Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
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

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electroretinography 3

Fundus file

1 Images

X-ray

XRay Images Forepaw

10 Images

Auditory Brain Stem Response

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

7 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

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
Cryptorchidism, Seizure, Lissencephaly, Death in childhood, Pachygyria, Agenesis of corpus callosum 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
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Seizure, Lissencephaly, Pachygyria, Agyria OMIM:615411
Lissencephaly, X-Linked, 1
Death in infancy, Gray matter heterotopia, Seizure, Lissencephaly, Pachygyria, Agenesis of corpus... OMIM:300067
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Seizure, Lissencephaly, Pachygyria, Agyria OMIM:607432
Nodular Neuronal Heterotopia
Seizure, Abnormality of neuronal migration ORPHA:2149
Lissencephaly 3
Agyria, Bilateral tonic-clonic seizure, Periventricular laminar heterotopia, Seizure, Gray matter... OMIM:611603
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Motor seizure, Infantile spasms, Gray matter heterotopia, Seizure, Pachygyria, Agyria ORPHA:1084
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Seizure, Polymicrogyria, Agenesis of ... ORPHA:101029
Periventricular Nodular Heterotopia 6
Seizure, Periventricular nodular heterotopia, Focal motor seizure, Infantile spasms OMIM:615544
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Microlissencephaly
Subcortical heterotopia, Bilateral tonic-clonic seizure with generalized onset, Periventricular h... ORPHA:1083
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Seizure, Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Generalized-onset seizure, Infantile spasms, Myoclonic seizure, Lissencephaly, Periventricular ri... OMIM:618677
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Bilateral tonic-clonic seizure, Cryptorchidism, Simplified gyral patte... OMIM:604317
Periventricular Nodular Heterotopia 8
Seizure, Periventricular nodular heterotopia OMIM:618185
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Seizure, Lateral ventricle ... OMIM:600348
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Seizure, Dysgyria, Type II lisse... ORPHA:352682
Hemimegalencephaly
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Seizure, Gray matter heterotopia, Stat... ORPHA:99802
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Seizure, Periventricular nodular heterotopia OMIM:618572
Subependymal Nodular Heterotopia
Occipital encephalocele, Focal-onset seizure, Partial agenesis of the corpus callosum, Myelomenin... ORPHA:101030
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Bilateral Striopallidodentate Calcinosis
Seizure, Abnormality of neuronal migration ORPHA:1980
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Polymicrogyria Due To Tubb2B Mutation
Focal-onset seizure, Perisylvian polymicrogyria, Seizure, Gray matter heterotopia, Lateral ventri... ORPHA:300573
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Se... OMIM:615191
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Symmetrical Thalamic Calcifications
Seizure, Abnormality of neuronal migration ORPHA:1314
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... ORPHA:250972
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Maternal Hyperthermia-Induced Birth Defects
Seizure, Abnormality of neuronal migration ORPHA:2216
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Brain Small Vessel Disease 2
Focal-onset seizure, Subcortical heterotopia, Bilateral tonic-clonic seizure, Polymicrogyria OMIM:614483
Acalvaria
Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration, Spina bifida ORPHA:945
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gyral pattern, M... OMIM:616212
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94089
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Seizure, Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heter... OMIM:616171
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Seizure, Periventricular nodular heterotopia OMIM:620065
Leber Congenital Amaurosis
Encephalocele, Seizure, Abnormality of neuronal migration ORPHA:65
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79444
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Seizure, Agenesis... ORPHA:89844
Oculocerebrocutaneous Syndrome
Cryptorchidism, Orbital encephalocele, Gray matter heterotopia, Seizure, Agenesis of corpus callosum OMIM:164180
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Seizure, Abnormality of neuronal migration OMIM:300049
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79443
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Seizure, Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Periventricular Nodular Heterotopia 7
Infantile spasms, Cryptorchidism, Generalized non-motor (absence) seizure, Seizure, Gray matter h... OMIM:617201
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:620024
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Edinburgh Malformation Syndrome
Seizure, Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Seizure, Holoprosencephaly ORPHA:93274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Subcortical heterotopia, Agyria, Partial agenesis of the corpus ... OMIM:614643
Walker-Warburg Syndrome
Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Abnormality of neuronal migration, Mac... ORPHA:899
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... ORPHA:352582
