banner
Genes Phenotypes Help, News, Blog

Gene: Foxb1 MGI:1927549

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
forkhead box B1
Synonyms:
TWH,  C43,  Mf3,  Fkh5,  Hfh-e5.1,  Foxb1a,  Foxb1b

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Foxb1 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 Foxb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques
Substantia nigra gliosis OMIM:125320
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Short st... OMIM:614963
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Cognitive impairment ORPHA:397725
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Ataxia, Dystonia, Short stature OMIM:616113
Septopreoptic Holoprosencephaly
Rhombencephalosynapsis, Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morph... ORPHA:280195
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Short stature, Truncal ... OMIM:618160
Joubert Syndrome 10
Growth delay, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... OMIM:609583
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Decreased body weight, Abnormal hypothalamus morphology, Shor... ORPHA:314621
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology ORPHA:99852
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Mental deterioration, Thalamic calcification OMIM:618824
Orofaciodigital Syndrome Vi
Failure to thrive, Short stature, Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Molar too... OMIM:277170
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
Meckel Syndrome 13
Molar tooth sign on MRI OMIM:617562
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Craniopharyngioma
Growth delay, Enlarged pituitary gland, Postnatal growth retardation, Abnormal hypothalamus morph... ORPHA:54595
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:619072
Joubert Syndrome 30
Dandy-Walker malformation, Superior cerebellar dysplasia, Molar tooth sign on MRI, Cerebellar atr... OMIM:617622
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal brainstem morphology, Shor... ORPHA:1532
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Memory impairment, T2 hypointense thalamus, Dementia OMIM:618193
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Joubert Syndrome 32
Large for gestational age, Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Joubert Syndrome 16
Molar tooth sign on MRI OMIM:614465
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Joubert Syndrome 22
Intrauterine growth retardation, Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Hydrolethalus Syndrome 2
Molar tooth sign on MRI OMIM:614120
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormal cerebellum morphology, Abnormal hypothalamus morphology, Abnor... ORPHA:68
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Autosomal Recessive Spastic Paraplegia Type 11
Mental deterioration, Hypothalamic atrophy, Memory impairment, Dementia ORPHA:2822
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Severe short stature, Small for gestational age, Growth de... OMIM:619057
Slc35A2-Cdg
Short stature, Atrophy/Degeneration affecting the brainstem, Elevated circulating thyroid-stimula... ORPHA:356961
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Fusion of the left and right thalami, Hypoplasia of the pons OMIM:617542
Immunoneurologic Disorder, X-Linked
Neonatal death, Small for gestational age OMIM:300076
Bilateral Frontoparietal Polymicrogyria
Abnormal cerebellum morphology, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Cerebellar ... ORPHA:101070
Joubert Syndrome 7
Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem OMIM:611560
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Failure to thrive, Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Central Precocious Puberty
Hypothalamic hamartoma, Proportionate short stature, Increased body weight, Increased circulating... ORPHA:759
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Small pituitary gland, Short stature, Infe... OMIM:619476
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Abnormal brainstem morphology, ... ORPHA:370022
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic Adhesion OMIM:618929
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Fusion of the left and r... OMIM:619306
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Dementia, Motor deterioration, T2 hypointense thalamus, Cognitive impairment ORPHA:1947
Joubert Syndrome 37
Obesity, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Short stature OMIM:619185
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619111
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... OMIM:610688
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology OMIM:613724
Joubert Syndrome 35
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:618161
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Meckel Syndrome, Type 10
Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:614175
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:608629
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Abnormal cerebellum morphology, Hypoplasia of the pons, Dilated fourth... ORPHA:370959
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar dysplasia, Cerebellar cyst, Hypoplasia ... OMIM:615181
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... ORPHA:231720
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Cerebellar dysplasi... OMIM:613153
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Meckel Syndrome, Type 4
Intrauterine growth retardation, Dandy-Walker malformation, Molar tooth sign on MRI, Agenesis of ... OMIM:611134
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal cerebellar vermis morphology, Cerebellar hypoplasia, Abnormality of thalamus morphology,... ORPHA:300570
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Intrauterine growth retardation, Abnormality of the diencephalon, Aplasia/Hypoplasia of the cereb... ORPHA:2570
Cerebellar-Facial-Dental Syndrome
Failure to thrive, Severe short stature, Hypoplasia of the pons, Cerebellar hypoplasia, Inferior ... ORPHA:444072
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Progressive language deterioration, Cognitive impairment, ... ORPHA:79264
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology, Cerebellar dysplasia, Increas... ORPHA:8
