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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 6.46×10-05
preweaning lethality, complete penetrance Camsap1em1(IMPC)J HOM   Early adult 0.00
increased grip strength Camsap1em1(IMPC)J HET Early adult 5.18×10-06

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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.

X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral 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 Lateral Orientation

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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Electroretinography 3

Fundus file

1 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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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 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.

The table below shows human diseases associated to Camsap1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Seizure, Death in childhood, Agenesis of corpus callosum, Pachygyria, Lissencephaly OMIM:620316

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
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Seizure, Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Lissencephaly, X-Linked, 1
Seizure, Death in infancy, Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotop... OMIM:300067
Lissencephaly 1
Seizure, Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:607432
Nodular Neuronal Heterotopia
Abnormality of neuronal migration, Seizure ORPHA:2149
Lissencephaly 3
Seizure, Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Genera... OMIM:611603
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Seizure, Infantile spasms, Gray matter heterotopia, Pachygyria, Agyria, Motor seizure ORPHA:1084
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Sub-Cortical Nodular Heterotopia
Seizure, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Subcorti... ORPHA:101029
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Infantile spasms, Focal motor seizure, Seizure OMIM:615544
Chudley-Mccullough Syndrome
Seizure, Polymicrogyria, Dysplastic corpus callosum, Hydrocephalus, Gray matter heterotopia, Part... OMIM:604213
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Focal impaired awareness seizure, Seizure, Generalized-onset seizure,... ORPHA:65683
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Bilateral tonic-clonic seizure with generalized onse... ORPHA:1083
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia, Seizure OMIM:608097
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Myoclonic seizure, Generalized-onset seizure, Infantile spasms, Periventricular ribbonlike hetero... OMIM:618677
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level 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
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Seizure OMIM:618185
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Seizure, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter het... ORPHA:352682
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Polymicrogyria, Generalized-onset seizure, Abnormality of neuronal migration, Bilateral ... OMIM:604317
Band Heterotopia
Lateral ventricle dilatation, Seizure, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus... OMIM:600348
Hemimegalencephaly
Seizure, Polymicrogyria, Epileptic spasm, Gray matter heterotopia, Myoclonus, Focal tonic seizure... ORPHA:99802
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Seizure OMIM:618572
Subependymal Nodular Heterotopia
Occipital encephalocele, Limb myoclonus, Seizure, Polymicrogyria, Myelomeningocele, Abnormality o... ORPHA:101030
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Seizure ORPHA:2216
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Seizure ORPHA:1980
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Seizure, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, G... ORPHA:300573
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Lissencephaly 5
Occipital encephalocele, Seizure, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, ... OMIM:615191
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Seizure ORPHA:1314
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Polymicrogyria, Infantile spasms, Agenesis of corpus callosum, Dysplastic corpus callosu... ORPHA:250972
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Brain Small Vessel Disease 2
Subcortical heterotopia, Focal-onset seizure, Bilateral tonic-clonic seizure, Polymicrogyria OMIM:614483
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Lissencephaly 6 With Microcephaly
Seizure, Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Partial age... OMIM:616212
Acalvaria
Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Partial agenesis of the corpus callosum, Periventricular heterotopia, Seizure, Simplified gyral p... OMIM:616171
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele, Seizure ORPHA:65
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Seizure OMIM:620065
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Lissencephaly Syndrome, Norman-Roberts Type
Seizure, Agenesis of corpus callosum, Abnormality of neuronal migration, Microlissencephaly, 4-la... ORPHA:89844
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Joubert Syndrome 30
Gray matter heterotopia, Polymicrogyria, Seizure, Agenesis of corpus callosum OMIM:617622
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia, Seizure OMIM:300049
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele, Seizure, Agenesis of corpus callosum OMIM:164180
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Seizure, Simplified gyral pattern OMIM:618273
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus, Seizure ORPHA:1895
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Thanatophoric Dysplasia Type 2
Seizure, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly ORPHA:93274
