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, complete penetrance Bptfem1(IMPC)Bay HOM   Early adult 0.00
decreased prepulse inhibition Bptfem1(IMPC)Bay HET Early adult 2.29×10-06
decreased body length Bptfem1(IMPC)Bay HET Early adult 7.97×10-05
vertebral fusion Bptfem1(IMPC)Bay HET   Early adult 8.88×10-05
abnormal bone structure Bptfem1(IMPC)Bay HET   Early adult 1.01×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

7 Images

X-ray

XRay Images Skull Lateral Orientation

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

X-ray

XRay Images Forepaw

4 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
Short neck, Abnormality of the ankles, Scoliosis, Cubitus valgus, Abnormality of the wrist ORPHA:529962
Non-Specific Syndromic Intellectual Disability
Scoliosis, Kyphosis, Joint hypermobility ORPHA:528084
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, Abnormal form of the vertebral bodies, Joint stiffness, Tarsal synostosis, Posteri... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormality of the odontoid process, Ky... OMIM:277300
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion, Humeroradial s... OMIM:610017
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Increased bone mineral density, Sclerotic verteb... ORPHA:2777
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Ver... OMIM:613686
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Short neck, Elbow flexion contracture, Knee flexion contract... OMIM:178110
Spondylocostal Dysostosis 5
Short neck, Scoliosis, Low back pain, Vertebral fusion, Butterfly vertebrae, Hemivertebrae OMIM:122600
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Vertebral fusion OMIM:221950
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Scoliosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae OMIM:616566
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Fused cervical vertebrae ORPHA:1436
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Prominent metopic ridge, Fused cervical vertebrae, Scoliosis OMIM:309620
Brachydactyly, Type B1
Hypoplastic sacrum, Thoracolumbar scoliosis, Vertebral fusion, Delayed cranial suture closure, Ca... OMIM:113000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Vertebral segmentation defect, Sacral dimple OMIM:618845
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Scoliosis, Short neck, Fused cervical vertebrae OMIM:214300
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
Verheij Syndrome
Short neck, Scoliosis, Vertebral fusion, Hemivertebrae, Hip dislocation OMIM:615583
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion OMIM:606612
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Widening of cervical spinal ca... OMIM:606842
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged joints, Short neck, Joint stiffness, Vertebral wedging, Cervica... ORPHA:485
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Increased bone mineral density, Elbow dislocation, Abnormal vertebral... ORPHA:90650
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Vertebral hypoplasia, Abnormal bone ossification, Scoliosis, Vertebral fusion, Limb p... ORPHA:93315
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Elbow dislocation,... ORPHA:2916
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Vertebral fusion, Butterfly vertebrae ORPHA:313892
Kbg Syndrome
Thoracic kyphosis, Short neck, Persistent open anterior fontanelle, Scoliosis, Vertebral fusion, ... ORPHA:2332
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Scoliosis, Ectopic ossi... OMIM:135100
Gorlin Syndrome
Vertebral wedging, Scoliosis, Vertebral fusion, Hemivertebrae ORPHA:377
Alkaptonuria
Limitation of knee mobility, Kyphosis, Intervertebral disc degeneration, Low back pain, Vertebral... OMIM:203500
Asymmetric Short Stature Syndrome
Fused cervical vertebrae, Lumbar scoliosis OMIM:108450
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Joint dislocation, Increased susceptibility to fractures, Abnormal cervical ... OMIM:312150
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae ORPHA:1445
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion OMIM:607155
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Joint dislocation, Increased susceptibility to fractures, Abnormal cervical ... OMIM:253290
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Aarskog-Scott Syndrome
Short neck, Abnormality of the cervical spine, Genu recurvatum, Camptodactyly of finger, Abnormal... ORPHA:915
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Partial fusion of tarsals, Elbow flexion contracture, C... OMIM:305620
Kbg Syndrome
Thoracic kyphosis, Vertebral fusion, Delayed skeletal maturation, Vertebral arch anomaly OMIM:148050
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Hypoplastic vertebral bodies, Spinal canal stenosis, Vertebral fusion, Tarsal synostosis, Kyphosc... OMIM:263540
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion, Scoliosis, Short neck OMIM:118100
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Lateral Meningocele Syndrome
Wormian bones, Short neck, Kyphosis, Sclerosis of skull base, Joint hypermobility, Scoliosis, Ver... OMIM:130720
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... OMIM:616549
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Elbow dislocation, Radioulnar synostosis, Anterior vertebral fu... OMIM:171480
Spondylocarpotarsal Synostosis Syndrome