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Seizure OMIM:617008
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... ORPHA:157215
Tetrasomy 18P
Seizure, Abnormality of neuronal migration ORPHA:3307
Neurocutaneous Melanocytosis
Seizure, Meningocele, Abnormality of neuronal migration, Death in infancy ORPHA:2481
Hypomelanosis Of Ito
Gray matter heterotopia, Seizure OMIM:300337
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Se... OMIM:615219
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Cryptorchidism, Seizure, Lissencephaly, Death in childhood, Pachygyria, Agenesis of corpus callosum OMIM:620316
Desmosterolosis
Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migration, Macrogyria, Seizure... ORPHA:35107
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Joubert Syndrome 30
Gray matter heterotopia, Seizure OMIM:617622
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Agen... OMIM:207950
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Seizure OMIM:619694
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Seizure, Polymicrogyria, Agenesi... ORPHA:370959
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Neonatal Adrenoleukodystrophy
Seizure, Abnormality of neuronal migration ORPHA:44
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Seizure, Abnormality of neuronal migration OMIM:300957
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:307800
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Fragile X Syndrome
Macroorchidism, postpubertal, Seizure, Congenital macroorchidism, Periventricular heterotopia OMIM:300624
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Peroxisome Biogenesis Disorder 13A (Zellweger)
Neonatal death, Seizure, Polymicrogyria, Gray matter heterotopia OMIM:614887
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Pyruvate Dehydrogenase E1-Beta Deficiency
Seizure, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia ORPHA:255138
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Abnormality of neuronal migration ORPHA:2772
Cntnap2-Related Developmental And Epileptic Encephalopathy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Abnormality of neuronal mig... ORPHA:163681
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Li-Ghorbani-Weisz-Hubshman Syndrome
Seizure, Periventricular heterotopia OMIM:618974
Thanatophoric Dysplasia
Gray matter heterotopia, Seizure, Hydrocephalus ORPHA:2655
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Joubert Syndrome
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Seizure, Polymicrogyria ORPHA:475
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Galloway-Mowat Syndrome
Aqueductal stenosis, Seizure, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Vici Syndrome
Gray matter heterotopia, Seizure, Agenesis of corpus callosum, Death in infancy ORPHA:1493
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Seizure, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Seizure, Hydrocephalus OMIM:219730
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy... ORPHA:2211
Periventricular Nodular Heterotopia
Focal-onset seizure, Periventricular heterotopia ORPHA:98892
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Seizure, Polymicrogyria, Agenesis o... ORPHA:157
Joubert Syndrome With Oculorenal Defect
Encephalocele, Seizure, Hydrocephalus, Abnormality of neuronal migration ORPHA:2318
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia, Hydrocephalus OMIM:187600
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Seizure, Abnormality of neuronal migration ORPHA:2518
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cryptorchidism, Seizure, Abnormality of neuronal migration ORPHA:2063
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
16P13.11 Microdeletion Syndrome
Generalized-onset seizure, Cryptorchidism, Abnormality of neuronal migration, Holoprosencephaly, ... ORPHA:261236
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Cryptorchidism, Seizure ORPHA:531151
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Holoprosencephaly 14
Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular he... OMIM:619895
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Seizure, Hydrocephalus, Lissencephaly OMIM:617822
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Seizure, Polymicrogyria, Agenesis o... ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Abnormality of neuronal migration, Seizure, Polymicrogyria, Agenesis of corpus ... OMIM:608836
3C Syndrome
Death in infancy, Hydrocephalus, Abnormality of neuronal migration ORPHA:7
Dent Disease 1
Hypophosphatemia OMIM:300009
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Infantile spasms, Periventricular heterotopia, Cryptorchidism, Focal impaired awareness seizure, ... OMIM:618929
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Seizure, Hydrocephalus ORPHA:1860
Miller-Dieker Lissencephaly Syndrome
Epileptic spasm, Infantile spasms, Cryptorchidism, Seizure, Gray matter heterotopia, Lissencephal... OMIM:247200
Radio-Tartaglia Syndrome
Gray matter heterotopia, Seizure, Agenesis of corpus callosum OMIM:619312
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Neu-Laxova Syndrome
Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr... ORPHA:2671
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Man1B1-Cdg
Seizure, Periventricular heterotopia ORPHA:397941
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Focal-onset seizure, Hydrocephalus, Seizure, Agenesis of corpus call... OMIM:618476
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia OMIM:614105
Opsismodysplasia
Hypophosphatemia OMIM:258480
Coffin-Lowry Syndrome
