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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
Generalized-onset seizure, Infantile spasms, Hypoplasia of the pons, Myoclonic seizure, Lissencep... OMIM:618677
Intellectual Developmental Disorder, Autosomal Recessive 74
Seizure OMIM:617169
Sotos Syndrome
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Cryptorchidism, Patent ductus arter... 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
Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Ataxia, Bilateral toni... OMIM:611603
Lissencephaly, X-Linked, 1
Ataxia, Postnatal growth retardation, Gray matter heterotopia, Seizure, Lissencephaly, Pachygyria... OMIM:300067
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Sei... OMIM:604213
Lissencephaly 4
Short stature, Simplified gyral pattern, Growth delay, Seizure, Colpocephaly, Lissencephaly, Cere... OMIM:614019
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Seizure, Polymicrogyria, Agenesis of ... ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Generalized-onset seizure, Unilateral polymicrogyria, Infantile spa... OMIM:610031
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Short stature, Inability to walk, Seizure, Cerebellar hypoplasia, Periventricular nodular heterot... OMIM:618572
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Seizure, Lissencephaly, Cerebellar hypopla... OMIM:607432
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Seizure, Lissencephaly, Intrauterine growt... OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Generalized-onset seizure, Infantile spasms, Hypoplasia of the pons, Myoclonic seizure, Lissencep... OMIM:618677
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Focal-onset seizure, Perisylvian polymicrogyria, Gray... ORPHA:300573
Microlissencephaly
Cerebellar atrophy, Subcortical heterotopia, Bilateral tonic-clonic seizure with generalized onse... ORPHA:1083
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Short stature, Periventricular heterotopia, Hypoplasia of the pons, Partial a... OMIM:616171
Periventricular Nodular Heterotopia 8
Seizure, Periventricular nodular heterotopia, Cerebellar vermis atrophy OMIM:618185
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Microcephaly 5, Primary, Autosomal Recessive
Short stature, Simplified gyral pattern, Seizure, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:608716
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:171703
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo... OMIM:616540
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Motor seizure, Infantile spasms, Gray matter heterotopia, Seizure, Pachygyria, Agyria ORPHA:1084
Band Heterotopia
Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Seizure, Pol... OMIM:600348
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, Si... OMIM:619301
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Short stature, Periventricular heterotopia, Inability to walk, Unst... OMIM:618273
Nodular Neuronal Heterotopia
Seizure, Abnormality of neuronal migration ORPHA:2149
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... OMIM:619302
Microcephaly 17, Primary, Autosomal Recessive
Short stature, Simplified gyral pattern, Microlissencephaly, Seizure, Cerebellar hypoplasia, Agen... OMIM:617090
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age... OMIM:615771
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif... OMIM:616212
Subependymal Nodular Heterotopia
Focal-onset seizure, Partial agenesis of the corpus callosum, Abnormality of neuronal migration, ... ORPHA:101030
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Ataxia, Abnormality of neuronal migration OMIM:618709
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Seizure, Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Short stature, Simplified gyral pattern, Dysmetria, Gait at... OMIM:224050
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... ORPHA:89844
Periventricular Nodular Heterotopia 6
Seizure, Periventricular nodular heterotopia, Focal motor seizure, Infantile spasms OMIM:615544
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Bilateral tonic-clonic seizure, Pachygyria, Cryptorchidism, Simplified... OMIM:604317
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Periventricular heterotopia, Seizure, Cerebellar hypoplasia, Intrauterine growth retardat... ORPHA:255138
Autosomal Recessive Primary Microcephaly
Short stature, Growth delay, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... ORPHA:250972
Hemimegalencephaly
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Gray matter heterotopia, Seizure, Stat... ORPHA:99802
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Seizure, Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Oculocerebrocutaneous Syndrome
Cryptorchidism, Gray matter heterotopia, Seizure, Agenesis of corpus callosum, Dandy-Walker malfo... OMIM:164180
Glutathionuria
Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum OMIM:231950
Symmetrical Thalamic Calcifications
