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:
Hfh-e5.1,  C43,  TWH,  Fkh5,  Mf3,  Foxb1b,  Foxb1a

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 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
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Hyperintensity of cerebral white matter on MRI, Dementia OMIM:618564
Alzheimer Disease 10
Cerebral cortical atrophy, Memory impairment, Dementia OMIM:609636
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques
Substantia nigra gliosis OMIM:125320
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
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
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Rhombencephalosynapsis, Abnormal midbrain morphology, Megal... ORPHA:280195
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... OMIM:614963
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral atrophy, Short stature OMIM:616192
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Dementia, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, ... OMIM:618193
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... ORPHA:255182
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral c... OMIM:619072
Dystonia 30
Hypothalamic hamartoma, Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility... OMIM:619291
Ravine Syndrome
Decreased body weight, Abnormality of the basal ganglia, Abnormal brainstem morphology, Failure t... ORPHA:99852
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Postnatal growth retardation, Short stature, Ataxia OMIM:616113
Joubert Syndrome 10
Growth delay, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Mental deterioration, Thalamic calcification OMIM:618824
Isolated Growth Hormone Deficiency, Type V
Postnatal growth retardation, Truncal obesity, Short stature, Abdominal obesity, Microcephaly, De... OMIM:618160
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Cerebellar atrophy, Cortical dysplasia, Short stature, Microcephaly OMIM:608278
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Dementia, Hypoplasia of the... ORPHA:2822
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Abnormal midbrain morpholog... ORPHA:314621
Joubert Syndrome 32
Large for gestational age, Abnormal cerebellum morphology, Molar tooth sign on MRI, Polymicrogyria OMIM:617757
Joubert Syndrome 22
Temporal cortical atrophy, Hypoplasia of the corpus callosum, Agenesis of cerebellar vermis, Intr... OMIM:615665
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus... OMIM:604213
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:609583
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebral dysmyel... ORPHA:101070
Craniopharyngioma
Proportionate short stature, Abnormal hypothalamus morphology, Enlarged pituitary gland, Growth d... ORPHA:54595
Slc35A2-Cdg
Cerebral white matter atrophy, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, A... ORPHA:356961
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
Meckel Syndrome 13
Molar tooth sign on MRI OMIM:617562
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Failure to thrive, Short stature, Molar too... OMIM:277170
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal midbrain morphology, Abnormal hypothalamus morp... ORPHA:68
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Midline brainstem c... OMIM:617542
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superior cerebellar dyspl... OMIM:617622
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Shor... ORPHA:1532
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Memory impairment, Frontotemporal dementia, Neurofibrillary tangles, Dementia OMIM:619132
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Hydrolethalus Syndrome 2
Molar tooth sign on MRI OMIM:614120
Joubert Syndrome 16
Molar tooth sign on MRI OMIM:614465
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebra... OMIM:613153
Pontocerebellar Hypoplasia Type 10
Growth delay, Simplified gyral pattern, Abnormal brainstem morphology, Abnormal cerebral cortex m... ORPHA:411493
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Growth delay, Cerebral atrophy, Severe short stature, Smal... OMIM:619057
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Short stature, Obesity ORPHA:329249
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed social development, Hypoplasia of the brainstem, Abnormal cerebellar vermis morphology, T... ORPHA:300570
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Cerebral cortica... ORPHA:2570
Coach Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebellar vermis hypoplasia OMIM:619111
Joubert Syndrome 7
Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia OMIM:611560
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Spinocerebellar Ataxia Type 2
Cerebral white matter atrophy, Cerebellar Purkinje layer atrophy, Olivopontocerebellar hypoplasia... ORPHA:98756
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Leukoencephalopathy OMIM:613724
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death OMIM:301021
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebral atrophy, Decreased body weight, Cerebellar atrophy, Short stature, Atrophy/Degeneration ... ORPHA:445062
