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Gene: Camsap1 MGI:3036242

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Gene Summary

Name:
calmodulin regulated spectrin-associated protein 1
Synonyms:
PRO2405,  9530003A05Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating phosphate level Camsap1em1(IMPC)J HET Early adult 3.45×10-05
increased grip strength Camsap1em1(IMPC)J HET   Early adult 5.18×10-06

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Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

16 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Camsap1 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 Camsap1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Seizure OMIM:615411
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Death in infancy, Seizure, Pachygyria, Agenesis o... OMIM:300067
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia, Seizure OMIM:615544
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Seizure, Abnormality of neuronal migratio... OMIM:604317
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Seizure OMIM:607432
Nodular Neuronal Heterotopia
Abnormality of neuronal migration, Seizure ORPHA:2149
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Infantile spasms, Motor seizure, Agyria, Seizure, Pachygyria ORPHA:1084
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Seizure, Abnormality of neuronal migration, Agenesis of ... ORPHA:101029
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Polymicrogyria, Partial agene... OMIM:604213
Lissencephaly 3
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Seizure, Pachygyria, Agenesis of ... OMIM:611603
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... ORPHA:65683
Microlissencephaly
Periventricular heterotopia, Bilateral tonic-clonic seizure with generalized onset, Polymicrogyri... ORPHA:1083
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Seizure OMIM:618185
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia, Seizure OMIM:608097
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Infantile spasms, Myoclonic seizure, Periventricular ribbonlike heterotopia, Lissencephaly, Gener... OMIM:618677
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus, Seizure OMIM:618709
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Seizure, Occipital encep... ORPHA:352682
Hemimegalencephaly
Status epilepticus, Focal motor seizure, Gray matter heterotopia, Atonic seizure, Myoclonus, Epil... ORPHA:99802
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia, Seizure OMIM:617201
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Seizure OMIM:618572
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Subependymal Nodular Heterotopia
Myelomeningocele, Gray matter heterotopia, Focal aware seizure, Nasofrontal encephalocele, Polymi... ORPHA:101030
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Seizure ORPHA:1980
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Lissencephaly 5
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia, Occi... OMIM:615191
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Seizure ORPHA:1314
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Infantile spasms, Polymicrogyria, Bilateral tonic-clonic seizure, Sei... ORPHA:250972
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Seizure ORPHA:2216
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Polymicrogyria, Lateral ventricle dilatation... ORPHA:300573
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Neonatal death, Polymicrogyria OMIM:619602
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Subcortical heterotopia, Polymicrogyria, Focal-onset seizure OMIM:614483
Acalvaria
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Polymicrogyria, Partial agenesis of the corpus callosum,... OMIM:616212
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele, Seizure ORPHA:65
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration, Seizure OMIM:614887
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Seizure, Abnormality of neuronal migration, Microlissencephaly, Agenesis... ORPHA:89844
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Seizure, Simplified gyral pa... OMIM:615219
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia, Seizure OMIM:300049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Gray matter heterotopia, Anencephaly, Type II lissencephaly, Seizure, Occipital en... OMIM:615287
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus callosum, Seizure OMIM:164180
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:2512
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus, Seizure ORPHA:1895
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Seizure, Abnormality of neuronal migration, Encephalocele ORPHA:93274
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic ... OMIM:620024
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Periventric... ORPHA:352582
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Tetrasomy 18P
Abnormality of neuronal migration, Seizure ORPHA:3307
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Seizure OMIM:617008
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Walker-Warburg Syndrome
Hydrocephalus, Agenesis of corpus callosum, Abnormal cortical gyration, Polymicrogyria, Lissencep... ORPHA:899
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Hypomelanosis Of Ito
Gray matter heterotopia, Seizure OMIM:300337
