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Gene: Rsf1 MGI:2682305

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Gene Summary

Name:
remodeling and spacing factor 1
Synonyms:
p325,  4832420A03Rik,  C030033M12Rik,  XAP8,  Hbxap

Order Alleles

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
preweaning lethality, complete penetrance Rsf1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased bone mineral density Rsf1tm1b(EUCOMM)Wtsi HET Early adult 5.52×10-13
abnormal embryo size Rsf1tm1b(EUCOMM)Wtsi HOM E15.5 0.00
decreased prepulse inhibition Rsf1tm1b(EUCOMM)Wtsi HET Early adult 4.88×10-08

Download data as:  TSV  XLS

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

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 40% (2 of 5)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 40% (2 of 5)
Embryo N/A heterozygote 100% (5 of 5)
Eye N/A heterozygote 40% (2 of 5)
Footplate N/A heterozygote 40% (2 of 5)
Forebrain N/A heterozygote 40% (2 of 5)
Forelimb N/A heterozygote 40% (2 of 5)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 40% (2 of 5)
Head N/A heterozygote 40% (2 of 5)
Heart N/A heterozygote 40% (2 of 5)
Hindbrain N/A heterozygote 40% (2 of 5)
Hindlimb N/A heterozygote 40% (2 of 5)
Liver N/A heterozygote 40% (2 of 5)
Lung N/A heterozygote 40% (2 of 5)
Mandibular process N/A heterozygote 40% (2 of 5)
Maxillary process N/A heterozygote 40% (2 of 5)
Midbrain N/A heterozygote 40% (2 of 5)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 40% (2 of 5)
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 40% (2 of 5)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 40% (2 of 5)
Tail N/A heterozygote 40% (2 of 5)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Embryo LacZ

LacZ images wholemount

20 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

7 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Histopathology

Images

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Human diseases caused by Rsf1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rsf1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Increased bone mineral density, Recurrent fractures OMIM:611490
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... OMIM:259700
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... ORPHA:1782
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis OMIM:239000
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... ORPHA:77297
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Pycnodysostosis
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... ORPHA:763
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Werner Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness ORPHA:902
Camurati-Engelmann Disease
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi... OMIM:131300
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:618476
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis ORPHA:94089
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis OMIM:259720
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Poems Syndrome
Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone ORPHA:2905
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... ORPHA:90652
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis ORPHA:33364
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation OMIM:259775
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... ORPHA:355
Pseudohypoparathyroidism Type 1A
Hyperostosis frontalis interna, Ectopic ossification, Increased bone mineral density, Reduced bon... ORPHA:79443
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis ORPHA:35687
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density ORPHA:79444
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones OMIM:127000
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Desmosterolosis
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita OMIM:602398
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... ORPHA:79474
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Osteoporosis, Joint hy... ORPHA:904
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... OMIM:269500
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density ORPHA:667
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones OMIM:269150
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures ORPHA:2785

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.

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological process term dysplasia Rsf1tm1b(EUCOMM)Wtsi HET Early adult
Testis - MPATH pathological process term spermatogenesis defect Rsf1tm1b(EUCOMM)Wtsi HET Early adult

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 Rsf1.

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

Title Journal IMPC Allele PubMed ID
Chromatin-remodeling factor, RSF1, controls p53-mediated transcription in apoptosis upon DNA strand breaks. Cell death & disease (October 2018) Rsf1tm1b(EUCOMM) Rsf1tm1c(EUCOMM) PMC6197202

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.

MGI Allele Allele Type Produced
Rsf1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Rsf1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rsf1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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