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Brainstem dysplasia, Agenesi... OMIM:608091
Immunoneurologic Disorder, X-Linked
Neonatal death, Small for gestational age OMIM:300076
Adult Krabbe Disease
Abnormal corpus callosum morphology, Abnormality of the medulla oblongata, Abnormal pons morpholo... ORPHA:206448
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Agenesis of cerebellar vermis, Intrauterine growt... OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyr... OMIM:615181
Congenital Disorder Of Glycosylation, Type Iii
Cerebral atrophy, Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem... OMIM:613612
Neuroferritinopathy
T2 hypointense thalamus, Abnormal caudate nucleus morphology, Subcortical dementia, Frontal lobe ... ORPHA:157846
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Diffuse white matter abnormalities, Type II lissencephaly, Cerebella... ORPHA:370959
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Proportionate short stature, In... ORPHA:759
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Rhombencephalosynapsis, Hypoplasia of the corpus callosum, Fusion of... OMIM:619306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Elon... ORPHA:370022
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Interhypothalamic Adhesion OMIM:618929
Meckel Syndrome, Type 10
Molar tooth sign on MRI OMIM:614175
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, Cer... ORPHA:444072
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Di... ORPHA:397715
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:608629
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Dementia, Abno... ORPHA:79264
Cach Syndrome
T2 hypointense thalamus, Growth delay, Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis at... ORPHA:135
Alzheimer Disease 4
Neurofibrillary tangles, Dementia, Cerebral amyloid angiopathy, Cognitive impairment, Memory impa... OMIM:606889
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Agenesis of cerebellar vermis, Dandy... ORPHA:163961
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:610688
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar... OMIM:617751
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormality of thalamus morphology, Abnormal brainstem m... ORPHA:88619
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Abnormal thalamic MRI signal intensity, Cerebellar atrophy, Secondary microcephaly,... ORPHA:485421
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar cyst, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria,... ORPHA:370997
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Abnormal brainstem morphol... ORPHA:2720
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia, Absent mesencephalon OMIM:601374
Joubert Syndrome 1
Hypoplasia of the brainstem, Brainstem dysplasia, Cerebellar vermis hypoplasia, Agenesis of cereb... OMIM:213300
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Cerebellar cyst, Cerebellar vermis hypoplasia, ... OMIM:615960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Microcephaly, Hypoplasia of the corpus callosum, Cerebellar hypoplasia OMIM:613155
47,Xyy Syndrome
Impaired social interactions, Increased circulating gonadotropin level, Cerebellar dysplasia, Abn... ORPHA:8
Japanese Encephalitis
Abnormality of thalamus morphology, Focal T2 hyperintense thalamic lesion, Abnormality of the int... ORPHA:79139
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Dementia, Cerebral atrophy, Motor deterioration, Hyperintensity of cereb... ORPHA:1947
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Pituitary ... ORPHA:251937
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Combined Oxidative Phosphorylation Defect Type 23
Cognitive impairment, Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal i... ORPHA:444013
New-Onset Refractory Status Epilepticus
Cognitive impairment, Focal T2 hyperintense basal ganglia lesion, Abnormal thalamic MRI signal in... ORPHA:363558
Hsd10 Disease
Abnormal social behavior, Postnatal growth retardation ORPHA:391417
Joubert Syndrome With Renal Defect
Polymicrogyria, Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebellar vermis hypoplasia ORPHA:220497
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Poor eye contact, Focal T2 hyperintense thalamic lesion, Failure to thrive OMIM:619046
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Cerebellar vermis hypoplasia ORPHA:2318
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Aplasia/Hypoplasia of the corpus callosum, Growth delay, Cerebellar vermi... ORPHA:2754
Crome Syndrome
Microcephaly, Cerebellar dysplasia, Short stature OMIM:218900
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ab... ORPHA:70474
Coach Syndrome 1
Growth delay, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the ce... OMIM:216360
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cells in the cerebellar vermis, Ab... ORPHA:98755
Joubert Syndrome 8
Molar tooth sign on MRI OMIM:612291
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Anterior hypopituitarism OMIM:241800