Vertebral segmentation defect, Carpal synostosis, Block vertebrae, Short neck, Hypoplasia of the ... OMIM:272460
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short neck, Fused cervical vertebrae ORPHA:2522
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Joint laxity, Scoliosis, Synostosis of carpals/tarsals, Fused cervical vertebr... OMIM:157800
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling OMIM:612852
Koolen-De Vries Syndrome
Kyphosis, Scoliosis, Hip dislocation, Vertebral fusion, Vertebral segmentation defect, Joint hype... ORPHA:96169
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Short neck, Supernumerary vertebrae, Scoliosis, Vertebral fusion, Hemivertebrae OMIM:271520
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Scoliosis, Abnormal vertebral segmentation and fus... ORPHA:3027
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Anterior clefting of vertebral bodies, Popliteal pterygium, Kyphosis, Disl... OMIM:265000
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Enlarged interphalangeal joints, Genu recurvatu... OMIM:151200
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Increased bone mineral density, Elbow dislocation,... ORPHA:90652
Mosaic Trisomy 20
Kyphosis, Scoliosis, Spinal canal stenosis, Vertebral fusion, Fused cervical vertebrae, Limited p... ORPHA:1724
Koolen-De Vries Syndrome
Kyphosis, Sacral dimple, Joint hypermobility, Spondylolisthesis, Scoliosis, Vertebral fusion, Pro... OMIM:610443
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Vertebral wedging, Scoliosis, Vertebral fusion, Kyphoscolio... OMIM:109400
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Fatigable weakness of swallowing muscles, Scoliosis, Fused cervi... ORPHA:268882
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hypoplastic sacrum, Thoracolumbar scoliosis, Scoliosis, Vertebral fusion, Delayed cra... OMIM:268310
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Frontometaphyseal Dysplasia
Limitation of knee mobility, Limitation of movement at ankles, Craniosynostosis, Dislocated radia... ORPHA:1826
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Scoliosis, Patellar dislocation, Fused cervical vertebrae, Aplasia/Hypoplasia of the ... ORPHA:3320
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Vertebral fusion, Hemivertebrae, Butterfly vertebrae OMIM:206900
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Fused cervical vertebrae, Butterfly vertebrae OMIM:619227
Acro-Renal-Ocular Syndrome
Radial club hand, Vertebral segmentation defect, Vertebral fusion ORPHA:959
Duane Retraction Syndrome
Short neck, Abnormal form of the vertebral bodies, Abnormal vertebral segmentation and fusion, Sp... ORPHA:233
Myhre Syndrome
Short neck, Joint stiffness, Platyspondyly, Vertebral fusion, Camptodactyly, Enlarged vertebral p... OMIM:139210
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Short neck, Thoracic platyspondyly, Elbow dislocat... OMIM:108720
Apert Syndrome
Synostosis of carpal bones, Lambdoidal craniosynostosis, Craniosynostosis, Coronal craniosynostos... OMIM:101200
Simpson-Golabi-Behmel Syndrome
Accelerated skeletal maturation, Short neck, Congenital hip dislocation, Scoliosis, Vertebral fus... ORPHA:373
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Camptodactyly, Vertebral fusion OMIM:227330
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Thoracic scoliosis, Thoracic kyphosis, Short neck, Cervical hemivertebrae, ... ORPHA:508498
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Aicardi Syndrome
Scoliosis, Block vertebrae, Hemivertebrae, Butterfly vertebrae OMIM:304050
Wolf-Hirschhorn Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Sacral dimple, Radioulnar synostosis, Scoliosis,... OMIM:194190
Aicardi Syndrome
Scoliosis, Block vertebrae, Butterfly vertebrae ORPHA:50
Robinow Syndrome
Radioulnar dislocation, Fused thoracic vertebrae, Scoliosis, Kyphoscoliosis, Hemivertebrae ORPHA:97360
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Patellar dislocation, Hip dislocation, Patellar aplasia, Fused cer... OMIM:274000
Duane-Radial Ray Syndrome
Spina bifida occulta, Scoliosis, Fused cervical vertebrae OMIM:607323
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Frontometaphyseal Dysplasia 2
Dislocated radial head, Congenital hip dislocation, Scoliosis, Hip contracture, Fused cervical ve... OMIM:617137
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Block vertebrae, Congenital hip dislocation OMIM:306955
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cleft vertebral arch, Fused cervical vertebrae, Coronal craniosynostosis, Contracture of the dist... ORPHA:83617
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Wormian bones, Tracheomalacia, Abnormal vertebral morphology, Hi... ORPHA:444077
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormal calcification of the carpal bones, Hypophosphatemic... ORPHA:51608
Craniofacial Microsomia
Vertebral hypoplasia, Block vertebrae, Scoliosis, Genu valgum, Hemivertebrae OMIM:164210
17Q24.2 Microdeletion Syndrome
Short neck, Abnormality of the ankles, Scoliosis, Cubitus valgus, Abnormality of the wrist ORPHA:529962
Non-Specific Syndromic Intellectual Disability
Scoliosis, Kyphosis, Joint hypermobility ORPHA:528084
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.

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
Bptfem1(IMPC)Bay Exon Deletion Mice

The IMPC Newsletter

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

Subscribe to newsletter