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elongated superior cerebellar peduncle, Failure to thrive, Abnormal cerebellum morphology, Rhizom... ORPHA:397715
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Failure to thrive, Dysgenesis of the cerebellar vermis, A... OMIM:608091
Gangliocytoma
Abnormality of the pituitary gland, Abnormal cerebellum morphology, Pituitary null cell adenoma, ... ORPHA:251937
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Abnormal nonverbal communicative behavior, Abnormal thalamic MRI signal intensity, ... ORPHA:485421
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Poor eye contact, Abnormal social behavior ORPHA:444002
Cach Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, T2 hypointense thalamus, Atrophy/Degeneratio... ORPHA:135
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal brainstem morphology, Abnormal brainstem MRI signal ... ORPHA:88619
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphol... ORPHA:2720
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Failure to thrive, Poor eye contact OMIM:619046
Hsd10 Disease
Postnatal growth retardation, Abnormal social behavior ORPHA:391417
Orofaciodigital Syndrome Type 6
Failure to thrive, Short stature, Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Growth de... ORPHA:2754
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal pons morphology, Abnormal substantia nigra morpho... ORPHA:79139
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity ORPHA:444013
Neuroferritinopathy
Cognitive impairment, T2 hypointense thalamus, Subcortical dementia, Frontal lobe dementia, Abnor... ORPHA:157846
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Dysgenesis of the cerebellar vermis, Cerebellar hypoplasia, Cerebellar ... OMIM:617751
Coach Syndrome 1
Growth delay, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aplasia/Hypoplasia of the ce... OMIM:216360
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal ... ORPHA:163961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Opisthotonus, Spina bifida, Cervical myelopathy OMIM:207950
Joubert Syndrome 8
Molar tooth sign on MRI OMIM:612291
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecting the brainstem, Ce... ORPHA:98755
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, Cognitive impairment ORPHA:363558
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Hypothalamic hamartoma OMIM:241800
Joubert Syndrome 39
Overweight, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619562
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity, Memory impairment, Cognitive impairment ORPHA:70595
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Sh... ORPHA:293987
Joubert Syndrome 1
Elongated superior cerebellar peduncle, Dysgenesis of the cerebellar vermis, Agenesis of cerebell... OMIM:213300
Panhypophysitis
Adrenocorticotropic hormone deficiency, Reduced circulating prolactin concentration, Panhypopitui... ORPHA:95513
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:300573
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Poretti-Boltshauser Syndrome
Cerebellar cyst, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia OMIM:615960
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Disproportionate short-limb short stature, Molar tooth sign on MRI, Dysgenesis of the cerebellar ... OMIM:619479
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Overweight, Cerebellar dysplasia, Short st... ORPHA:457240
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:2318
Arima Syndrome
Aplasia/Hypoplasia of the cerebellar vermis, Dilated fourth ventricle, Agenesis of cerebellar ver... OMIM:243910
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Reduced circulating prolactin concentration, Panhypopitui... ORPHA:95512
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:220497
Combined Oxidative Phosphorylation Defect Type 7
Failure to thrive, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity ORPHA:254930
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothalamic hamartoma OMIM:619908
Schisis Association
Encephalocele, Spina bifida, Anencephaly ORPHA:63862
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Abnormal pons morphology, Cerebellar cyst, Abnormal brainstem morph... ORPHA:370997
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Short stature ORPHA:557003
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:220493
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Impaired social interactions, Hypothalamic hamartoma OMIM:619775
Rhombencephalosynapsis
Fusion of the left and right thalami, Fusion of the cerebellar hemispheres, Agenesis of cerebella... ORPHA:59315
Leigh Syndrome
Failure to thrive, Abnormal brainstem MRI signal intensity, Olivopontocerebellar atrophy, Abnorma... ORPHA:506
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Failure to thrive, Abnormal brainstem morphology ORPHA:70474
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain, Short stature OMIM:616202
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:616300
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia, Absent mesencephalon OMIM:601374
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Cognitive impairment ORPHA:2959
Acute Disseminated Encephalomyelitis
Abnormal cerebellum morphology, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI si... ORPHA:83597
Crome Syndrome
Cerebellar dysplasia, Short stature OMIM:218900
Aceruloplasminemia
Abnormal thalamic MRI signal intensity, Memory impairment, Cognitive impairment ORPHA:48818
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation ORPHA:1327
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Abnormal social behavior ORPHA:530983
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology ORPHA:404440
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Joubert Syndrome 5
Agenesis of cerebellar vermis, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, A... OMIM:610188
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:616546
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology ORPHA:435638
Meningioma
Abnormal cerebellum morphology, Enlarged pituitary gland, Reduced circulating prolactin concentra... ORPHA:2495
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Postnatal growth retardation, Thalamic edem... ORPHA:2177
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta ORPHA:2437
