Gene Summary

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

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Bptfem1(IMPC)Bay HOM   Early adult 0.00
decreased body length Bptfem1(IMPC)Bay HET Early adult 8.83×10-05
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
vertebral fusion Bptfem1(IMPC)Bay HET   Early adult 8.94×10-05
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 Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

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 wrist, Cubitus valgus, Scoliosis, Abnormality of the ankle, Short neck 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
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... 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
Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ... OMIM:610017
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Antecubital pterygium, Flexion contractur... OMIM:618469
Spondylocostal Dysostosis 5
Butterfly vertebrae, Scoliosis, Hemivertebrae, Low back pain, Short neck, Vertebral fusion 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
Scoliosis, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae ORPHA:1436
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Multip... OMIM:178110
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral fusion, Vertebral segmentation defect OMIM:618845
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,... OMIM:113000
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metopic ridge OMIM:309620
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Scoliosis, Short neck, Abno... 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
Short neck, Scoliosis, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion OMIM:214300
Kniest Dysplasia
Fused cervical vertebrae, Platyspondyly, Delayed epiphyseal ossification, Vertebral wedging, Arth... ORPHA:485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Elbow contracture, Vertebral fusion OMIM:606612
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Limitation of joint mobility, Synostosis of carpal bones, Elbow d... ORPHA:90650
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion ORPHA:313892
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Biconcave ve... ORPHA:93315
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral s... OMIM:613686
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Delayed skeletal maturation, S... ORPHA:2332
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Kyphosis, Hypoplastic vertebral ... ORPHA:2916
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Abnormal cervical curvature, Vertebral fusion, Flexion cont... OMIM:312150
Verheij Syndrome
Scoliosis, Hemivertebrae, Joint hypermobility, Short neck, Hip dislocation, Vertebral fusion OMIM:615583
Ring Chromosome 21 Syndrome
Scoliosis, Thoracic hemivertebrae, Fused thoracic vertebrae ORPHA:1445
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in ligament tissue, Ectopi... OMIM:135100
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Abnormal cervical curvature, Vertebral fusion, Flexion cont... OMIM:253290
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Joint hypermobility, Short neck, Abnormality of the cer... ORPHA:915
Frontometaphyseal Dysplasia 1
Limited elbow movement, Ankle flexion contracture, Genu valgum, Fused cervical vertebrae, Cervica... OMIM:305620
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:118100
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ... OMIM:203500
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Shoulder dislocatio... OMIM:618000
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplas... OMIM:616549
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Tarsal synostosis, Scoliosis, Hyperlordosis, Vertebral segmentation defe... OMIM:272460
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Joint swelling, Osteomyelitis OMIM:612852
Larsen Syndrome
Beaking of vertebral bodies, Spondylolysis, Multiple carpal ossification centers, Spina bifida oc... OMIM:150250
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Hyperlordosis, Fused cervical vertebrae, Kyphosis ORPHA:2522
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Kyphosis, Biconcave vertebral bodies, Short neck, Sclerosis of skull ba... OMIM:130720
Multiple Pterygium Syndrome, Escobar Variant
Dislocated radial head, Kyphosis, Hip dislocation, Axillary pterygium, Pterygium, Scoliosis, Neck... OMIM:265000
Koolen-De Vries Syndrome
Scoliosis, Vertebral segmentation defect, Kyphosis, Joint hypermobility, Hip dislocation, Vertebr... ORPHA:96169
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Hemivertebrae, Block vertebrae, Short neck, Supernumerary vertebrae, Vertebral fusion OMIM:271520
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Scoliosis, Joint stiffness, Hypoplastic vertebral bodies, Abnor... ORPHA:3027
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of joint mobility, J... OMIM:151200
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Scoliosis, Kyphosis, Prominent metopic ridge, Vertebral fusion,... OMIM:610443
