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Gene: Cdk5r1 MGI:101764

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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:
cyclin dependent kinase 5, regulatory subunit 1
Synonyms:
p25,  p35,  D11Bwg0379e

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 Cdk5r1 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 Cdk5r1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Fo... ORPHA:101071
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Seizure, Cere... OMIM:604213
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Focal-onset seizure, Co... ORPHA:300573
Lissencephaly 4
Simplified gyral pattern, Seizure, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary mi... OMIM:614019
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu... ORPHA:77299
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Seizure, Lateral ventricle dilatation, Polymicrogyri... OMIM:600348
Intellectual Developmental Disorder, X-Linked 103
Seizure, Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Pontocerebellar Hypoplasia, Type 12
Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Primary microcephaly, Cere... OMIM:618266
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Microcephaly, Tonic seizure, Focal-onset seizure, Partial agenesis of the corpus callosum, Myoclo... OMIM:619517
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Infantile spasms, Tonic seizure, Microcephaly, Focal motor seizure, Myoclonic seizure, Lateral ve... OMIM:618890
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Leukoencephalopathy, Lateral ventricle dilatation, Progressive leukoencephalo... OMIM:615889
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Seizure, Abnormal cerebral... ORPHA:500166
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Generalized-onset seizure, Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Infantile spa... OMIM:610031
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... OMIM:609637
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Infantile spasms, Microcephaly, Seizure, Lateral ven... ORPHA:79326
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor... OMIM:617668
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Leukoencephalopathy, Cerebral ... OMIM:221770
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Focal-... ORPHA:208447
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Leukoencephalopathy With Vanishing White Matter 5
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... OMIM:620315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... ORPHA:250972
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Stxbp1-Related Encephalopathy
Cerebral white matter atrophy, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, ... ORPHA:599373
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Seizure, Cereb... OMIM:608716
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Seizure, Lateral ventricle d... OMIM:613443
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Hypoplasia of the ventral p... OMIM:607596
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Partial agenesi... ORPHA:79243
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Cerebellar vermis hypoplasia, Simplified gyral pattern, Seizure, Lateral ventric... ORPHA:284417
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Dysplastic corpus callosum,... OMIM:620317
Alg13-Cdg
Abnormal lateral ventricle morphology, Infantile spasms ORPHA:324422
Lissencephaly 3
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Microcephaly, Polymicrogyria, Seizu... OMIM:611603
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Seizur... ORPHA:488635
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric... ORPHA:171703
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Microcephaly, Myoclonic seizure, Seizure, Lateral ventricle dilat... OMIM:615716
X-Linked Parkinsonism-Spasticity Syndrome
Seizure, Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Multifocal ce... OMIM:600721
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:619420
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesi... OMIM:618736
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Seizure, Primary microcephaly OMIM:618010
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Seizure, Lateral ventricle ... OMIM:617751
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Cerebral cortical hemiatrophy ORPHA:306669
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Seizure, Hypoplasia of the corpus callosum, Abnormal cerebral ... ORPHA:101029
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Bilateral tonic-clonic seizure, Microcephaly OMIM:619278
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly OMIM:619501
Adams-Oliver Syndrome 2
Microcephaly, Hydrocephalus, Cerebral atrophy, Retrocerebellar cyst, Seizure, Lateral ventricle d... OMIM:614219
Craniosynostosis 6
Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of... OMIM:616602
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hydrocephalus, Partial age... OMIM:619302
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Simplified gyral pattern, Status epilepticus, Myoclonus, Generali... OMIM:616540
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Bilateral tonic-clonic seizure, Cerebellar vermis hypoplasia, I... ORPHA:171680
Peroxisome Biogenesis Disorder 6A (Zellweger)
Seizure, Colpocephaly, Pachygyria OMIM:614870
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation,... OMIM:618606
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Seizure, Lissence... ORPHA:2185
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, ... ORPHA:2148
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Short attention span, Impulsivity, Seizure, Lateral ventricle dilatation, Pontocere... OMIM:617854
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, Si... OMIM:619301
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Hypoplasia of the pons, Dysplastic corpus callosum, Cerebellar atrophy, Microcephaly OMIM:618276
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Abnormal cerebellum morphology, Periventricular cysts, Cerebral atrophy, Abnormal b... ORPHA:255182
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Generalized-onset seizure, Agenesis of corpus callosum ORPHA:459074
X-Linked Intellectual Disability, Wilson Type
Seizure, Lateral ventricle dilatation, Microcephaly ORPHA:85290
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum ORPHA:401815
Combined Oxidative Phosphorylation Defect Type 39
Microcephaly, Corpus callosum atrophy, Abnormal cerebellum morphology, Deep white matter hypodens... ORPHA:565624
Microcephaly 17, Primary, Autosomal Recessive
Simplified gyral pattern, Microlissencephaly, Seizure, Cerebellar hypoplasia, Hypoplasia of the c... OMIM:617090
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Seizure, Cerebellar hypopla... OMIM:304100
Cach Syndrome
Cerebellar atrophy, Microcephaly, Cerebellar vermis atrophy, Cerebral atrophy, Seizure, Lateral v... ORPHA:135
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Microcephaly, Seizure, Lateral ventricle dilatation, Myoclonus, Cerebel... ORPHA:3078
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Joubert Syndrome 3
Frontal polymicrogyria, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Lateral v... OMIM:608629
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Microcephaly, Cerebral cortical atrophy, Status epilepticus, Agen... OMIM:620200
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... OMIM:619244
X-Linked Neurodegenerative Syndrome, Bertini Type
Generalized myoclonic seizure, Agenesis of corpus callosum ORPHA:85334
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Bilateral tonic-clon... ORPHA:488627
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Seizure, Agenesis of corpus callosum, ... ORPHA:85179
Pseudo-Torch Syndrome 2
Cerebral calcification, Microcephaly, Seizure, Lateral ventricle dilatation, Cerebellar hypoplasi... OMIM:617397
Paganini-Miozzo Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Lateral ventricle dilatation OMIM:301025
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation OMIM:256850
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Cerebella... OMIM:618291
Glutamine Deficiency, Congenital
Subependymal cysts, Seizure, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:610015
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the b... OMIM:615771
Pontocerebellar Hypoplasia Type 2
Ventriculomegaly, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized o... ORPHA:2524
Gaba-Transaminase Deficiency
Seizure, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:613163
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle... OMIM:613154
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia,... OMIM:607485
Malan Overgrowth Syndrome
Seizure, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:420179
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ventriculomegaly, Hyperactivity, Microcephaly, Simplified gyral pattern, Seiz... OMIM:613402
Slc35A2-Cdg
Cerebellar atrophy, Cerebral white matter atrophy, Infantile spasms, Microcephaly, Cortical dyspl... ORPHA:356961
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Microcephaly, Cerebral atrophy, Seizure, Lateral ventricle dilatation, Status epilepticus, Myoclo... OMIM:619847
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Short attention span, Cerebellar vermis hypoplasia, Focal-onset seizure, Partial agenesis of the ... ORPHA:300570
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Reduced cerebral white matter volume, Tonic seizure, Lateral ventricle dilatation, Parietal corti... OMIM:620075
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Seizure, Lissencephaly, Polymicrogy... OMIM:614833
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Infantile spasms, Microcephaly, Seizure, Colpocephaly, Cerebellar hypoplasia, Polymicrogyria OMIM:618731
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cerebellar atrophy, Multifocal seizures, Cerebellar vermis hypoplasia, ... ORPHA:572798
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Myoclonus, Agenesis of co... OMIM:605899
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Microcephaly, Hydrocephalus, Cerebral atrophy, Seizure, Colpocephaly, Hypopla... OMIM:616034
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Seizure, Lateral ventri... ORPHA:544488
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Thin corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:614105
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Seizure, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Cog5-Cdg
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral white matter atrophy, Microcephaly, Seizur... ORPHA:263487
Glutaric Acidemia I
Seizure, Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Seizure, Cerebellar h... OMIM:616900
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Seizure, Lissencephaly, Hypoplasia of the corpus callosum OMIM:619466
Mucolipidosis Iv
Cerebellar atrophy, Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly OMIM:252650
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Abnormal substantia nigra morphology, Hyperintensity of cerebral white matt... ORPHA:2822
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ventriculomegaly, Microcephaly, Neuronal loss in the cerebral cortex, Myoclon... ORPHA:168486
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... ORPHA:1528
Developmental And Epileptic Encephalopathy 31B
Multifocal seizures, Reduced cerebral white matter volume, Infantile spasms, Clonic seizure, Myoc... OMIM:620352
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Seizure, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, ... ORPHA:293725
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Seizure, C... OMIM:620156
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Tonic seizure, Microcephaly, Seizure, Lateral ventricle dilatation, Hypoplasi... OMIM:618367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the pon... OMIM:613153
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Seizure, Agenesis ... OMIM:617542
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Periventricular cysts, Seizure, Cerebellar hypoplasia, Hypoplasia of the corpus... ORPHA:255138
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Hydrocephalus, Head-banging, Chiari type I malformation, Self-injurious beh... OMIM:619575
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Cerebral atrophy, Lateral ventr... OMIM:617296
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Ventriculomegaly, Microcephaly, Generalized clonic seizure, Focal-onset sei... OMIM:619229
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas... OMIM:618914
