Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
secreted frizzled-related protein 4
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Sfrp4 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 Sfrp4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pyle Disease
Genu valgum, Limited elbow extension, Thin bony cortex, Metaphyseal widening, Metaphyseal dysplas... OMIM:265900

The table below shows human diseases predicted to be associated to Sfrp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Acroosteolysis
Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes OMIM:102400
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Thin bony cortex, Pathologic fracture OMIM:174810
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic... ORPHA:970
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis ORPHA:2776
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R... ORPHA:53697
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Juvenile Hyaline Fibromatosis
Joint stiffness, Progressive flexion contractures, Osteolysis, Abnormal diaphysis morphology ORPHA:2028
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... ORPHA:3416
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... ORPHA:564003
Osteosarcoma
Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog... ORPHA:668
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Osteoporosis, Flexion contracture, Osteolysis OMIM:228600
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... ORPHA:73
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... ORPHA:3152
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Osteoporosis, Osteolysis ORPHA:100024
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Rosaï-Dorfman Disease
Anemia, Osteolysis ORPHA:158014
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodactyly of finger, Met... ORPHA:2774
Ollier Disease
Micromelia, Joint stiffness, Anemia, Abnormal metaphysis morphology, Osteolysis ORPHA:296
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Abnormal hip bone morphology, Gen... ORPHA:93160
Osteoporosis
Osteoporosis OMIM:166710
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... ORPHA:2204
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca... ORPHA:50809
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... OMIM:602080
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Dermatoosteolysis, Kirghizian Type
Abnormal diaphysis morphology, Brachydactyly, Osteoarthritis, Tarsal synostosis, Abnormal metaphy... ORPHA:1657
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo... ORPHA:1952
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Osteolysis ORPHA:494
Osteogenesis Imperfecta, Type Xxii
Slender long bone, Bowing of the long bones, Pseudoarthrosis, Thin bony cortex, Multiple prenatal... OMIM:619795
Pyle Disease
Genu valgum, Limited elbow extension, Thin bony cortex, Metaphyseal widening, Metaphyseal dysplas... OMIM:265900
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal epiphysis morphology, Craniofacial osteosclerosis, Osteomyelitis, Hyperostosis, Abnormal... ORPHA:324964
Hypophosphatemic Bone Disease
Osteomalacia, Rickets, Bowing of the legs OMIM:146350
Invasive Mole
Menometrorrhagia ORPHA:99925
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Cranio-Osteoarthropathy
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... ORPHA:1525
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Tenosynovial Giant Cell Tumor
Limitation of joint mobility, Abnormal shoulder morphology, Localized osteoporosis, Abnormal hip ... ORPHA:66627
Ramon Syndrome
Osteolysis ORPHA:3019
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Cortical thickening of long b... ORPHA:1310
Frank-Ter Haar Syndrome
Camptodactyly of finger, Joint stiffness, Abnormal metacarpal morphology, Brachydactyly, Clinodac... ORPHA:137834
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Micromelia, Camptodactyly... ORPHA:2635
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Pathologic fracture, Increased susceptibility to fractures, Abnormal long bone morphology, Calvar... ORPHA:52430
Infantile Myofibromatosis
Limitation of joint mobility, Abnormal metaphysis morphology, Osteolysis, Bone cyst ORPHA:2591
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Tibi... OMIM:600081
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300554
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal bones, Incre... ORPHA:371428
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi... OMIM:607634
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Aggressive Systemic Mastocytosis
Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased pro... ORPHA:98850
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Classic Hodgkin Lymphoma
Splenomegaly, Osteolysis ORPHA:391
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ... OMIM:144750
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Abnormal cortical ... ORPHA:1486
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Abnormal cortical bone ... ORPHA:2097
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Abnormal tibia morphology, Cortical irregularity, Abnormal pelvis bone mor... ORPHA:249
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... OMIM:166260
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Osteomyelitis, Abscess, Splenomegaly, Neutrophilia, Osteolysis, Fused ce... OMIM:612852
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Hypo... OMIM:241530
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Coxa vara, Metaphys... ORPHA:174
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony co... OMIM:619638
Pachydermoperiostosis
Small hand, Clubbing of toes, Limitation of joint mobility, Abnormal epiphysis morphology, Osteol... ORPHA:2796
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Greenberg Dysplasia
Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Decreased skull ossification, Anterior... ORPHA:1426
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Felty Syndrome
Limitation of joint mobility, Abnormal lymphocyte morphology, Splenomegaly, Synovitis, Neutropeni... ORPHA:47612
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300009
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Narrow foramen obturatorium, Osteolysis, Arthritis ORPHA:220393
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul... OMIM:277440
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Tooth abscess, Iron deficiency anemia, Bowing of the legs ORPHA:89937
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Generalized oste... OMIM:617952
