Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
brain abundant, membrane attached signal protein 1
Synonyms:
2610024P12Rik,  CAP-23,  Ckap3,  CAP23

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Basp1 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 Basp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebral cortex morphology, Abnormal neuron morphology, Abnormal ... ORPHA:329228
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... OMIM:604317
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight, Microcephaly OMIM:616311
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Ventriculomegaly, Hyperactivity, Progressive microcephaly, Ataxia, Hypo... OMIM:613402
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Progressive microcephaly, Cerebral atrophy, Hypoplasia of the c... OMIM:616657
Mental Retardation, Autosomal Recessive 3
Hyperactivity, Progressive microcephaly OMIM:608443
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight, Microcephaly OMIM:608747
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Simplified gyral pattern, Hyperactivity, Periventricular white matter hyperintensi... OMIM:619470
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Hyperactivity, Cerebral atrophy, Agenesis of corpus callosum, M... OMIM:274270
Juvenile Huntington Disease
Dystonia, Neuronal loss in basal ganglia, Weight loss, Bradykinesia, Ventriculomegaly, Hyperactiv... ORPHA:248111
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Immunodeficiency 8
Hyperactivity OMIM:615401
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Aminoacylase 1 Deficiency
Hyperactivity, Cerebral atrophy OMIM:609924
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Large basal ganglia, Absent septum pellucidum, Hyperactivity, Polymicrogyria, Cerebral ... ORPHA:88616
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Ataxia, Hypoplasia of the corpus callosum, Cerebral cortical atrophy OMIM:300983
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Hyperactivity, Gait ataxia, Microcephaly OMIM:609425
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Hypoplasia of the corpus callosum OMIM:618090
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Periventricular white matter hyperintens... OMIM:301008
Ck Syndrome
Abnormal cerebral cortex morphology, Slender build, Hyperactivity, Pachygyria, Polymicrogyria, Mi... ORPHA:251383
Glycine Encephalopathy
Hyperactivity, Agenesis of corpus callosum, Lethargy OMIM:605899
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Hypoplasia of the corpus callosum, Microcephaly, Cerebral atrophy OMIM:616977
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Cerebral atrophy OMIM:615924
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Optic Atrophy 11
Optic atrophy, Dysmetria, Facial diplegia, Leukoencephalopathy, Hyperactivity, Ataxia, Microcephaly OMIM:617302
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Ventriculomegaly, Hyperactivity, Broad-based gait, Hypoplasia of the corpus callosum, Cortical dy... ORPHA:457260
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Failure to thrive, Cerebral white matter atrophy, Hyperactivity, Corpus callosum a... ORPHA:369939
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Ventriculomegaly, Hyperactivity, Inability to walk, Hypoplasia of the corpus callosum, ... ORPHA:500180
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Decreased body weight, Microcephaly OMIM:618342
Ck Syndrome
Slender build, Hyperactivity, Pachygyria, Polymicrogyria, Microcephaly OMIM:300831
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Ventriculomegaly, Hyperactivity, Broad-based gait, Decreased body weight, Hypoplasia of the corpu... OMIM:300958
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity, Decreased response to growth hormone stimulation test, Agenesis... OMIM:615286
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Simplified gyral pattern, Ventriculomegaly, Hyperactivity, Hypoplasia of the corpus callosum, Pol... OMIM:300354
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Microcephaly OMIM:309548
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Microcephaly OMIM:300434
Xq25 Microduplication Syndrome
Hyperactivity, Hypoplasia of the corpus callosum ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Hypoplasia of the corpus callosum OMIM:300979
Rasmussen Subacute Encephalitis
Hemidystonia, Cerebral cortical hemiatrophy, Subcortical cerebral atrophy, Ventriculomegaly, Hype... ORPHA:1929
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Secondary microcephaly, Hypoplasia of the corpus callosum, Truncal obesity OMIM:613192
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Clcn4-Related X-Linked Intellectual Disability Syndrome
Ventriculomegaly, Progressive cerebellar ataxia, Hyperactivity, Periventricular leukomalacia, Abn... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Microcephaly OMIM:615541