Periventricular Nodular Heterotopia 7
Seizure, Generalized non-motor (absence) seizure, Polymicrogyria, Periventricular nodular heterot... OMIM:617201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Encephalocele, Death in infancy, ... OMIM:614643
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Seizure, Periventricular nodular heterotopia, Focal-onset seizure, Bilateral toni... ORPHA:352582
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Seizure OMIM:617008
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Myoclonic seizure, Generalized-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure wit... OMIM:620024
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Tetrasomy 18P
Abnormality of neuronal migration, Seizure ORPHA:3307
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Seizure, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Gray matter heterotopia, Commu... OMIM:615219
Hypomelanosis Of Ito
Gray matter heterotopia, Seizure OMIM:300337
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Death in infancy, Meningocele, Seizure ORPHA:2481
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia ORPHA:340
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Walker-Warburg Syndrome
Abnormal cortical gyration, Seizure, Polymicrogyria, Agenesis of corpus callosum, Abnormality of ... ORPHA:899
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ... OMIM:207950
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Seizure OMIM:619694
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Seizure, Polymicrogyria, Type II lissencephaly, Agenesis of corpus callo... ORPHA:370959
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Seizure ORPHA:44
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Seizure, Death in childhood, Agenesis of corpus callosum, Pachygyria, Lissencephaly OMIM:620316
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria, Seizure, Neonatal death OMIM:614887
Desmosterolosis
Abnormal cortical gyration, Seizure, Polymicrogyria, Agenesis of corpus callosum, Abnormality of ... ORPHA:35107
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Seizure, Agenesis of corpus callosum ORPHA:255138
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Seizure OMIM:300957
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus, Seizure ORPHA:2655
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Cntnap2-Related Developmental And Epileptic Encephalopathy
Seizure, Focal-onset seizure, Abnormality of neuronal migration, Abnormal neuron morphology, Bila... ORPHA:163681
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Seizure OMIM:618974
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Joubert Syndrome
Seizure, Polymicrogyria, Encephalocele, Abnormality of neuronal migration, Hydrocephalus ORPHA:475
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Aqueductal stenosis, Seizure, Pachygyria ORPHA:2065
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Vici Syndrome
Gray matter heterotopia, Death in infancy, Seizure, Agenesis of corpus callosum ORPHA:1493
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Seizure, Polymicrogyria OMIM:617397
Fragile X Syndrome
Periventricular heterotopia, Seizure OMIM:300624
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Seizure OMIM:219730
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Carnitine Palmitoyltransferase Ii Deficiency
Seizure, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Hydrocep... ORPHA:157
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Periventricular Nodular Heterotopia
Periventricular heterotopia, Focal-onset seizure ORPHA:98892
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Hydrocephalus, Encephalocele, Seizure ORPHA:2318
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus, Neonatal death OMIM:187600
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Seizure ORPHA:2518
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m... ORPHA:2211
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Seizure ORPHA:2063
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Holoprosencephaly 14
Alobar holoprosencephaly, Periventricular heterotopia, Hydrocephalus, Bilateral tonic-clonic seiz... OMIM:619895
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Seizure, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Hydrocep... ORPHA:228308
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Hydrocephalus, Seizure, Lissencephaly OMIM:617822
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Seizure, Polymicrogyria, Death in infancy, Agenesis of corpus callosum, Abnormality of neuronal m... OMIM:608836
16P13.11 Microdeletion Syndrome
Generalized-onset seizure, Abnormality of neuronal migration, Holoprosencephaly, Agenesis of corp... ORPHA:261236
3C Syndrome
Abnormality of neuronal migration, Hydrocephalus, Death in infancy ORPHA:7
Dent Disease 1
Hypophosphatemia OMIM:300009
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus, Seizure ORPHA:1860
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Radio-Tartaglia Syndrome
Gray matter heterotopia, Seizure, Agenesis of corpus callosum OMIM:619312
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Seizure ORPHA:531151
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Man1B1-Cdg
Periventricular heterotopia, Seizure ORPHA:397941
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Seizure, Periventricular heterotopia, Agenesis of corpus callosum, Hydrocephalus, Focal-onset sei... OMIM:618476
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Infantile spasms, Periventricular heterotopia, Focal impaired awareness seizure, Agenesis of corp... OMIM:618929
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Miller-Dieker Lissencephaly Syndrome
Seizure, Pachygyria, Epileptic spasm, Infantile spasms, Gray matter heterotopia, Agyria, Lissence... OMIM:247200
Opsismodysplasia
Hypophosphatemia OMIM:258480
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation OMIM:614105
