerebellar hypoplasia, Lissencephaly, Dan... OMIM:617822
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Seizure, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicrogyria OMIM:608836
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Seizure, Gait disturbanc... ORPHA:1454
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Short stature, Dandy-Wal... ORPHA:7
16Q24.3 Microdeletion Syndrome
Seizure, Periventricular heterotopia, Colpocephaly ORPHA:261250
Fragile X Syndrome
Seizure, Periventricular heterotopia OMIM:300624
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Seizure, Abnormality of neuronal migration, Short stature, ... ORPHA:192
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Colpocephaly, Chiari malformation, Chordee, Streak ovary, Dysplastic cor... OMIM:618820
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Focal-onset seizure, Periventricular heterotopia ORPHA:98892
Galloway-Mowat Syndrome
Seizure, Short stature, Abnormality of neuronal migration, Pachygyria, Intrauterine growth retard... ORPHA:2065
Orofaciodigital Syndrome I
Gray matter heterotopia, Seizure, Abnormal cortical gyration, Short stature, Cerebellar cyst, Hyp... OMIM:311200
Ritscher-Schinzel Syndrome 3
Focal impaired awareness seizure, Periventricular nodular heterotopia, Postnatal growth retardati... OMIM:619135
Vici Syndrome
Gray matter heterotopia, Seizure, Postnatal growth retardation, Agenesis of corpus callosum, Cere... OMIM:242840
Alg11-Cdg
Gray matter heterotopia, Seizure, Ataxia ORPHA:280071
Orofaciodigital Syndrome Vi
Short stature, Periventricular nodular heterotopia, Cerebellar vermis hypoplasia, Hypothalamic ha... OMIM:277170
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Seizure, Abnormality of neuronal migration ORPHA:2063
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Inability to walk, Ataxia OMIM:617563
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gray matter heterotopia, Colpocephaly, Lateral ventricle dilatation, Abnormal cortical gyration, ... OMIM:210710
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Gray matter heterotopia, Seizure, Lethal short-limbed short stature ORPHA:1860
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum, Seizure, Short stature OMIM:305450
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Seizure, Agyria, Lissencephaly, Infantile spasms, Pachygyria, Epileptic ... OMIM:247200
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Lissencephaly, Pachygy... ORPHA:2211
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Seizure, Hepatic periportal necrosis, Inability to walk ORPHA:26791
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Seizure, Polymicrogyria OMIM:614887
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Typical absence seizure, Seizure, Inability to walk, Impaired pain sensa... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Typical absence seizure, Seizure, Inability to walk, Impaired pain sensa... ORPHA:352665
Thanatophoric Dysplasia, Type I
Disproportionate short-limb short stature, Gray matter heterotopia, Lethal short-limbed short sta... OMIM:187600
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic... OMIM:601390
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Infantile spasms, Gray matter heterotopia OMIM:618797
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Gray matter heterotopia, Seizure, Loss of ambulation, Unsteady gait, Po... OMIM:214100
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Patent ductus arteriosus, Abnormality of neuronal migration, Birth length less than 3rd percentil... ORPHA:464311
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Periventricular heterotopia, Short stature OMIM:618870
Orofaciodigital Syndrome Xiv
Patent ductus arteriosus, Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pa... OMIM:615948
Arima Syndrome
Dilated fourth ventricle, Gray matter heterotopia, Ataxia, Growth delay, Agenesis of cerebellar v... OMIM:243910
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Seizure OMIM:219730
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration, Agenesis of corpus callosum, Intrauterine gr... OMIM:236680
Holoprosencephaly
Chorea, Aplasia/Hypoplasia of the cerebellum, Seizure, Abnormality of neuronal migration, Dandy-W... ORPHA:2162
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Focal-onset seizure, Periventricular nodular heterotopia, Broad-based ga... OMIM:618918
Koolen-De Vries Syndrome
Patent ductus arteriosus, Gray matter heterotopia, Seizure, Short stature, Intrauterine growth re... OMIM:610443
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Dilated fourth ventricle, Periventricular heterotopia, Partial agenesis... ORPHA:434179
Smith-Lemli-Opitz Syndrome
Patent ductus arteriosus, Periventricular heterotopia, Short stature, Seizure, Partial agenesis o... OMIM:270400
Van Maldergem Syndrome 2
Growth delay, Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular hete... OMIM:615546
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Impaired pain sensation, Gray matter heterotopia, Seizure, Intrauterine growth retardation ORPHA:453499
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Lateral ventricle dilatation, Inability to walk, Short stature, Enla... ORPHA:261537
Mowat-Wilson Syndrome
Patent ductus arteriosus, Periventricular heterotopia, Inability to walk, Short stature, Seizure,... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Patent ductus arteriosus, Periventricular heterotopia, Lateral ventricle dilatation, Inability to... ORPHA:261552
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Short stature ORPHA:647
Fontaine Progeroid Syndrome
Patent ductus arteriosus, Gray matter heterotopia, Periventricular heterotopia, Short stature, Ce... OMIM:612289
Genitopatellar Syndrome
Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum, Colpocephaly OMIM:606170
Pagod Syndrome
Abnormality of neuronal migration, Short stature ORPHA:991
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Proteus Syndrome
Gray matter heterotopia, Seizure ORPHA:744
Intellectual Developmental Disorder, Autosomal Recessive 74
Seizure OMIM:617169
Sotos Syndrome
Patent ductus arteriosus, Decreased fertility, Seizure, Generalized myoclonic seizure, Bilateral ... ORPHA:821

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
Apc2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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