Joubert Syndrome With Ocular Defect
Polymicrogyria, Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebellar vermis hypoplasia ORPHA:220493
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity, Hypoplasia of the corpus callosum, Abnormal cerebral whi... ORPHA:254930
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Impaired social interactions, Gonadotropin deficiency, Abnormal midbrain morphology, Decreased re... ORPHA:293987
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Panhypophysitis
Panhypopituitarism, Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal th... ORPHA:95513
Leigh Syndrome
Abnormal brainstem MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Hypoplasia o... ORPHA:506
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Diffuse white matter abnormalities, Hypointensity of cer... ORPHA:83597
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Cognitive impairment, Memory impairment, Abnormal thalamic MRI signal intensity ORPHA:70595
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions, Short... ORPHA:557003
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity, Failure to thrive, Abnormal basal ganglia MRI signal int... ORPHA:51188
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Cerebellar dysplasia, Short stature, Microcephaly, Decreased response to growth hormo... ORPHA:457240
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polymicrogyria, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Anencephaly OMIM:616546
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the brainstem, Abnormal periventricular white matter morphology, Hypoplasia of the ... ORPHA:500159
Chiari Malformation Type Ii
Opisthotonus, Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Arima Syndrome
Hypoplasia of the brainstem, Brainstem dysplasia, Agenesis of cerebellar vermis, Dilated fourth v... OMIM:243910
Adenohypophysitis
Panhypopituitarism, Pituitary hypothyroidism, Abnormal thalamic MRI signal intensity, Adrenocorti... ORPHA:95512
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Abnormality of the diencephalon ORPHA:2165
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia, Fusion of the cerebellar hemispheres... ORPHA:59315
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior, Obesity ORPHA:444002
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Ce... OMIM:617822
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:616300
Aceruloplasminemia
Cognitive impairment, Memory impairment, Abnormal corpus striatum morphology, Abnormal thalamic M... ORPHA:48818
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Microcephaly, Cognitive impairment ORPHA:2959
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Postnat... ORPHA:2177
Joubert Syndrome 5
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebe... OMIM:610188
Dyskeratosis Congenita, Autosomal Recessive 5
Intrauterine growth retardation, Microcephaly, Cerebellar hypoplasia, Postnatal growth retardation OMIM:615190
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Cerebellar cyst, Partial absence ... OMIM:613150
Familial Cerebral Saccular Aneurysm
Encephalomalacia, Abnormal brainstem morphology ORPHA:231160
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hypoplasia of the corpus callosum, Postnatal growth retardation, Anterior... OMIM:206900
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Abnormal social behavior ORPHA:530983
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Schisis Association
Spina bifida, Anencephaly ORPHA:63862
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy ORPHA:435638
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Meningioma
Focal T2 hypointense thalamic lesion, Brain stem compression, Enlarged pituitary gland, Hypothala... ORPHA:2495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Cerebellar malformation, Pachygyria, Type II lissencephaly, Hypoplas... OMIM:236670
Orofaciodigital Syndrome Type 14
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Dilated third ventricle, Molar tooth... ORPHA:434179
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology ORPHA:404440
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Dopa-Responsive Dystonia
Abnormal social behavior ORPHA:255
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Orofaciodigital Syndrome Xiv
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Polymicrogyria, Simplified gyral patter... OMIM:615948
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Porencephalic cyst, Abnormal cerebellum morphology, Abnormal cortical gyr... OMIM:311200
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Hereditary Cryohydrocytosis With Reduced Stomatin
Cerebral white matter hypoplasia, Intracerebral periventricular calcifications, Postnatal growth ... ORPHA:168577
Fragile X-Associated Tremor/Ataxia Syndrome
Cerebral cortical atrophy, Abnormal brainstem morphology, Diffuse cerebellar atrophy ORPHA:93256
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Polymicrogyria, Failur... OMIM:156810
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Birth length less than 3rd percenti... ORPHA:464311