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Spina bifida, Pach... ORPHA:2671
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Occipital encephalocele, Hydrocephalus, Seizure ORPHA:1454
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Death in early adulthood, Seizure ORPHA:192
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Periventricular heterotopia, Hydrocephalus OMIM:619833
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Alg11-Cdg
Gray matter heterotopia, Seizure ORPHA:280071
Bilateral Perisylvian Polymicrogyria
Bilateral perisylvian polymicrogyria, Seizure, Perisylvian predominant thick cortex pachygyria, F... ORPHA:98889
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Infantile spasms OMIM:618797
6Q Terminal Deletion Syndrome
Seizure, Polymicrogyria, Periventricular heterotopia, Abnormality of neuronal migration, Colpocep... ORPHA:75857
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale... OMIM:219800
Raine Syndrome
Hypophosphatemia OMIM:259775
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia, Seizure OMIM:620475
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero... OMIM:601390
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Periventricular heterotopia, Bilateral tonic-clonic seizure, Agenesis of corpus... OMIM:618733
Aicardi Syndrome
Lateral ventricle dilatation, Seizure, Polymicrogyria, Epileptic spasm, Infantile spasms, Spina b... OMIM:304050
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria OMIM:619775
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Bohring-Opitz Syndrome
Gray matter heterotopia, Seizure, Agenesis of corpus callosum OMIM:605039
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Lateral ventricle dilatation, Seizure, Polymicrogyria, Pachygyria, De... OMIM:210710
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Seizure, Type II lissencephaly, Agenesis of corpus callosum, Hydrocephal... OMIM:615287
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Seizure ORPHA:26791
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Death in childhood, Seizure, Polymicrogyria OMIM:214100
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Seizure, Polymicrogyria, Periventricular heterotopia, Agenesis of corpus callosum, Pachygyria, Lo... ORPHA:468631
16Q24.3 Microdeletion Syndrome
Colpocephaly, Periventricular heterotopia, Seizure ORPHA:261250
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Galloway-Mowat Syndrome 1
Abnormality of neuronal migration, Seizure, Pachygyria OMIM:251300
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Holoprosencephaly
Spinal dysraphism, Seizure, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holo... ORPHA:2162
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus, Seizure OMIM:305450
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Seizure ORPHA:2754
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Orofaciodigital Syndrome I
Abnormal cortical gyration, Seizure, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus... OMIM:311200
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:314679
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Pagod Syndrome
Encephalocele, Death in infancy, Abnormality of neuronal migration, Spina bifida, Meningocele ORPHA:991
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Focal-onset seizure, Polymicrogyria OMIM:618918
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Koolen-De Vries Syndrome
Gray matter heterotopia, Seizure OMIM:610443
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Seizure, Simple febrile seizure ORPHA:464311
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Gray matte... OMIM:618820
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Agenesis of corpus callosum, Stillbirth, Gray matter heterotopia, Ane... OMIM:236680
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Seizure ORPHA:453499
Vici Syndrome
Gray matter heterotopia, Seizure, Agenesis of corpus callosum OMIM:242840
Acromelic Frontonasal Dysostosis
Seizure, Periventricular nodular heterotopia, Encephalocele, Agenesis of corpus callosum, Gray ma... OMIM:603671
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia OMIM:620654
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Typical absence seizure, Seizure, Agenesis of corpus callosum ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Typical absence seizure, Seizure, Agenesis of corpus callosum ORPHA:352665
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Holoprosencephaly ORPHA:3186
Fontaine Progeroid Syndrome
Periventricular heterotopia, Death in infancy, Neonatal death, Hydrocephalus, Gray matter heterot... OMIM:612289
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Smith-Lemli-Opitz Syndrome
Seizure, Periventricular heterotopia, Death in infancy, Colpocephaly, Hydrocephalus, Partial agen... OMIM:270400
Arima Syndrome
Gray matter heterotopia, Occipital meningocele OMIM:243910
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Polymicrogyria, Periventricular heterotopia, Partial agenesis of the cor... OMIM:615948
Proteus Syndrome
Gray matter heterotopia, Seizure ORPHA:744
Genitopatellar Syndrome
Pachygyria, Colpocephaly, Periventricular heterotopia, Agenesis of corpus callosum OMIM:606170
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Periventricular heterotopia ORPHA:434179
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Lateral ventricle dilatation, Seizure, Polymicrogyria, Periventricular heterotopia, Agenesis of c... ORPHA:261537
Mowat-Wilson Syndrome
Seizure, Polymicrogyria, Periventricular heterotopia, Focal-onset seizure, Agenesis of corpus cal... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Lateral ventricle dilatation, Seizure, Polymicrogyria, Periventricular heterotopia, Agenesis of c... 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

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
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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