Seizure, Death in early adulthood, Abnormality of neuronal migration ORPHA:192
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Joubert Syndrome With Hepatic Defect
Seizure, Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration ORPHA:1454
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Colpocephaly, Periventricular heterotopia OMIM:619833
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Alg11-Cdg
Gray matter heterotopia, Seizure ORPHA:280071
Bilateral Perisylvian Polymicrogyria
Infantile spasms, Focal-onset seizure, Perisylvian predominant thick cortex pachygyria, Abnormali... ORPHA:98889
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Infantile spasms OMIM:618797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Gray matter het... OMIM:615287
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Seizure,... ORPHA:75857
Raine Syndrome
Hypophosphatemia OMIM:259775
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria OMIM:619775
Cystinosis, Nephropathic
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... OMIM:219800
Aicardi Syndrome
Epileptic spasm, Infantile spasms, Spina bifida, Partial agenesis of the corpus callosum, Seizure... OMIM:304050
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Infantile spasms, Periventricular he... OMIM:618733
Acromelic Frontonasal Dysostosis
Encephalocele, Cryptorchidism, Gray matter heterotopia, Seizure, Periventricular nodular heteroto... OMIM:603671
Pearson Syndrome
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Colpocephaly, Seizure, Periventricular heterotopia ORPHA:261250
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Abnormal cortical gyration, Cryptorchidism, Partial agenesis of the corpus call... OMIM:210710
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Gray matter heterotopia, Seizure, Death in childhood, Polymicrogyria OMIM:214100
Bohring-Opitz Syndrome
Gray matter heterotopia, Seizure, Agenesis of corpus callosum OMIM:605039
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Cryptorchidism, Simplified gyral pattern, Lobar holoprosencephaly, S... ORPHA:468631
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Seizure ORPHA:26791
Holoprosencephaly
Encephalocele, Cryptorchidism, Hydrocephalus, Abnormality of neuronal migration, Spinal dysraphis... ORPHA:2162
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Orofaciodigital Syndrome Type 6
Bilateral cryptorchidism, Seizure, Abnormality of neuronal migration ORPHA:2754
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Pagod Syndrome
Encephalocele, Death in infancy, Spina bifida, Meningocele, Abnormality of neuronal migration, Ab... ORPHA:991
Opitz-Kaveggia Syndrome
Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter heterotopia, ... OMIM:305450
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Van Maldergem Syndrome 2
Gray matter heterotopia, Cryptorchidism, Periventricular nodular heterotopia, Subcortical band he... OMIM:615546
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum ORPHA:314679
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Koolen-De Vries Syndrome
Gray matter heterotopia, Cryptorchidism, Seizure OMIM:610443
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Focal-onset seizure, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Orofaciodigital Syndrome I
Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Seizure, Ag... OMIM:311200
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cryptorchidism, Seizure, Abnormality of neuronal migration, Simple febrile seizure ORPHA:464311
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Holoprosenceph... OMIM:618820
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Cryptorchidism, Seizure ORPHA:453499
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalu... OMIM:236680
Vici Syndrome
Gray matter heterotopia, Seizure, Agenesis of corpus callosum OMIM:242840
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cryptorchidism, Typical absence seizure, Gray matter heterotopia, Seizure, Agenesis of corpus cal... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cryptorchidism, Typical absence seizure, Gray matter heterotopia, Seizure, Agenesis of corpus cal... ORPHA:352665
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
Fontaine Progeroid Syndrome
Death in infancy, Periventricular heterotopia, Cryptorchidism, Hydrocephalus, Gray matter heterot... OMIM:612289
Smith-Lemli-Opitz Syndrome
Death in infancy, Periventricular heterotopia, Cryptorchidism, Partial agenesis of the corpus cal... OMIM:270400
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Periventricular heterotopia, Cryptorchidism, Partial agenesis of the cor... OMIM:615948
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Arima Syndrome
Gray matter heterotopia, Occipital meningocele OMIM:243910
Proteus Syndrome
Macroorchidism, Seizure, Testicular neoplasm, Gray matter heterotopia ORPHA:744
Genitopatellar Syndrome
Periventricular heterotopia, Cryptorchidism, Colpocephaly, Pachygyria, Agenesis of corpus callosum OMIM:606170
Orofaciodigital Syndrome Type 14
Bilateral cryptorchidism, Partial agenesis of the corpus callosum, Periventricular heterotopia ORPHA:434179
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Cryptorchidism, Focal-onset seizure, Hydrocele testis, Seizure, Late... ORPHA:261537
Mowat-Wilson Syndrome
Periventricular heterotopia, Cryptorchidism, Focal-onset seizure, Hydrocele testis, Seizure, Stat... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Cryptorchidism, Focal-onset seizure, Hydrocele testis, Seizure, Late... 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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