Seizure, Ataxia, Abnormality of neuronal migration ORPHA:1314
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Seizure, Abnormality of neuronal migration ORPHA:1980
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Short stature, Dysplastic corpus callosum, Seizure, Lissencephaly, Mild short... OMIM:614833
Pontocerebellar Hypoplasia Type 2
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Abnormal cor... ORPHA:2524
Maternal Hyperthermia-Induced Birth Defects
Intrauterine growth retardation, Seizure, Short stature, Abnormality of neuronal migration ORPHA:2216
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Seizure, Cerebellar hypoplasia, Dysgyria ORPHA:352682
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Gray matter heterotopia, Tip-toe gait, Difficulty walking, Pachygyria, Cerebe... ORPHA:370980
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Bilateral tonic-clonic seizure, I... ORPHA:171680
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Generalized-onset seizure, Hypergonadotropic hypogonadism, Dysplast... OMIM:619737
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Generalized-onset seizure, Postna... ORPHA:357058
Lissencephaly 5
Cerebellar vermis hypoplasia, Subcortical band heterotopia, Gray matter heterotopia, Seizure, Cer... OMIM:615191
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Olivopontocerebellar hypoplasia, ... ORPHA:370959
Chiari Malformation Type Ii
Gray matter heterotopia, Chiari malformation, Agenesis of corpus callosum, Ataxia OMIM:207950
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Lissencephaly, Cerebellar hypoplasia OMIM:218670
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Cryptorchidism, Abno... OMIM:300957
Walker-Warburg Syndrome
Abnormal cortical gyration, Cryptorchidism, Polymicrogyria, Abnormality of neuronal migration, Ma... ORPHA:899
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral toni... ORPHA:352582
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Abnormality of neuronal migration, Gray matter heterotopia, Seizure, Ce... OMIM:300049
Vici Syndrome
Short stature, Hypoplasia of the pons, Gray matter heterotopia, Seizure, Cerebellar hypoplasia, A... ORPHA:1493
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Gray matter heterotopia, Lateral ventricle dilatation, Seizure, Cerebel... OMIM:617397
Joubert Syndrome 30
Cerebellar atrophy, Gray matter heterotopia, Seizure, Superior cerebellar dysplasia, Dandy-Walker... OMIM:617622
Brain Small Vessel Disease 2
Subcortical heterotopia, Bilateral tonic-clonic seizure, Focal-onset seizure, Growth delay, Polym... OMIM:614483
Leber Congenital Amaurosis
Seizure, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:65
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Short stature, Cerebellar hypoplasia, Abnormality of neuronal migration OMIM:608840
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Abnormality of neuronal migration, Disproportionate short-limb short stature, Apl... ORPHA:2772
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... OMIM:615960
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Periventricular heterotopia, Focal-onset seizure, Chiari type I malformation, Seizure, Ce... OMIM:618476
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Seizure, Cerebellar hypoplasia, Intrauterine growth retardation, Polymicrogyria, Agenes... OMIM:225790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Agyria, Type II lissencephaly, Partial agenesis of the corpus callosum, ... OMIM:614643
Desmosterolosis
Severe short stature, Abnormal cortical gyration, Pachygyria, Patent ductus arteriosus, Abnormali... ORPHA:35107
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:945
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, H... OMIM:619775
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Renal tubular epithelial necrosi... ORPHA:157
Periventricular Nodular Heterotopia 7
Ataxia, Infantile spasms, Cryptorchidism, Generalized non-motor (absence) seizure, Gray matter he... OMIM:617201
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Seizure, Lissencephaly, Agenesis... OMIM:615219
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Gray matt... ORPHA:75857
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Short stature, Abnormality of neuronal migration, Seizure, Aplasia/Hypoplasia of the cerebellum, ... ORPHA:2518
Tetrasomy 18P
Seizure, Gait disturbance, Abnormality of neuronal migration ORPHA:3307
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Bilateral tonic-clonic seizure with focal onset, Abnormal neuron morphology, Focal-onset ... ORPHA:163681
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Short stature, Abnormality of neuronal migration ORPHA:2204
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Infantile spasms, Periventricular heterotopia, Cryptorchidism, Interhypothalamic adhesion, Focal ... OMIM:618929
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Ataxia, Short stature, Bilateral cryptorchidism, Abnormality of neu... ORPHA:2754
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Ataxia, Short stature, Dysplastic corpus callosum, Gray matter hete... ORPHA:314679
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Epileptic spasm, Cerebellar vermis hypoplasia, Short stature, Generalized... OMIM:620024
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Seizure, Chiari malformation, Aplasia/Hypoplasia of the cerebe... ORPHA:2481
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Renal tubular epithelial necrosi... ORPHA:228308
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ataxia, Short stature, Periventricular heterotopia, Colpocephaly, Intrauterine growth retardation OMIM:619833
Joubert Syndrome
Cerebellar vermis hypoplasia, Ataxia, Abnormality of neuronal migration, Seizure, Gait disturbanc... ORPHA:475
16P13.11 Microdeletion Syndrome
Generalized-onset seizure, Short stature, Cryptorchidism, Abnormality of neuronal migration, Agen... ORPHA:261236
Neonatal Adrenoleukodystrophy
Seizure, Short stature, Abnormality of neuronal migration ORPHA:44
Aicardi Syndrome
Epileptic spasm, Cerebellar vermis hypoplasia, Infantile spasms, Postnatal growth retardation, Pa... OMIM:304050
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia OMIM:614105
Radio-Tartaglia Syndrome
Ataxia, Gray matter heterotopia, Seizure, Gait imbalance, Agenesis of corpus callosum OMIM:619312
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Cryptorchidism, Gray matter heterotopia, Seizure, Difficulty walking ORPHA:531151
Holoprosencephaly 14
Cerebellar atrophy, Bilateral tonic-clonic seizure, Periventricular heterotopia, Partial absence ... OMIM:619895
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Periventricular heterotopia, Unsteady gait, Age... OMIM:618733
Hypomelanosis Of Ito
Gray matter heterotopia, Seizure OMIM:300337
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Infantile spasms, Focal-onset seizure, Perisylvian predominant thic... ORPHA:98889
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Seizure OMIM:617008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of cerebellar vermis, Type II lissencephaly, Gray matter heterotopia, Seizure, Cerebella... OMIM:615287
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Severe short stature, Olivopontocerebellar hypoplasia, Hypoplasia of the pons... ORPHA:468631
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Seizure OMIM:619694
Thanatophoric Dysplasia Type 2
Seizure, Patent ductus arteriosus, Short stature, Abnormality of neuronal migration ORPHA:93274
Joubert Syndrome With Oculorenal Defect
Seizure, Cerebellar vermis hypoplasia, Ataxia, Abnormality of neuronal migration ORPHA:2318
Man1B1-Cdg
Seizure, Broad-based gait, Cerebellar hypoplasia, Periventricular heterotopia ORPHA:397941
Acromelic Frontonasal Dysostosis
Cryptorchidism, Retrocerebellar cyst, Gray matter heterotopia, Seizure, Periventricular nodular h... OMIM:603671
Edinburgh Malformation Syndrome
Seizure, Abnormality of neuronal migration ORPHA:1895
Bohring-Opitz Syndrome
Short stature, Mesomelic/rhizomelic limb shortening, Gray matter heterotopia, Seizure, Intrauteri... OMIM:605039
Li-Ghorbani-Weisz-Hubshman Syndrome
Seizure, Patent ductus arteriosus, Periventricular heterotopia OMIM:618974
Thanatophoric Dysplasia
Patent ductus arteriosus, Gray matter heterotopia, Seizure, Disproportionate short-limb short sta... ORPHA:2655
Fragile X Syndrome
Macroorchidism, postpubertal, Seizure, Congenital macroorchidism, Periventricular heterotopia OMIM:300624
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Macrogyria, Lissen... ORPHA:2671
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Seizure, Lissencephaly, Cerebellar hypoplasia, Dandy-Walker malformation... OMIM:617822
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Seizure, Colpocephaly, Periventricular heterotopia ORPHA:261250
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Seizure, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration OMIM:608836
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Ataxia, Abnormality of neuronal migration, Seizure, Gait disturbanc... ORPHA:1454
3C Syndrome
Short stature, Postnatal growth retardation, Abnormality of neuronal migration, Aplasia/Hypoplasi... ORPHA:7
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Dysplastic corpus callosum, Cryptorchidism, Gray matter heterotopia, Colpocephaly, ... OMIM:618820
Ritscher-Schinzel Syndrome 3
Cerebellar vermis hypoplasia, Postnatal growth retardation, Cryptorchidism, Focal impaired awaren... OMIM:619135
Galloway-Mowat Syndrome
Short stature, Abnormality of neuronal migration, Seizure, Intrauterine growth retardation, Pachy... ORPHA:2065
Coffin-Lowry Syndrome
Short stature, Abnormality of neuronal migration, Seizure, Gait disturbance, Aplasia/Hypoplasia o... ORPHA:192
Periventricular Nodular Heterotopia
Focal-onset seizure, Patent ductus arteriosus, Periventricular heterotopia ORPHA:98892
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Seizure, Abnormality of neuronal migration, Cryptorchidism ORPHA:2063
Orofaciodigital Syndrome I
Short stature, Abnormal cortical gyration, Gray matter heterotopia, Seizure, Hypothalamic hamarto... OMIM:311200
Alg11-Cdg
Gray matter heterotopia, Seizure, Ataxia ORPHA:280071
Vici Syndrome
Cerebellar vermis hypoplasia, Postnatal growth retardation, Gray matter heterotopia, Seizure, Age... OMIM:242840
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Short stature, Hypothalamic hamartoma, Periventricular nodular hete... OMIM:277170
Orofaciodigital Syndrome Xvi
Inability to walk, Gray matter heterotopia, Ataxia OMIM:617563
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal cortical gyration, Cryptorc... OMIM:210710
Miller-Dieker Lissencephaly Syndrome
Epileptic spasm, Infantile spasms, Cryptorchidism, Gray matter heterotopia, Seizure, Lissencephal... OMIM:247200
Opitz-Kaveggia Syndrome
Short stature, Cryptorchidism, Partial agenesis of the corpus callosum, Gray matter heterotopia, ... OMIM:305450
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Patent ductus arteriosus, Seizure, Lethal short-limbed short stature ORPHA:1860
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Impaired pain sensation, Inability to walk, Typical absence seizure, Cryptorchidism, Growth delay... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Impaired pain sensation, Inability to walk, Typical absence seizure, Cryptorchidism, Growth delay... ORPHA:352665
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gray matter heterotopia, Hepatic periportal necrosis, Seizure ORPHA:26791
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2211
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria, Seizure OMIM:614887
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Simple febrile seizure, Cryptorchidism, Patent ductus arteriosus, Abnormality of neuronal migrati... ORPHA:464311
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Infantile spasms OMIM:618797
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Growth delay, Gray matter heterotopia, Pe... OMIM:601390
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Lethal short-limbed short stature, Disproportionate short-limb short sta... OMIM:187600
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Patent ductus arteriosus, Unsteady gait, Gray matter heterotopia, Seizure, Loss o... OMIM:214100
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Periventricular heterotopia, Cryptorchidism, Partial agenesis of th... OMIM:615948
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Short stature, Periventricular heterotopia OMIM:618870
Koolen-De Vries Syndrome
Short stature, Cryptorchidism, Patent ductus arteriosus, Gray matter heterotopia, Seizure, Intrau... OMIM:610443
Holoprosencephaly
Cryptorchidism, Chorea, Abnormality of neuronal migration, Seizure, Aplasia/Hypoplasia of the cer... ORPHA:2162
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Periventricular heterotopia, Bilateral cryptorchidism, Partial agenesis... ORPHA:434179
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Gr... OMIM:243910
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Gray matter heterotopia, Intrauterine growth retardation, Agenesis of... OMIM:236680
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Seizure OMIM:219730
Periventricular Nodular Heterotopia 9
Broad-based gait, Focal-onset seizure, Gray matter heterotopia, Periventricular nodular heterotop... OMIM:618918
Van Maldergem Syndrome 2
Cryptorchidism, Subcortical band heterotopia, Growth delay, Gray matter heterotopia, Periventricu... OMIM:615546
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Short stature, Periventricular heterotopia, Cryptorchidism, Partial agenesis ... OMIM:270400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Impaired pain sensation, Cryptorchidism, Gray matter heterotopia, Seizure, Intrauterine growth re... ORPHA:453499
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Short stature, Per... ORPHA:261537
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Agenesis of cerebellar vermis, Ataxia,... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Short stature, Per... ORPHA:261552
Genitopatellar Syndrome
Periventricular heterotopia, Cryptorchidism, Colpocephaly, Pachygyria, Agenesis of corpus callosum OMIM:606170
Fontaine Progeroid Syndrome
Cerebellar vermis hypoplasia, Short stature, Periventricular heterotopia, Cryptorchidism, Patent ... OMIM:612289
Nijmegen Breakage Syndrome
Short stature, Abnormality of neuronal migration ORPHA:647
Pagod Syndrome
Abnormal testis morphology, Short stature, Abnormality of neuronal migration ORPHA:991
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Proteus Syndrome
Macroorchidism, Gray matter heterotopia, Seizure, Testicular neoplasm ORPHA:744
Intellectual Developmental Disorder, Autosomal Recessive 74
Seizure OMIM:617169
Sotos Syndrome
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Cryptorchidism, Patent ductus arter... 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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