Alazami-Yuan Syndrome
Hyperactivity, Microcephaly OMIM:617126
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Failure to thrive, Hyperactivity, Progressive microcephaly, Broad-based gait, Unsteady gait OMIM:617865
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Abnormal neuron morphology, Hyperactivity, Ataxia, Periventric... ORPHA:163681
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder, Microcephaly, Cerebral calcification OMIM:261600
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Secondary microcephaly, Hypoplasia of the corpus callosum OMIM:617773
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait, Obesity, Cessation of head growth ORPHA:411515
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Abnormality of peripheral nerve conduction, Optic atrophy, Cerebellar... ORPHA:35069
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder, Small for gestational age, Microcephaly ORPHA:352490
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Corpus c... ORPHA:228360
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Microcephaly, Hyperact... OMIM:614104
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Hydrocephalus, Microcephaly OMIM:300558
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia, Microcephaly OMIM:612716
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Megalencephaly, Abnormal corpus callosum morphology, Large for gestational age,... ORPHA:457485
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Myopathy With Extrapyramidal Signs
Dystonia, Optic atrophy, Perisylvian polymicrogyria, Hypoplastic anterior limbs of the internal c... OMIM:615673
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Hyperactivity, Ataxia, Cerebral atrophy, Gait ataxia, Limb dystonia ORPHA:363400
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Aganglionic megacolon, Hyperactivity, Ataxia, Microcephaly ORPHA:52503
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Microcephaly OMIM:618718
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Failure to thrive, Truncal obesity, Hyperactivity, Attention deficit h... ORPHA:73272
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity, Microcephaly OMIM:619239
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Hyperactivity, Hypoplasia of the corpus callosum, M... OMIM:610883
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait, Obesity ORPHA:3077
Mend Syndrome
Dandy-Walker malformation, Hyperactivity, Hydrocephalus OMIM:300960
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Optic atrophy, Dysmetria, Bradykinesia, Lewy bodies, Hyperactivity, Dysdiadochokinesis,... OMIM:610217
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Obesity OMIM:301013
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy, Microcephaly ORPHA:530983
Fragile X Syndrome
Hyperactivity, Periventricular heterotopia OMIM:300624
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss OMIM:275000
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Microcephaly ORPHA:1942
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Hypoplasia of the corpus callosum, Microcephaly, Abnormal cerebral white matter mo... ORPHA:391307
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Ataxia, Hyperactivity, Broad-based gait, Obesity, Secondary microcephaly, Hypopla... ORPHA:98794
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Hyperactivity, Inability to walk, Corpus callosum atrophy, Ataxia, Periventricu... ORPHA:168491
19P13.12 Microdeletion Syndrome
Ventriculomegaly, Hyperactivity, Obesity, Hypoplasia of the corpus callosum, Microcephaly ORPHA:254346
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Cortical dysplasia, Ataxia, Focal cortical dysplasia OMIM:610042
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Angelman Syndrome
Progressive gait ataxia, Hyperactivity, Broad-based gait, Obesity, Secondary microcephaly, Cerebr... OMIM:105830
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Hydrocephalus, Increased circulating gon... ORPHA:8
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Ventriculomegaly OMIM:618314
16P12.1P12.3 Triplication Syndrome
Failure to thrive, Hyperactivity, Attention deficit hyperactivity disorder, Decreased response to... ORPHA:485405
13Q12.3 Microdeletion Syndrome
Failure to thrive, Hyperactivity, Obesity ORPHA:412035
Intellectual Disability-Strabismus Syndrome
Gait disturbance, Failure to thrive, Hyperactivity, Decreased response to growth hormone stimulat... ORPHA:363528
Chromosome 13Q33-Q34 Deletion Syndrome
Dandy-Walker malformation, Anencephaly, Small for gestational age, Hyperactivity, Agenesis of cor... OMIM:619148
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Angelman Syndrome
Optic atrophy, Optic disc pallor, Hyperactivity, Inability to walk, Ataxia, Broad-based gait, Obe... ORPHA:72
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Failure to thrive, Shuffling gait, Hyperactivity, Decreased body weight, Microcephaly OMIM:300534