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodactyly OMIM:617333
Mosaic Trisomy 20
Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spinal canal stenos... ORPHA:1724
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Increased bone mineral density, Scoliosis, Synostosis of carpal bones, Camptod... ORPHA:90652
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Scoliosis, Kyphosis, Osteoporosis, Accelerated skeletal maturation OMIM:617190
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Sacral dimple, Hyperextensibility of the finger joints, Scoliosis, H... OMIM:213980
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Vertebral wedging, Scoliosis, Hemivertebrae, Irregular ossification of hand bones... OMIM:109400
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Scoliosis, Hemivertebrae, Vertebral fusion ORPHA:377
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Sacral dimple, Dislocated radial head, Scoliosis, Hemivertebrae, Proximal/mid... OMIM:268310
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Fatigable weakn... ORPHA:268882
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Fused cervical vertebrae, Spina bifida occul... ORPHA:1826
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis OMIM:617796
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Scoliosis, Patellar dislocation, Gen... ORPHA:3320
Kbg Syndrome
Thoracic kyphosis, Delayed skeletal maturation, Short neck, Vertebral arch anomaly, Vertebral fusion OMIM:148050
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Fused cervical vertebrae, Spina bifida occulta OMIM:619227
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Vertebral fusion OMIM:206900
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Radial club hand, Vertebral fusion ORPHA:959
Myhre Syndrome
Enlarged vertebral pedicles, Limitation of joint mobility, Camptodactyly, Joint stiffness, Platys... OMIM:139210
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Flat acetabular roof OMIM:617159
Apert Syndrome
Limited elbow movement, Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Delayed cra... OMIM:101200
Duane Retraction Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Short neck, Abnormal ... ORPHA:233
Atelosteogenesis, Type I
Thoracic platyspondyly, Fused cervical vertebrae, Vertebral hypoplasia, Coronal cleft vertebrae, ... OMIM:108720
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Camptodactyly, Vertebral fusion OMIM:227330
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Fused cervical vertebrae, Thoracic kyphosis, Hypermobility of interphalange... ORPHA:508498
Simpson-Golabi-Behmel Syndrome
Scoliosis, Vertebral segmentation defect, Congenital hip dislocation, Camptodactyly of finger, Ac... ORPHA:373
Thakker-Donnai Syndrome
Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion ORPHA:1780
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal sternal ossification, Abnormal form of the vertebral bodies, Scoliosis, K... OMIM:194190
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Hemivertebrae, Block vertebrae OMIM:304050
Duane-Radial Ray Syndrome
Shoulder dislocation, Scoliosis, Fused cervical vertebrae, Spina bifida occulta OMIM:607323
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Block vertebrae ORPHA:50
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Frontometaphyseal Dysplasia 2
Fused cervical vertebrae, Dislocated radial head, Scoliosis, Camptodactyly, Congenital hip disloc... OMIM:617137
Robinow Syndrome
Kyphoscoliosis, Scoliosis, Hemivertebrae, Fused thoracic vertebrae ORPHA:97360
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia OMIM:616368
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Fusion of middle ear ossicles, Delayed sk... OMIM:157800
Thrombocytopenia-Absent Radius Syndrome
Carpal bone hypoplasia, Fused cervical vertebrae, Patellar aplasia, Patellar dislocation, Genu va... OMIM:274000
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Absence of the sacrum, Congenital hip dislocation OMIM:306955
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Tracheobronchomalacia, Camptodactyly, Cervical C5/C6 vertebrae fusion, Short neck,... OMIM:613458
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Fused cervical vertebrae, Cleft vertebral arch, Contracture of the dist... ORPHA:83617
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, Tracheomalacia, ... ORPHA:444077
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal... ORPHA:51608
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion OMIM:211380
Craniofacial Microsomia 1
Genu valgum, Scoliosis, Hemivertebrae, Vertebral hypoplasia, Block vertebrae OMIM:164210
Holt-Oram Syndrome
Limited elbow extension, Abnormal carpal morphology, Sacral dimple, Cervical C2/C3 vertebral fusi... OMIM:142900
17Q24.2 Microdeletion Syndrome
Abnormality of the wrist, Cubitus valgus, Scoliosis, Abnormality of the ankle, Short neck 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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