Dopa-Responsive Dystonia
Abnormal social behavior ORPHA:255
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Meckel Syndrome, Type 1
Intrauterine growth retardation, Dilated fourth ventricle, Cerebellar hypoplasia, Chiari malforma... OMIM:249000
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar hypoplasia, Partial absence of cerebellar vermis, Cerebellar dysplasia, Cerebellar cys... OMIM:613150
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dilated third ventricle, Molar tooth sign on MRI, Dandy-Walker malforma... ORPHA:434179
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity, Memory impairment ORPHA:845
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Small for gestational age, Birth length less than 3rd percentile, Abnormal bra... ORPHA:464311
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Encephalocele... ORPHA:63259
Cerebrocostomandibular Syndrome
Myelomeningocele, Hydranencephaly, Meningocele, Spina bifida, Intrauterine growth retardation ORPHA:1393
Wilson Disease
Face of the giant panda sign OMIM:277900
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Hypothalamic hamartoma, Short stature, Pan... OMIM:146510
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume, Postnatal growth retardation, Short stature ORPHA:168577
Microphthalmia, Syndromic 3
Postnatal growth retardation, Short stature, Anterior pituitary hypoplasia, Hypothalamic hamartoma OMIM:206900
Fg Syndrome Type 1
Slender build, Abnormal social behavior, Short stature ORPHA:93932
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
48,Xxxy Syndrome
Obesity, Abnormal social behavior ORPHA:96263
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Neu-Laxova Syndrome
Spina bifida, Intrauterine growth retardation, Opisthotonus ORPHA:2671
Orofaciodigital Syndrome Xiv
Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:615948
Microgastria-Limb Reduction Defects Association
Failure to thrive, Fusion of the left and right thalami OMIM:156810
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation ORPHA:3412
Neu-Laxova Syndrome 2
Spina bifida, Intrauterine growth retardation OMIM:616038
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Orofaciodigital Syndrome I
Cerebellar cyst, Short stature, Hypothalamic hamartoma OMIM:311200
Semilobar Holoprosencephaly
Failure to thrive, Decreased response to growth hormone stimulation test, Short stature, Panhypop... ORPHA:220386
Alobar Holoprosencephaly
Failure to thrive, Decreased response to growth hormone stimulation test, Short stature, Panhypop... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Failure to thrive, Decreased response to growth hormone stimulation test, Short stature, Panhypop... ORPHA:93926
Lobar Holoprosencephaly
Failure to thrive, Decreased response to growth hormone stimulation test, Short stature, Panhypop... ORPHA:93924
Mosaic Trisomy 9
Spina bifida, Intrauterine growth retardation ORPHA:99776
Trisomy 18
Intrauterine growth retardation, Spina bifida, Anencephaly, Holoprosencephaly ORPHA:3380
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami OMIM:610828
Hallermann-Streiff Syndrome
Choreoathetosis, Spina bifida OMIM:234100
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Short stature, Obesity, Impaired social interactions, Intrauterine grow... ORPHA:177907
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Pallister-Hall Syndrome
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Hypothalamic hamartoma, Short s... ORPHA:672
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage ORPHA:464321
Nail-Patella Syndrome
Spina bifida OMIM:161200
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Short umbilical cord, Anencephaly, Spina bifida occulta, Encepha... ORPHA:2369
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hydrocephalus, Hyperthyroidism, Arrhinencephaly, Hypothyroidism, Umbilical he... ORPHA:567
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia ORPHA:2092
Williams Syndrome
Overfriendliness, Abnormal social behavior, Short stature, Abnormality of the diencephalon, Chiar... ORPHA:904
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Fibular Hemimelia
Spina bifida ORPHA:93323
Neu-Laxova Syndrome 1
Stillbirth, Short umbilical cord, Hydranencephaly, Small placenta, Spina bifida, Intrauterine gro... OMIM:256520
Norrie Disease
Failure to thrive, Cachexia, Abnormality of the diencephalon, Aplasia/Hypoplasia of the cerebellu... ORPHA:649
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Basal Cell Nevus Syndrome
Hydrocephalus, Spina bifida OMIM:109400
Mend Syndrome
Abnormal social behavior, Failure to thrive, Short stature ORPHA:401973
Pagod Syndrome
Encephalocele, Spina bifida, Meningocele ORPHA:991
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Spina bifida ORPHA:508498
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Overfriendliness, Abnormal social behavior, Small for gestational age, Postnatal g... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Overfriendliness, Abnormal social behavior, Small for gestational age, Postnatal g... ORPHA:363958
Jacobsen Syndrome
Spina bifida, Intrauterine growth retardation ORPHA:2308
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Spina bifida OMIM:619480
Fanconi Anemia
Hydrocephalus, Spina bifida, Intrauterine growth retardation, Umbilical hernia ORPHA:84
Campomelic Dysplasia
Spinal dysraphism, Spina bifida, Hydrocephalus OMIM:114290
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
Aicardi Syndrome
Spina bifida OMIM:304050
Neurofibromatosis, Type I
Hydrocephalus, Spina bifida, Aqueductal stenosis OMIM:162200
Rubinstein-Taybi Syndrome 1
Spina bifida, Spina bifida occulta OMIM:180849
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Split Cord Malformation
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Meningocele, Lipomyelomeningocele ORPHA:573278
Vater/Vacterl Association
Intrauterine growth retardation, Spina bifida, Occipital encephalocele, Patent urachus OMIM:192350
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322

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 Foxb1

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 Foxb1.

No publications found that use IMPC mice or data for Foxb1.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Foxb1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter