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Gene: Bptf MGI:2444008

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Gene Summary

Name:
bromodomain PHD finger transcription factor
Synonyms:
9430093H17Rik,  Falz

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Bptfem1(IMPC)Bay HET Early adult 9.28×10-07
abnormal bone structure Bptfem1(IMPC)Bay HET   Early adult 2.11×10-05
decreased body length Bptfem1(IMPC)Bay HET Early adult 8.83×10-05
vertebral fusion Bptfem1(IMPC)Bay HET   Early adult 8.94×10-05
preweaning lethality, incomplete penetrance Bptfem1(IMPC)Bay HOM   Early adult 0.00
preweaning lethality, complete penetrance Bptfem1(IMPC)Bay HOM Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Forepaw

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X-ray

XRay Images Skull Lateral Orientation

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Human diseases caused by Bptf 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 Bptf by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
17Q24.2 Microdeletion Syndrome
Abnormality of the ankle, Abnormality of the wrist, Cubitus valgus, Short neck, Scoliosis ORPHA:529962
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Short stature OMIM:617755

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... OMIM:610017
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio... OMIM:618469
Spondylocostal Dysostosis 5
Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis OMIM:122600
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal stenosis, Carpal s... OMIM:178110
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Vertebral segmentation defect OMIM:618845
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... OMIM:113000
Christian Syndrome
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Short neck, Abnormal sacrum... ORPHA:2345
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Kniest Dysplasia
Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Vertebral wed... ORPHA:485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis OMIM:606612
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner... ORPHA:90650
Developmental And Speech Delay Due To Sox5 Deficiency
Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis ORPHA:313892
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Short neck,... OMIM:613686
Kbg Syndrome
Persistent open anterior fontanelle, Delayed skeletal maturation, Short neck, Vertebral fusion, S... ORPHA:2332
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Hemiverte... ORPHA:2916
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis OMIM:607155
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab... OMIM:312150
Verheij Syndrome
Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis, Hip dislocation OMIM:615583
Ring Chromosome 21 Syndrome
Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve... OMIM:135100
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab... OMIM:253290
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Joint hypermobility, Abnormality of the cervical spine,... ORPHA:915
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Partial fusion of tarsals, Interphalangeal joint contracture of finger... OMIM:305620
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusion OMIM:118100
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... OMIM:203500
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Shoulder dislocation, Generalized joint hypermobility, Cervical C2/... OMIM:618000
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, Flexi... OMIM:616549
Spondylocarpotarsal Synostosis Syndrome
Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturation, Carpal synostos... OMIM:272460
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Osteomyelitis, Joint swelling, Osteolysis, Fused cervical vertebrae OMIM:612852
Larsen Syndrome
Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow dislocation, Tracheomalac... OMIM:150250
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae ORPHA:2522
Lateral Meningocele Syndrome
Sclerosis of skull base, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Short ne... OMIM:130720
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Short neck, Thoracolumbar scoliosis,... OMIM:265000
Koolen-De Vries Syndrome
Hip dislocation, Joint hypermobility, Vertebral segmentation defect, Vertebral fusion, Scoliosis,... ORPHA:96169
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Supernumerary vertebrae, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis OMIM:271520
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypoplastic vertebral bodies, Scoliosis, Abnor... ORPHA:3027
Lamb-Shaffer Syndrome
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae ORPHA:530983
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint... OMIM:151200
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Koolen-De Vries Syndrome
Kyphosis, Spondylolisthesis, Joint hypermobility, Vertebral fusion, Scoliosis, Hip dislocation, S... OMIM:610443
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Camptodactyly, Joint hypermobility OMIM:617333
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Limited pronation/supination of forearm, Ve... ORPHA:1724
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Camptodactyly of finger, Carpal synostosis, Increa... ORPHA:90652
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Accelerated skeletal maturation, Osteoporosis, Scoliosis, Kyphosis OMIM:617190
