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
decreased body length Bptfem1(IMPC)Bay HET Early adult 8.59×10-05
vertebral fusion Bptfem1(IMPC)Bay HET   Early adult 8.88×10-05
preweaning lethality, complete penetrance Bptfem1(IMPC)Bay HOM   Early adult 0.00
decreased prepulse inhibition Bptfem1(IMPC)Bay HET Early adult 2.69×10-06
abnormal bone structure Bptfem1(IMPC)Bay HET   Early adult 2.09×10-05

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 Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body 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, Short neck, Scoliosis, Cubitus valgus, Abnormality of the ankle 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, Joint stiffness, Tarsal synostosis, Abn... 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
Multiple Synostoses Syndrome 2
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... OMIM:610017
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... OMIM:277300
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis OMIM:613702
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... OMIM:618469
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Scoliosis, Hemivertebrae OMIM:122600
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology ORPHA:1436
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Knee flexion contracture, Vertebral fusion, Hip contracture, Multiple pterygia, Elbow flexion con... OMIM:178110
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge OMIM:309620
Brachydactyly, Type B1
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Jo... OMIM:113000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral segmentation defect, Vertebral fusion OMIM:618845
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Ab... ORPHA:2345
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis OMIM:214300
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Verheij Syndrome
Vertebral fusion, Hip dislocation, Short neck, Scoliosis, Hemivertebrae OMIM:615583
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... ORPHA:90650
Kniest Dysplasia
Arthropathy, Anterior vertebral fusion, Fused cervical vertebrae, Vertebral wedging, Hypoplasia o... ORPHA:485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scoliosis OMIM:606612
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Lumbar hyperlordosis, Reduce... ORPHA:93315
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Lumbar hyperlordosis ORPHA:313892
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Short neck, Delayed skeletal maturation, Scoliosis, Persiste... ORPHA:2332
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Patellar dislocation, Kyphosis, Hypoplastic vertebral bodies, Elbow dislocation... ORPHA:2916
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Spina bifida occulta, Abnormali... OMIM:613686
Asymmetric Short Stature Syndrome
Fused cervical vertebrae, Lumbar scoliosis OMIM:108450
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:312150
Gorlin Syndrome
Scoliosis, Vertebral fusion, Hemivertebrae, Vertebral wedging ORPHA:377
Alkaptonuria
Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Limited hip movement, Limited ... OMIM:203500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Scoliosis, Fused thoracic vertebrae ORPHA:1445
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:253290
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Ectopic ossification in... OMIM:135100
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Aarskog-Scott Syndrome
Camptodactyly of finger, Abnormality of the cervical spine, Abnormal vertebral segmentation and f... ORPHA:915
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:3109
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Partial fusion of tarsals, Genu valgum, Knee ... OMIM:305620
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis OMIM:118100
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplasia, Short neck, Cervical C2/C3 ve... OMIM:616549
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Cervical C2/C3 vertebral fusion, Generalized joint laxity, Facet joint arth... OMIM:618000
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Asymmetric radial dysplasia, Anterior vertebral fusion, Radioul... OMIM:171480
Spondylocarpotarsal Synostosis Syndrome
Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Capitate-hamate fusion, Block vertebrae, Vert... OMIM:272460
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Short neck, Kyphosis ORPHA:2522
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Osteolysis, Periostitis, Osteopenia, Joint swelling OMIM:612852
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Joint hypermobility, Short neck, Scoliosi... OMIM:130720
Larsen Syndrome
Vertebral fusion, Accessory carpal bones, Spondylolysis, Cervical kyphosis, Hip dislocation, Join... OMIM:150250
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... OMIM:265000
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Scoliosis, Joint hype... ORPHA:96169
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short neck, Scoliosis, Hemivertebrae OMIM:271520
Caudal Regression Syndrome
Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis, Joint stiffn... ORPHA:3027
Lamb-Shaffer Syndrome
Thoracic kyphosis, Fused cervical vertebrae, Scoliosis ORPHA:530983
Chromosome 8Q22.1 Duplication Syndrome
Limitation of joint mobility, Enlarged interphalangeal joints, Interphalangeal joint contracture ... OMIM:151200
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Koolen-De Vries Syndrome
Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Joint hypermobility, Spondylolisthesi... OMIM:610443
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Spinal canal... ORPHA:1724
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Increased bone mineral density, Synostosis of carpal bones, Carpal synos... ORPHA:90652
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sacral dimple, Vertebral fusion, Hyperextensibility of the finger joints, Joint hypermobility, Sh... OMIM:213980
Shashi-Pena Syndrome
Kyphosis, Accelerated skeletal maturation, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:617190
Basal Cell Nevus Syndrome 1
Vertebral fusion, Vertebral wedging, Kyphoscoliosis, Scoliosis, Hemivertebrae, Irregular ossifica... OMIM:109400
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Pr... OMIM:268310
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Fatigable weakness of swallowing muscles, Anteriorly placed... ORPHA:268882
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Limited elbow movement, Joint contracture of ... ORPHA:1826
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar scoliosis, Lumbar hyperlordosis OMIM:617796
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Patellar dislocation, Fused cervical vertebrae, Hip dislocation, Scoliosis, Aplasia/H... ORPHA:3320
Kbg Syndrome
Vertebral arch anomaly, Vertebral fusion, Thoracic kyphosis, Short neck, Delayed skeletal maturation OMIM:148050
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Fused cervical vertebrae, Butterfly vertebrae OMIM:619227
Microphthalmia, Syndromic 3
Vertebral fusion, Butterfly vertebrae, Vertebral hypoplasia, Hemivertebrae OMIM:206900
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion, Radial club hand ORPHA:959
Duane Retraction Syndrome
Camptodactyly, Spina bifida occulta, Abnormal vertebral segmentation and fusion, Short neck, Abno... ORPHA:233
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Wormian bones OMIM:617159
Myhre Syndrome
Vertebral fusion, Camptodactyly, Limitation of joint mobility, Enlarged vertebral pedicles, Short... OMIM:139210
Apert Syndrome
Delayed cranial suture closure, Sagittal craniosynostosis, Limited elbow movement, Humeroradial s... OMIM:101200
Atelosteogenesis, Type I
Vertebral hypoplasia, Fused cervical vertebrae, Elbow dislocation, Short neck, Knee dislocation, ... OMIM:108720
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Vertebral fusion, Camptodactyly OMIM:227330
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Vertebral fusion, Vertebral segmentation defect, Accelerated skeletal ma... ORPHA:373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Generalized joint laxity, Thoracic hemivertebrae, Fused cervical vertebra... ORPHA:508498
Thakker-Donnai Syndrome
Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion ORPHA:1780
Wolf-Hirschhorn Syndrome
Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Radioulnar synostosis, Abnormal stern... OMIM:194190
Aicardi Syndrome
Hemivertebrae, Butterfly vertebrae, Scoliosis, Block vertebrae OMIM:304050
Duane-Radial Ray Syndrome
Spina bifida occulta, Shoulder dislocation, Scoliosis, Fused cervical vertebrae OMIM:607323
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Block vertebrae ORPHA:50
Robinow Syndrome
Radioulnar dislocation, Kyphoscoliosis, Scoliosis, Hemivertebrae, Fused thoracic vertebrae ORPHA:97360
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Frontometaphyseal Dysplasia 2
Hip contracture, Fused cervical vertebrae, Camptodactyly, Elbow contracture, Dislocated radial he... OMIM:617137
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Fused cervical vertebrae, Carpal synostosis, Joint laxity, Joint h... OMIM:157800
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion OMIM:616368
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Patellar dislocation, Patellar aplasia, Fused cervical vertebrae, Hip dislocation, Ca... OMIM:274000
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Absence of the sacrum, Block vertebrae OMIM:306955
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Tracheobronchomalacia, Camptodactyly, Hip dislocation, Short neck, Cervical C5/C6 ... OMIM:613458
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Fused cervical vertebrae, Contracture of the distal interphalangeal joi... ORPHA:83617
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Abnormal vertebral morphology, Tracheomalacia, Cervical C2/C3 vertebral fusion, ... ORPHA:444077
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Fused cervical vertebrae, Abnormal hip joint morphology, S... ORPHA:51608
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion OMIM:211380
Craniofacial Microsomia
Genu valgum, Vertebral hypoplasia, Block vertebrae, Scoliosis, Hemivertebrae OMIM:164210
17Q24.2 Microdeletion Syndrome
Abnormality of the wrist, Short neck, Scoliosis, Cubitus valgus, Abnormality of the ankle 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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