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia, Seizure, Encephalocele, Agenesis of... OMIM:603671
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Death in infancy, Seizure, Meningocele ORPHA:2481
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:466650
Desmosterolosis
Status epilepticus, Hydrocephalus, Agenesis of corpus callosum, Abnormal cortical gyration, Polym... ORPHA:35107
Joubert Syndrome 30
Gray matter heterotopia, Seizure OMIM:617622
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Seizure OMIM:619694
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Spina bifida, Agenesis of corpus callos... OMIM:207950
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Seizure ORPHA:44
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium concentration OMIM:307800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Gray matter heterotopia, Encephalocele, Polymicrogyria, Type II lissencephaly, Agy... OMIM:614643
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Type II lissencephaly, Seizure, Occipital... ORPHA:370959
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia, Seizure ORPHA:2655
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Agenesis of corpus callosum, Seizure, Pachygyria ORPHA:255138
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia, Seizure OMIM:219730
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Seizure OMIM:618974
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Hypophosphatemia OMIM:241530
Cntnap2-Related Developmental And Epileptic Encephalopathy
Bilateral tonic-clonic seizure with focal onset, Abnormal neuron morphology, Focal-onset seizure,... ORPHA:163681
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Elevated circulating creatine kinase ... OMIM:619743
Joubert Syndrome
Hydrocephalus, Polymicrogyria, Seizure, Abnormality of neuronal migration, Encephalocele ORPHA:475
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Seizure OMIM:300957
Vici Syndrome
Gray matter heterotopia, Death in infancy, Agenesis of corpus callosum, Seizure ORPHA:1493
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... ORPHA:2211
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria, Aqueductal stenosis, Seizure ORPHA:2065
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Hydrocephalus, Agenesis of corpus callosum, Seizure OMIM:618476
Fragile X Syndrome
Periventricular heterotopia, Seizure OMIM:300624
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypophosphatemia, Hypercalcemia OMIM:239200
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Periventricular Nodular Heterotopia
Periventricular heterotopia, Focal-onset seizure ORPHA:98892
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Hydrocephalus, Seizure, Encephalocele ORPHA:2318
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Polymicrogyria, Seizure, Abnormality of neuronal migration, Pachygyria, Agenesis o... ORPHA:157
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Seizure ORPHA:2518
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Thanatophoric Dysplasia, Type I
Hydrocephalus, Gray matter heterotopia, Neonatal death OMIM:187600
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Gray matter heterotopia, Seizure, Lissencephaly OMIM:617822
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... ORPHA:411634
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Seizure ORPHA:2063
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
3C Syndrome
Abnormality of neuronal migration, Hydrocephalus, Death in infancy ORPHA:7
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Generalized-onset seizure, Agenesis of corpus callosum, Holopr... ORPHA:261236
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Death in infancy, Seizure, Abnormality of neuronal migration, Agenesis of corpus ... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Polymicrogyria, Seizure, Abnormality of neuronal migration, Pachygyria, Agenesis o... ORPHA:228308
Holoprosencephaly 14
Periventricular heterotopia, Gray matter heterotopia, Hydrocephalus, Alobar holoprosencephaly, Aq... OMIM:619895
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria, Seizure OMIM:617397
Thanatophoric Dysplasia Type 1
Hydrocephalus, Gray matter heterotopia, Seizure ORPHA:1860
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:2671
Alport Syndrome 3, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Dent Disease 1
Hypophosphatemia OMIM:300009
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Seizure OMIM:619312
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Seizure ORPHA:531151
Man1B1-Cdg
Periventricular heterotopia, Seizure ORPHA:397941
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... ORPHA:3337
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Infantile spasms, Epileptic spasm, Agyria, Lissencephaly, Seizure, Pachy... OMIM:247200
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Infantile spasms, Agenesis of corpus callosum, Focal impaired awaren... OMIM:618929
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Transient hypophosphatemia... ORPHA:79102
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Death in early adulthood, Seizure ORPHA:192
Opsismodysplasia
Hypophosphatemia OMIM:258480
Alg11-Cdg
Gray matter heterotopia, Seizure ORPHA:280071
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Hydrocephalus, Occipital encephalocele, Seizure ORPHA:1454
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Infantile spasms OMIM:618797