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Tay-Sachs Disease
Memory impairment, Hypointensity of cerebral white matter on MRI, Abnormal thalamic MRI signal in... ORPHA:845
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
Cerebrocostomandibular Syndrome
Spina bifida, Meningocele, Hydranencephaly, Intrauterine growth retardation, Myelomeningocele ORPHA:1393
Pallister-Hall Syndrome
Panhypopituitarism, Hypothalamic hamartoma, Neonatal death, Short stature, Intrauterine growth re... OMIM:146510
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Semilobar Holoprosencephaly
Panhypopituitarism, Growth delay, Abnormal hypothalamus physiology, Abnormal brainstem morphology... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Growth delay, Abnormal hypothalamus physiology, Abnormal brainstem morphology... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Growth delay, Abnormal hypothalamus physiology, Abnormal brainstem morphology... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Growth delay, Abnormal hypothalamus physiology, Abnormal brainstem morphology... ORPHA:93924
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus ... OMIM:253280
Iniencephaly
Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Myelomeningocele, Hydrocephalus ORPHA:63259
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Fg Syndrome Type 1
Slender build, Abnormal social behavior, Short stature ORPHA:93932
48,Xxxy Syndrome
Abnormal social behavior, Obesity ORPHA:96263
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:610828
Neu-Laxova Syndrome
Intrauterine growth retardation, Opisthotonus, Spina bifida ORPHA:2671
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Cog1-Cdg
Temporal cortical atrophy, Rhizomelia, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Postna... ORPHA:263508
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Ectopic posterior pituitary, Bilateral perisy... ORPHA:98889
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus ORPHA:3412
Mosaic Trisomy 9
Intrauterine growth retardation, Spina bifida ORPHA:99776
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Trisomy 18
Intrauterine growth retardation, Holoprosencephaly, Spina bifida, Anencephaly ORPHA:3380
Norrie Disease
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Delayed puberty, Abnormality of ... ORPHA:649
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Pallister-Hall Syndrome
Panhypopituitarism, Hypothalamic hamartoma, Arrhinencephaly, Cerebellar hypoplasia, Pituitary hyp... ORPHA:672
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the basal ganglia, Thalamic hemorrhage, Cerebral calcification ORPHA:464321
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Abnormal social behavior, Short stature, Intrauterine growth retard... ORPHA:177907
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Williams Syndrome
Overfriendliness, Abnormal social behavior, Failure to thrive in infancy, Cerebral cortical atrop... ORPHA:904
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Fibular Hemimelia
Spina bifida ORPHA:93323
Nail-Patella Syndrome
Spina bifida OMIM:161200
22Q11.2 Deletion Syndrome
Spina bifida, Hydrocephalus, Hypothyroidism, Arrhinencephaly, Umbilical hernia, Meningocele, Intr... ORPHA:567
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia ORPHA:2092
Mend Syndrome
Abnormal social behavior, Failure to thrive, Short stature ORPHA:401973
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Stillbirth, Hydranencephaly, Intrauterine growth retardation,... OMIM:256520
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus OMIM:109400
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Overfriendliness, Abnormal social behavior, Postnatal growth retardation, Small fo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Overfriendliness, Abnormal social behavior, Postnatal growth retardation, Small fo... ORPHA:363958
Limb Body Wall Complex
Spina bifida, Short umbilical cord, Anencephaly, Spina bifida occulta, Myelomeningocele, Hydrocep... ORPHA:2369
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Exocrine pancreatic insufficiency ORPHA:508498
Jacobsen Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2308
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
Pagod Syndrome
Meningocele, Spina bifida ORPHA:991
Fanconi Anemia
Intrauterine growth retardation, Spina bifida, Hydrocephalus, Umbilical hernia ORPHA:84
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Aicardi Syndrome
Spina bifida OMIM:304050
Schinzel-Giedion Syndrome
Central hypothyroidism, Umbilical hernia, Neural tube defect ORPHA:798
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Split Cord Malformation
Cervical spina bifida, Meningocele, Lipomyelomeningocele, Myelomeningocele, Hydrocephalus ORPHA:573278
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646
Vater/Vacterl Association
Intrauterine growth retardation, Spina bifida, Patent urachus OMIM:192350
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus 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

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

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