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Microcephaly, Cerebral atrophy, Seizure, Agenesis of corpus callosum OMIM:274270
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Corpus callosum atrophy... OMIM:301107
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Absent septum pellucidum... ORPHA:397715
Linear Skin Defects With Multiple Congenital Anomalies 3
Seizure, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Seizure, Holoprosencephaly, Agenesi... ORPHA:2182
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Microcephaly, Aggressive behavior, Hydrocephalus, Simplified gyral pattern, Seizur... OMIM:619470
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Craniotelencephalic Dysplasia
Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebellar hypoplasia, Agenesis o... OMIM:218670
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Bilateral tonic-clonic seizure, Cerebellar vermis hypop... OMIM:617281
Aicardi Syndrome
Epileptic spasm, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Infantile spasms, Dila... OMIM:304050
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,... OMIM:620001
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Short attention span, Hydrocephalus, Lateral ventricle dilatation, Diminished abi... OMIM:612863
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilat... ORPHA:98818
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Seizure, Lateral ventricle dilatation, Abnormal cerebral white matter morphology, Cavum septum pe... ORPHA:457279
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Epileptic spasm, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Seizure, Myoclon... OMIM:617669
Rasmussen Subacute Encephalitis
Subcortical cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure with generalized onse... ORPHA:1929
Distal Deletion 10Q
Microcephaly, Aggressive behavior, Seizure, Lateral ventricle dilatation, Cerebellar hypoplasia, ... ORPHA:96148
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Generalized-onset seizure, Cerebellar vermis hyp... ORPHA:357058
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior, Microcephaly, Seizure, Agenesis of corpus callosum, Ventricul... OMIM:615286
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:616531
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Lateral ventric... OMIM:611209
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Seizure, Colp... OMIM:615219
Combined Oxidative Phosphorylation Deficiency 54
Generalized-onset seizure, Dysplastic corpus callosum, Seizure, Secondary microcephaly, Periventr... OMIM:619737
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... ORPHA:101039
Weaver Syndrome
Bilateral tonic-clonic seizure, Absent septum pellucidum, Generalized non-motor (absence) seizure... OMIM:277590
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic seizure, ... OMIM:617113
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C... OMIM:619487
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Microcephaly, Hydrocephalus, Seizure, Cerebellar hypoplasia, Hydranencephaly, P... OMIM:225790
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Cerebral atrophy, Seizure, Lateral ventricle dilatation, Hypoplasia of the corpus c... ORPHA:464738
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Schizencephaly, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsi... OMIM:604317
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Chiari type I malformation, Seizure, Hypoplasia of the corpus callosum, Agenesis o... OMIM:218350
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Cerebellar ... ORPHA:101070
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Mental d... ORPHA:2382
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria... ORPHA:1692
Juvenile Huntington Disease
Cerebellar atrophy, Hyperactivity, Neuronal loss in basal ganglia, Cerebellar vermis atrophy, Abn... ORPHA:248111
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia o... OMIM:619479
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Bainbridge-Ropers Syndrome
Microcephaly, Seizure, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Inferior ... OMIM:615485
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Seizure, Periventricular white matter hyperintensities, Attention def... OMIM:301008
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... OMIM:307000
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Aggressive behavio... ORPHA:485350
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Hydrocephalus, Hypocalcemic seizures OMIM:612301
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Seizure, Cerebellar hypoplasia OMIM:618810
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, ... OMIM:618090
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Seizure, Hypoplasia of the co... OMIM:619179
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatatio... OMIM:619869
Congenital Disorder Of Glycosylation, Type Iim
Epileptic spasm, Microcephaly, Cerebral atrophy, Seizure, Lateral ventricle dilatation, Cerebella... OMIM:300896
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:615960
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Short attention span, Bilateral tonic-clonic seizure, Aggressive beh... OMIM:300558
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Microcepha... OMIM:619827
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Seizure, Agenesis of corpus callosum, Microcephaly ORPHA:1496
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Seizure, Secondary microcephaly OMIM:619423
Keppen-Lubinsky Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Lateral ventricle dilatat... OMIM:614098
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Absent septum pellucidum, Microcephaly, Abnormal cerebral white matter morphology, Lateral ventri... OMIM:300868
Halperin-Birk Syndrome
Generalized-onset seizure, Focal-onset seizure, Colpocephaly, Agenesis of corpus callosum, Ventri... OMIM:618651
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene... OMIM:619103
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618619
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Abnormal repetitive mannerisms, Hyperactivity, Typical absence seizure, Seizur... ORPHA:168491
Choreoacanthocytosis
Caudate atrophy, Compulsive behaviors, Small basal ganglia, Self-mutilation of tongue and lips du... ORPHA:2388
Prader-Willi Syndrome Due To Translocation