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Hydrocephalus, Colpocephaly OMIM:619833
Bilateral Perisylvian Polymicrogyria
Bilateral perisylvian polymicrogyria, Infantile spasms, Seizure, Abnormality of neuronal migratio... ORPHA:98889
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Polymicrogyria, Seizure, Abnormality of neu... ORPHA:75857
Van Maldergem Syndrome 1
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Bilateral tonic-clonic seizure, Infantile spasms, Agenesis of corpus... OMIM:618733
Congenital Disorder Of Deglycosylation 2
Partial agenesis of the corpus callosum, Gray matter heterotopia, Polymicrogyria OMIM:619775
Raine Syndrome
Hypophosphatemia OMIM:259775
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carniti... OMIM:219800
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Seizure OMIM:605039
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Aicardi Syndrome
Gray matter heterotopia, Infantile spasms, Epileptic spasm, Polymicrogyria, Partial agenesis of t... OMIM:304050
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Hyperalaninemia ORPHA:699
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly, Seizure ORPHA:261250
Peroxisome Biogenesis Disorder 1A (Zellweger)
Death in childhood, Gray matter heterotopia, Polymicrogyria, Seizure OMIM:214100
Fructose Intolerance, Hereditary
Bicarbonaturia, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia OMIM:229600
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Seizure, Simplified gyral pattern, Pa... ORPHA:468631
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Seizure ORPHA:26791
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria, Focal-onset seizure OMIM:618918
Holoprosencephaly
Hydrocephalus, Holoprosencephaly, Spinal dysraphism, Seizure, Abnormality of neuronal migration, ... ORPHA:2162
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Seizure OMIM:242840
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia ORPHA:534
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia OMIM:615546
Dent Disease
Elevated circulating creatine kinase concentration, Renal hypophosphatemia ORPHA:1652
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter heterotopia, Seizure OMIM:305450
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Seizure ORPHA:2754
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Abnormal cortical gyration, Seizure, Ag... OMIM:311200
Pagod Syndrome
Death in infancy, Meningocele, Abnormality of neuronal migration, Encephalocele, Spina bifida ORPHA:991
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:314679
Autosomal Recessive Hypophosphatemic Rickets
Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Hydrolethalus Syndrome 1
Gray matter heterotopia, Anencephaly, Arrhinencephaly, Abnormal cortical gyration, Severe hydroce... OMIM:236680
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gray matter heterotopia, Seizure, Pachygyria, Stillbirth, Agenesis of corpus callosum OMIM:210710
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Simple febrile seizure, Seizure ORPHA:464311
Koolen-De Vries Syndrome
Gray matter heterotopia, Seizure OMIM:610443
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Holoprosencephaly, Polymicrogyria, Colpoceph... OMIM:618820
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Seizure ORPHA:453499
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Typical absence seizure, Gray matter heterotopia, Agenesis of corpus callosum, Seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Typical absence seizure, Gray matter heterotopia, Agenesis of corpus callosum, Seizure ORPHA:352665
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Holoprosencephaly ORPHA:3186
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Fontaine Progeroid Syndrome
Periventricular heterotopia, Gray matter heterotopia, Hydrocephalus, Neonatal death, Death in inf... OMIM:612289
Arima Syndrome
Occipital meningocele, Gray matter heterotopia OMIM:243910
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Hydrocephalus, Holoprosencephaly, Partial agenesis of the corpus cal... OMIM:270400
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Holoprosencephaly, Polymicrogyria, Simplified gyral pattern, Occipit... OMIM:615948
Proteus Syndrome
Gray matter heterotopia, Seizure ORPHA:744
Genitopatellar Syndrome
Periventricular heterotopia, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Periventricular heterotopia ORPHA:434179
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Atypical absence seizure, Periventricular heterotopia, Polymicrogyria, Lateral ventricle dilatati... ORPHA:261537
Mowat-Wilson Syndrome
Status epilepticus, Atypical absence seizure, Periventricular heterotopia, Polymicrogyria, Focal-... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Atypical absence seizure, Periventricular heterotopia, Polymicrogyria, Lateral ventricle dilatati... ORPHA:261552

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 Camsap1

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 Camsap1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. American journal of human genetics (October 2022) Camsap1em1(IMPC)J 36283405

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MGI Allele Allele Type Produced
Camsap1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Camsap1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Camsap1em1(IMPC)J Exon Deletion Mice

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