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Joint hypermobility, Short neck, Beaking of vertebral bodies, Vertebral fusion, Hemivertebrae, Cr... OMIM:213980
Basal Cell Nevus Syndrome 1
Vertebral wedging, Kyphoscoliosis, Hemivertebrae, Irregular ossification of hand bones, Vertebral... OMIM:109400
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Hemivertebrae, Vertebral fusion, Scoliosis ORPHA:377
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Delayed skeletal maturation, Delayed cranial suture closure, Thoracic hemiver... OMIM:268310
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Arnold-Chiari Malformation Type I
Fatigable weakness of swallowing muscles, Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly... ORPHA:268882
Frontometaphyseal Dysplasia
Joint contracture of the hand, Interphalangeal joint contracture of finger, Camptodactyly of fing... ORPHA:1826
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar scoliosis, Lumbar hyperlordosis, Cervical C2/C3 vertebral fusion OMIM:617796
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Genu varum, Patellar dislocation, Scoliosis, Hip dislocation, ... ORPHA:3320
Kbg Syndrome
Delayed skeletal maturation, Short neck, Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis OMIM:148050
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Butterfly vertebrae, Fused cervical vertebrae OMIM:619227
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Microphthalmia, Syndromic 3
Vertebral fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia OMIM:206900
Acro-Renal-Ocular Syndrome
Radial club hand, Vertebral fusion, Vertebral segmentation defect ORPHA:959
Myhre Syndrome
Platyspondyly, Limitation of joint mobility, Joint stiffness, Enlarged vertebral pedicles, Short ... OMIM:139210
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Flat acetabular roof, Fused cervical vertebrae OMIM:617159
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Coronal craniosynostosis, Synostosi... OMIM:101200
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Short neck, Camptodactyly, Spina bifida occulta, Abnormal ... ORPHA:233
Atelosteogenesis, Type I
Elbow dislocation, Knee dislocation, Thoracic platyspondyly, Short neck, Vertebral hypoplasia, Co... OMIM:108720
Faciodigitogenital Syndrome, Autosomal Recessive
Camptodactyly, Vertebral fusion, Hyperextensible hand joints OMIM:227330
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypermobility of interphalangeal joints, Thoracic hemivertebrae, Thoracic kyphosis, Generalized j... ORPHA:508498
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Camptodactyly of finger, Vertebral segmentation defect, Short neck, A... ORPHA:373
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Wolf-Hirschhorn Syndrome
Hip dislocation, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Radioulnar s... OMIM:194190
Aicardi Syndrome
Block vertebrae, Scoliosis, Butterfly vertebrae, Hemivertebrae OMIM:304050
Duane-Radial Ray Syndrome
Spina bifida occulta, Shoulder dislocation, Scoliosis, Fused cervical vertebrae OMIM:607323
Aicardi Syndrome
Block vertebrae, Scoliosis, Butterfly vertebrae ORPHA:50
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect ORPHA:87
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Elbow contracture, Hip contracture, Camptodactyly, Dislocated radial ... OMIM:617137
Robinow Syndrome
Hemivertebrae, Scoliosis, Kyphoscoliosis, Fused thoracic vertebrae ORPHA:97360
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia OMIM:616368
Cardiospondylocarpofacial Syndrome
Delayed skeletal maturation, Fusion of middle ear ossicles, Carpal synostosis, Herniation of inte... OMIM:157800
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Patellar aplasia, Carpal bone hypoplasia, Genu varum, Patellar dislocation, Hi... OMIM:274000
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Block vertebrae, Absence of the sacrum OMIM:306955
Chromosome 16P13.3 Duplication Syndrome
Cervical C5/C6 vertebrae fusion, Short neck, Camptodactyly, Tracheobronchomalacia, Hip dislocatio... OMIM:613458
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Contracture of the distal interphalangeal joint of the fingers, Cleft v... ORPHA:83617
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Tracheomalacia, Cervical C2/C3 vertebral fusion, Wormian bones, Hi... ORPHA:444077
Generalized Arterial Calcification Of Infancy
Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ... ORPHA:51608
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion OMIM:211380
Craniofacial Microsomia 1
Block vertebrae, Genu valgum, Hemivertebrae, Scoliosis, Vertebral hypoplasia OMIM:164210
Holt-Oram Syndrome
Elbow dislocation, Limited elbow extension, Thoracic scoliosis, Cervical C2/C3 vertebral fusion, ... OMIM:142900
17Q24.2 Microdeletion Syndrome
Abnormality of the ankle, Abnormality of the wrist, Cubitus valgus, Short neck, Scoliosis ORPHA:529962
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Short stature OMIM:617755

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 Bptf

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 Bptf.

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

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MGI Allele Allele Type Produced
Bptfem1(IMPC)Bay Exon Deletion Mice

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