Microcephaly, Head-banging, Seizure, Lateral ventricle dilatation, Compulsive behaviors, Attentio... ORPHA:177907
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generaliz... OMIM:271980
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Inferior ... ORPHA:370022
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Microcephaly, Aggressive behavior, Hydrocephalus, Self-injurious behavior, Colpocephaly, Perivent... OMIM:619833
Fanconi Anemia, Complementation Group I
Absent septum pellucidum, Microcephaly, Colpocephaly, Chiari malformation, Agenesis of corpus cal... OMIM:609053
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Seizure, Colpocephaly, Secondary microcephaly, Hypoplasi... OMIM:620113
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Fg Syndrome 3
Chiari type I malformation, Hyperactivity, Agenesis of corpus callosum OMIM:300406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:615181
Gabriele-De Vries Syndrome
Cortical dysplasia, Lateral ventricle dilatation OMIM:617557
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Pachygyria OMIM:263520
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep... OMIM:210710
Cln5 Disease
Cerebellar atrophy, Hyperactivity, Generalized-onset seizure, Aggressive behavior, Corpus callosu... ORPHA:228360
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizure, Bruxism, D... OMIM:615873
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:613155
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Seizure, Status epilepticus, Hypoplasia of the corpus c... OMIM:618569
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Seizure, Hypoplasia of the corpus callosum, Agen... OMIM:614924
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ventriculomegaly, Generalized-onset seizure, Dysplastic corpus callosum, Simplified gyral pattern... ORPHA:500150
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Cerebral calcification, Seizure, Abnormal periventricular ... ORPHA:1855
16Q24.3 Microdeletion Syndrome
Seizure, Colpocephaly, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:261250
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Abnormal neuron morphology, Aggre... ORPHA:163681
47,Xyy Syndrome
Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Hydrocephalus, Seizure, Att... ORPHA:8
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... OMIM:615287
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventr... OMIM:617260
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Alobar holoprosencephaly, Microcephaly, Seizure, Colpocephaly, Agenesis of... OMIM:301043
Chromosome 1P36 Deletion Syndrome, Distal
Epileptic spasm, Infantile spasms, Microcephaly, Aggressive behavior, Hydrocephalus, Polymicrogyr... OMIM:607872
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Aggres... OMIM:610042
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus ... ORPHA:314679
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Microcephaly, Hydrocephalus, Seizure, Colpocephaly, Agenesis of corpus ... OMIM:309801
6Q Terminal Deletion Syndrome
Abnormal cerebral white matter morphology, Colpocephaly, Seizure, Cerebellar hypoplasia, Hypoplas... ORPHA:75857
Kabuki Syndrome 1
Bilateral tonic-clonic seizure with focal onset, Microcephaly, Hydrocephalus, Seizure, Lateral ve... OMIM:147920
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Generalized-onset seizure, Macrogyria, Seizure, Colpocephaly, Cerebellar hypo... OMIM:614866
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Microcephaly, Aqueductal stenosis, Hypoplasia of t... OMIM:619512
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation OMIM:181270
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Secondar... OMIM:618820
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Seizure, Colpocephaly, Cerebellar vermis hypoplasia, Microcephaly OMIM:620083
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cerebral white matter hypoplasia, Colpocephaly, Enlarged cerebellum, Hypoplasia of the corpus cal... ORPHA:477993
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly ORPHA:363444
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... ORPHA:261537
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Olivopontocerebellar hypoplasia, Hydrocephalus, Seizure, Hypoplasia of the corpus ... ORPHA:457284
Khan-Khan-Katsanis Syndrome
Colpocephaly, Cerebellar vermis hypoplasia, Ventriculomegaly, Microcephaly OMIM:618460
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... ORPHA:261552
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Short attention span, Hyperactivity, Impulsivity, Neurofibrillary tangles, Ce... OMIM:610217
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Microcephaly, Aggressive behavior, P... OMIM:270400
Zttk Syndrome
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Seizure, Status epilepticu... OMIM:617140
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atrophy, Seizure, Lateral ventricle d... OMIM:619534
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Infa... ORPHA:1934
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Partial absence of cerebellar vermis, Cerebellar hypoplasia, Agenesis of co... OMIM:613150
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cerebellar hypoplasia, Dysplastic corpus callosum, Seizure, Thick corpus callosum OMIM:300967
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Lenz-Majewski Hyperostotic Dwarfism
Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere... OMIM:151050
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Chiari type I malformation, Seizure, Cerebellar hypoplasia, Hypoplasi... ORPHA:466791
White-Kernohan Syndrome
Dysplastic corpus callosum, Attention deficit hyperactivity disorder OMIM:619426
Genitopatellar Syndrome
Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum OMIM:606170
Witteveen-Kolk Syndrome
Hyperactivity, Microcephaly, Aggressive behavior, Dysplastic corpus callosum, Cortical dysplasia,... OMIM:613406
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770

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 Cdk5r1

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 Cdk5r1.

No publications found that use IMPC mice or data for Cdk5r1.

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MGI Allele Allele Type Produced
Cdk5r1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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