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Gene: Hoxb1 MGI:96182

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
homeobox B1
Synonyms:
Hox-2.9

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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 Hoxb1 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 Hoxb1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Facial palsy, Micrognathia, Downturned corners of mouth, High palate,... OMIM:614744

The table below shows human diseases predicted to be associated to Hoxb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Vocal cord par... OMIM:607641
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Micrognathia, Knee flexion contracture, F... OMIM:616286
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis OMIM:158580
Lethal Congenital Contracture Syndrome 8
Death in infancy, Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, ... OMIM:616287
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Par... OMIM:605285
Lethal Congenital Contracture Syndrome 3
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... OMIM:611369
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paralysis OMIM:608634
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Peripheral axonal neuropathy, Paralysis OMIM:613710
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Proximal muscle weakness in upper limbs, Decreased motor nerve co... OMIM:607706
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Abnormality of the seventh cranial nerve, Upper limb muscle weakness, Limb fasciculations... ORPHA:90117
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand... OMIM:162500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Quadriceps muscle weakness, ... ORPHA:99947
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... ORPHA:101097
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Vocal cord paresis, Decreased... OMIM:614895
Nemaline Myopathy 10
Skeletal muscle atrophy, Death in infancy, Facial palsy, Fatty replacement of skeletal muscle, Fl... OMIM:616165
Hypokalemic Periodic Paralysis
Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increased intramyocellular li... ORPHA:681
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Charcot-Marie-Tooth Disease Type 4A
Frequent falls, Hand muscle weakness, Decreased nerve conduction velocity, Quadriceps muscle weak... ORPHA:99948
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Death in child... OMIM:620265
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... ORPHA:98897
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Cerebellar atrophy, Substantia nigra glios... ORPHA:276244
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia OMIM:257100
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... ORPHA:98757
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Decreased motor nerve conduction velocity, Limb joint contracture, Micrognath... OMIM:618186
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... ORPHA:101112
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Cerebellar atrophy, Substantia nigra glios... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Cerebellar atrophy, Substantia nigra glios... ORPHA:276241
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber... OMIM:620161
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Snakebite Envenomation
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory paralysis, Muscle fiber necrosis, ... ORPHA:449285
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Ataxia, Facial palsy, Abnormal cere... OMIM:211530
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:615490
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Neonatal death, Retrognathia OMIM:615524
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness, Paralysis OMIM:612300
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Tremor, Decreased nerve conduction velocity, Vocal cord par... ORPHA:397744
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Athetosis, Amyotrophic lateral sclerosis, Paralysis OMIM:300857
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Spasticity ORPHA:803
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Abnormal substantia nigra mor... ORPHA:79139
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Periodic paralysis OMIM:170400
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber... OMIM:226670
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Death in infancy, Death in early adulthood, Periodic hyperkalemic paraly... ORPHA:682
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Micrognathia, Paucity of anterior horn mo... OMIM:253310
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Scapular winging, Dental crowding, Short mandibular rami, Periodic para... OMIM:170390
Tick-Borne Encephalitis
Speech apraxia, Skeletal muscle atrophy, Abnormal medulla oblongata morphology, Incoordination, F... ORPHA:297
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... ORPHA:600
Arthrogryposis Multiplex Congenita 6
Death in infancy, Death in childhood, Neonatal death, Increased variability in muscle fiber diame... OMIM:619334
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Myelopathy, Cranial nerve compression, Babinsk... ORPHA:268882
Variegate Porphyria
Paralysis OMIM:176200
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... ORPHA:43
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Polyminimyoclo... OMIM:619574
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre... OMIM:606071
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis ORPHA:684
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tongue atrophy, Decreased distal sensory nerve action po... ORPHA:99956
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Limb muscle weakness... OMIM:601152
Myasthenic Syndrome, Congenital, 16
High palate, Periodic paralysis OMIM:614198
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis OMIM:188580
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:261
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Abnormal motor nerve conductio... ORPHA:2912
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Hyd... OMIM:259710
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Decreased motor nerve conduction velocity, Tongue atrophy, Decreased number o... ORPHA:99949
Pseudohypoaldosteronism Type 2
Abnormality of the dentition, Abnormal dental enamel morphology, Periodic paralysis ORPHA:757
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Andersen-Tawil Syndrome
Thin upper lip vermilion, Periodic hyperkalemic paralysis, Abnormality of dental color, Dental cr... ORPHA:37553
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Tetraplegia, Respiratory par... ORPHA:79102
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Vocal cord paralysis, Chiari type I malformation, Abnormal... ORPHA:221098
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion, Abnormal autonomic nervous system physiology, Paralysis ORPHA:83601
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Abnormal skeletal muscle morphology ORPHA:142
Leprosy
Skeletal muscle atrophy, Abnormality of the seventh cranial nerve, Abnormal facial skeleton morph... ORPHA:548
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclon... ORPHA:500144
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Ichthyosis, Congenital, Autosomal Recessive 2
Everted lower lip vermilion, Paralysis OMIM:242100
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Paragang... ORPHA:94080
Gitelman Syndrome
Rhabdomyolysis, Ataxia, Paralysis OMIM:263800
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Glioblastoma
Paralysis ORPHA:360
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis, Optic atrophy, Flexion contracture of the 2nd finger, Widely spa... ORPHA:324540
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma, Chemodectoma, Glom... OMIM:605373
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Rift Valley Fever
Miscarriage, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity, Gingival bleeding ORPHA:319251
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Micrognathia, Abnormality of the gingiva, Vocal... ORPHA:798
Mucopolysaccharidosis Type 3
Vocal cord paresis, Craniofacial hyperostosis, Ataxia, Abnormality of the dentition, Hydrocephalu... ORPHA:581
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Dental crowding, Delayed eruption of primary t... OMIM:617799
Inhalational Botulism
Paralysis ORPHA:254504
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia,... ORPHA:2396
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:276621
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis OMIM:203700
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Facial palsy, Micrognathia, Downturned corners of mouth, High palate,... OMIM:614744
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Dental malocclusion, Optic nerve compression OMIM:259730
Gitelman Syndrome
Rhabdomyolysis, Paralysis ORPHA:358
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:29072
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Hypertonia, Oculomotor ap... ORPHA:2072
African Trypanosomiasis
Papilledema, Abnormal central motor function, Miscarriage, Involuntary movements, Paralysis, Trem... ORPHA:3385
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Unilateral vocal cord paralysis, Retrognathia, Downturned corners of mouth, W... OMIM:301030
Degcags Syndrome
Protruding tongue, Micrognathia, Vocal cord paralysis, Wide mouth, Thick vermilion border, High p... OMIM:619488
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Williams-Beuren Syndrome
Incoordination, Thick lower lip vermilion, Flexion contracture, Vocal cord paralysis, Poor coordi... OMIM:194050
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Feingold Syndrome 1
Micrognathia, Vocal cord paralysis, High palate, Everted lower lip vermilion, Thick vermilion border OMIM:164280
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Igg4-Related Thyroid Disease
Sialadenitis, Vocal cord paralysis ORPHA:64744
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis ORPHA:91347

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 Hoxb1

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 Hoxb1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A calcineurin-Hoxb13 axis regulates growth mode of mammalian cardiomyocytes. Nature (April 2020) Hoxb13tm1a(KOMP)Wtsi 32499640

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MGI Allele Allele Type Produced
Hoxb1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hoxb1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Hoxb1tm119038(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hoxb1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hoxb1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Hoxb1tm119038(L1L2_gt1_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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