Gene Summary

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

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
increased bone mineral density Rsf1tm1b(EUCOMM)Wtsi HET Early adult 5.52×10-13
preweaning lethality, complete penetrance Rsf1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal embryo size Rsf1tm1b(EUCOMM)Wtsi HOM E15.5 0.00
decreased prepulse inhibition Rsf1tm1b(EUCOMM)Wtsi HET Early adult 1.91×10-07

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 1.72% (1 of 58)
brain 1.09% (5 of 460)
central nervous system ganglion 1.56% (1 of 64)
ear 0.22% (1 of 462)
embryo 0.22% (1 of 460)
eye 0.22% (1 of 448)
footplate 0.22% (1 of 464)
forebrain 0.22% (1 of 450)
forelimb 0.22% (1 of 453)
gut 1.92% (1 of 52)
handplate 0.22% (1 of 449)
head 1.08% (5 of 461)
heart 0.23% (1 of 443)
hindbrain 1.1% (5 of 454)
hindlimb 0.22% (1 of 464)
liver 0.22% (1 of 448)
lung 0.22% (1 of 448)
mandibular process 0.22% (1 of 463)
maxillary process 0.22% (1 of 450)
midbrain 0.22% (1 of 453)
nose 1.43% (1 of 70)
oral cavity 0.22% (1 of 455)
placenta 14.29% (5 of 35)
skeleton 1.54% (1 of 65)
skin 0.21% (1 of 469)
spinal cord 0.0%
tail 0.22% (1 of 445)
tail somite group 0.22% (1 of 457)
trachea 1.89% (1 of 53)
urinary system 1.72% (1 of 58)

Associated Images

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

Immunophenotyping

Panel B FCS file(s)

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

20 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

Immunophenotyping

Panel A FCS file(s)

3 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Histopathology

Images

2 Images

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
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
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
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
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
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Isolated Osteopoikilosis
Joint stiffness, Abnormal pelvis bone ossification, Increased bone mineral density, Sclerotic foc... ORPHA:166119
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Thickened cortex of bones ORPHA:564003
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Melorheostosis
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Hyperosto... ORPHA:2485
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density 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
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis,... OMIM:166600
Intermediate Osteopetrosis
Recurrent fractures, Increased susceptibility to fractures, Cortical sclerosis, Osteosclerosis of... ORPHA:210110
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis OMIM:122860
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Advanced tarsal ossification OMIM:215045
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Abnormal bone struct... ORPHA:1306
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Abnormal vertebral segmentation and fusion, Limitation of joint mobil... ORPHA:90650
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Osteomyelitis, Osteopetrosis, Pathologic fractu... OMIM:259700
Spondyloepiphyseal Dysplasia Tarda
Premature osteoarthritis, Hip osteoarthritis, Increased bone mineral density, Limited wrist movem... ORPHA:93284
Diastrophic Dysplasia
Camptodactyly of finger, Joint hyperflexibility, Joint stiffness, Increased bone mineral density ORPHA:628
Albers-Schönberg Osteopetrosis
Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Osteomyelitis, Mandibular osteom... ORPHA:53
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mineral density, ... ORPHA:1782
Metaphyseal Dysplasia, Braun-Tinschert Type
Sclerosis of middle finger phalanx, Osteopenia, Increased bone mineral density, Thin bony cortex,... ORPHA:85188
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Delayed patellar ossification, Increased bone mineral density ORPHA:163649
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Diaphyseal sclerosis, Recurrent fractures, Osteomyelitis, Mandibular osteom... OMIM:259710
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone density with cystic changes, Increased bone mineral density ORPHA:94089
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of calv... OMIM:601376
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Osteopenia, Increased bone mineral density ORPHA:85184
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Recurrent fractures, Increased bone mineral density, Osteoporosis, Ankylosis OMIM:239000
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fractures of the long bones, Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Majeed Syndrome
Flexion contracture, Increased bone mineral density, Increased susceptibility to fractures, Osteo... ORPHA:77297
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Dysosteosclerosis
Clavicular sclerosis, Osteopenia, Sclerosis of hand bone, Increased susceptibility to fractures, ... OMIM:224300
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Increased bone mineral density, Abnormal trabecular bone morp... ORPHA:289176
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Pycnodysostosis
Increased bone mineral density, Coronal craniosynostosis, Joint laxity, Osteolytic defects of the... ORPHA:763
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Recurrent fractures OMIM:611490
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Sclerosis of skull base, Increa... OMIM:131300
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Increased bone mineral density, Decreased osteoclast count OMIM:259720
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Desmosterolosis
Osteopetrosis, Increased bone mineral density ORPHA:35107
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base ORPHA:2905
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Increased bone mineral density, Tarsal synostosis,... ORPHA:90652
X-Linked Hypophosphatemia
Craniosynostosis, Arthritis, Limitation of joint mobility, Vertebral hyperostosis, Enthesitis, Ge... ORPHA:89936
Trichothiodystrophy
Craniosynostosis, Osteopenia, Multiple joint contractures, Increased bone mineral density ORPHA:33364
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis OMIM:259730
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Increased bone mineral density, Facial hyperostosis, Osteopetrosis, Elbow a... ORPHA:2658
Schwartz-Jampel Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Shoulder flexion contracture, Flex... ORPHA:800
Raine Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita OMIM:259775
Werner Syndrome
Osteoporosis, Increased bone mineral density, Joint stiffness ORPHA:902
Gaucher Disease
Osteopenia, Increased bone mineral density, Joint stiffness, Recurrent fractures, Abnormal bone s... ORPHA:355
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Ectopic ossification, Increased bone mineral density, Hyperostosis ... ORPHA:79443
Gaucher Disease Type 3
Osteolysis, Increased susceptibility to fractures, Increased bone mineral density ORPHA:77261
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Erdheim-Chester Disease
Osteomyelitis, Osteolysis, Increased bone mineral density ORPHA:35687
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density ORPHA:79444
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Atypical Werner Syndrome
Increased bone mineral density, Sclerosis of hand bone, Osteoporosis, Osteolytic defects of the p... ORPHA:79474
Cleidocranial Dysplasia
Delayed pubic bone ossification, Increased susceptibility to fractures, Increased bone mineral de... OMIM:119600
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Sclerosteosis 1
Sclerotic scapulae, Cortically dense long tubular bones, Facial palsy secondary to cranial hypero... OMIM:269500
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Williams Syndrome
Osteopenia, Increased bone mineral density, Joint stiffness, Joint laxity, Osteoporosis, Radiouln... ORPHA:904
Autosomal Recessive Malignant Osteopetrosis
Reduced bone mineral density, Osteopetrosis, Craniosynostosis, Recurrent fractures ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome
Thickened cortex of long bones, Increased density of long bones, Sclerosis of skull base OMIM:269150

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 spermatogenesis defect Rsf1tm1b(EUCOMM)Wtsi HET Early adult
Testis - MPATH pathological process term dysplasia 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

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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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