Adenylosuccinase Deficiency
Hyperactivity, Inability to walk, Cerebral atrophy, Gait ataxia, Microcephaly OMIM:103050
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Brain-Lung-Thyroid Syndrome
Dystonia, Failure to thrive, Falls, Cavum septum pellucidum, Hyperactivity, Elevated circulating ... ORPHA:209905
Brooks-Wisniewski-Brown syndrome
Optic atrophy, Small for gestational age, Hyperactivity, Cerebral atrophy, Agenesis of corpus cal... OMIM:300612
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Abnormal periventricular w... ORPHA:139396
Joubert Syndrome 1
Optic disc pallor, Occipital myelomeningocele, Optic disc coloboma, Hyperactivity, Ataxia, Microc... OMIM:213300
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Hyperactivity, Broad-based gait, Obesity, Microcephaly ORPHA:85293
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Ventriculomegaly, Hyperactivity, Hydrocephalus, Hypoplasia of the corpus ... ORPHA:457284
Koolen-De Vries Syndrome
Small for gestational age, Failure to thrive, Ventriculomegaly, Hyperactivity, Gray matter hetero... OMIM:610443
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration ORPHA:85327
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Partial agenesis of the corpus callosum, Optic atrophy, Failure to thrive, Hyperactivity, Hydroce... OMIM:619512
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Optic disc pallor, Small for gestational age, Failure to thrive, Primary microc... ORPHA:464306
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Ventriculomegaly OMIM:300486
7Q11.23 Microduplication Syndrome
Dysmetria, Abnormality of the optic disc, Simplified gyral pattern, Ventriculomegaly, Hyperactivi... ORPHA:96121
Citrullinemia Type Ii
Hyperactivity, Decreased body mass index, Cerebral edema, Lethargy ORPHA:247585
Choreoacanthocytosis
Abnormal autonomic nervous system physiology, Lingual dystonia, Caudate atrophy, Loss of ambulati... ORPHA:2388
White-Sutton Syndrome
Optic atrophy, Subcortical cerebral atrophy, Hyperactivity, Obesity, Hypoplasia of the corpus cal... ORPHA:468678
Monosomy 9Q22.3
Large for gestational age, Ventriculomegaly, Hyperactivity, Hydrocephalus, Calcification of falx ... ORPHA:77301
Dyggve-Melchior-Clausen Disease
Failure to thrive, Hyperactivity, Inability to walk, Difficulty walking, Microcephaly ORPHA:239
Stankiewicz-Isidor Syndrome
Hyperactivity, Pineal cyst, Abnormality of the optic disc OMIM:617516
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Cerebral degeneration, Optic atrophy, Bradykinesia, Hyperactivity, At... OMIM:234200
Mend Syndrome
Dandy-Walker malformation, Abnormal auditory evoked potentials, Failure to thrive, Hyperactivity,... ORPHA:401973
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Early Infantile Epileptic Encephalopathy
Dystonia, Diffuse white matter abnormalities, Failure to thrive, Episodic ataxia, Pachygyria, Hyp... ORPHA:1934
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Weight loss, Small for gestational age ORPHA:424
Hyperlysinemia
Dysmetria, Failure to thrive, Hyperactivity, Tip-toe gait, Microcephaly ORPHA:2203
Smith-Lemli-Opitz Syndrome
Dandy-Walker malformation, Hypoplasia of the frontal lobes, Aganglionic megacolon, Periventricula... OMIM:270400
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous sys... OMIM:256800
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Failure to thrive, Large for gestational age, Hyperactivity, Attention deficit hyperactivity diso... OMIM:607721
Witteveen-Kolk Syndrome
Dysplastic corpus callosum, Small for gestational age, Decreased response to growth hormone stimu... OMIM:613406
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Small for gestational age, Ventriculomegaly, Hyperactivity, Cerebral atrophy, Hypo... OMIM:309590
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Ataxia, Hippocampal atrophy, Unsteady gait, Cerebral cortical atrophy OMIM:614756
Familial Gestational Hyperthyroidism
Hyperactivity, Weight loss ORPHA:99819
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder, Vestibular Schwannoma ORPHA:137605
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Cortical tubers, Pituitary adenoma, Hyperactivity, Attention defi... ORPHA:805
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Secondary microcephaly, Hypoplasia of the corpus callosum, Primary microcephaly ORPHA:447997
Histidinemia
Hyperactivity ORPHA:2157

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 Basp1

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 Basp1.

No publications found that use IMPC mice or data for Basp1.

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MGI Allele Allele Type Produced
Basp1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Basp1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Basp1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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