Gaucher Disease Type 1
Splenic infarction, Osteopenia, Erlenmeyer flask deformity of the femurs, Pathologic fracture, He... ORPHA:77259
Nestor-Guillermo Progeria Syndrome
Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, Rib osteolys... OMIM:614008
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Kaposiform Lymphangiomatosis
Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Abnormal femur morphology, Splenomeg... ORPHA:464329
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Limitation of joint mobility, Acroosteolysis of distal phalanges ... ORPHA:90153
Hypercholanemia, Familial 1
Rickets OMIM:607748
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, ... ORPHA:210110
Proteus Syndrome
Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex, Calvarial hyperostosis OMIM:176920
Sapho Syndrome
Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovitis, Abnorma... ORPHA:793
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu... ORPHA:85184
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Short distal phalanx of finger, Acroosteolysis of distal phalanges... ORPHA:90154
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Abnormal metaphysis m... ORPHA:2484
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Mucolipidosis Type Iii Alpha/Beta
Generalized osteoporosis, Joint stiffness, Flexion contracture, Osteolysis ORPHA:423461
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density, Bowing... ORPHA:157215
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Abnormal fibula morphology, Short... ORPHA:198
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Vertebral hyp... ORPHA:89936
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Oste... ORPHA:289157
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Increased bone mineral densi... ORPHA:289176
Papillon-Lefèvre Syndrome
Arachnodactyly, Recurrent cutaneous abscess formation, Osteolysis, Liver abscess ORPHA:678
Erdheim-Chester Disease
Abnormal epiphysis morphology, Osteomyelitis, Anemia, Increased bone mineral density, Abnormal me... ORPHA:35687
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Osteomalacia, Avascular necrosis of the capital femoral epiphysis, Joint sti... ORPHA:1901
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... OMIM:259600
Chromomycosis
Ankylosis, Osteolysis ORPHA:182
H Syndrome
Osteolysis, Microcytic anemia, Hepatosplenomegaly, Hallux valgus, Camptodactyly, Histiocytosis, R... ORPHA:168569
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Thrombocytopenia, Myelofibrosis... OMIM:231095
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodactyly, Flexio... ORPHA:88630
Mixed Connective Tissue Disease
Leukopenia, Joint stiffness, Splenomegaly, Arthritis, Hemolytic anemia, Osteolysis ORPHA:809
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep... ORPHA:3474
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Thrombocytopenia, Osteolysis, Ost... ORPHA:464321
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Recurrent fractures, Osteomalacia OMIM:613388
Infantile Systemic Hyalinosis
Osteopenia, Micromelia, Osteomalacia, Camptodactyly of finger, Joint stiffness, Increased suscept... ORPHA:2176
Porphyria, Congenital Erythropoietic
Osteopenia, Joint contracture of the hand, Pathologic fracture, Splenomegaly, Thrombocytopenia, R... OMIM:263700
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Femoral bowing, Recurrent fractures OMIM:126550
Alpha-Mannosidosis, Infantile Form
Osteopenia, Cranial hyperostosis, Joint stiffness, Genu valgum, Hepatosplenomegaly, Pancytopenia,... ORPHA:309282
Gaucher Disease Type 3
Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Thrombocytopenia, Anemia, Incr... ORPHA:77261
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Hajdu-Cheney Syndrome
Short distal phalanx of finger, Osteopenia, Coarse metaphyseal trabecularization, Short toe, Recu... ORPHA:955
Familial Dysautonomia
Recurrent fractures, Osteolysis ORPHA:1764
Dent Disease
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae... ORPHA:1652
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Splenomegaly OMIM:211600
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Stüve-Wiedemann Syndrome
Osteopenia, Limitation of joint mobility, Micromelia, Camptodactyly of finger, Elbow flexion cont... ORPHA:3206
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Narrow iliac wing, Anemia, Flexion contracture, Bone cyst, Osteolysis ORPHA:3042
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Incontinentia Pigmenti
Deviation of finger, Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent... ORPHA:464
Osteopetrosis, Autosomal Dominant 2
Generalized osteosclerosis, Osteopetrosis OMIM:166600
Osteogenesis Imperfecta, Type X
Osteopenia, Rhizomelia, Micromelia, Genu valgum, Fibular bowing, Tibial bowing, Generalized joint... OMIM:613848
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phal... OMIM:608612
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Osteopenia, Elbow flexion contracture, Progressive clavicular acr... OMIM:248370
Coccidioidomycosis
Granuloma, Osteomyelitis, Abnormality of the spleen, Abnormal long bone morphology, Abscess, Eosi... ORPHA:228123
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Gaucher Disease
Splenic infarction, Osteopenia, Osteolysis, Pathologic fracture, Osteomyelitis, Joint stiffness, ... ORPHA:355
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Hepatoerythropoietic Porphyria
Osteopenia, Erythroid hyperplasia, Splenomegaly, Osteoporosis, Hemolytic anemia, Osteolysis ORPHA:95159
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Abnormal cortical bone morphology, Increased susceptibility to fr... ORPHA:2769
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Osteolysis ORPHA:2396
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Limb undergrowth, Thin bony cortex, Coxa v... OMIM:230600
Cryptococcosis
Osteomyelitis, Lymphoid leukemia, Osteolysis ORPHA:1546
Congenital Erythropoietic Porphyria
Osteopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Throm... ORPHA:79277
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Chikungunya
Periostitis, Joint stiffness, Synovitis, Arthritis, Enthesitis, Stiff interphalangeal joints, Ost... ORPHA:324625
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis OMIM:611490
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Splenomegaly OMIM:607765
Mosaic Variegated Aneuploidy Syndrome
Clinodactyly of the 5th finger, Acute lymphoblastic leukemia, Osteolysis ORPHA:1052
Fanconi-Bickel Syndrome
Bowing of the long bones, Osteopenia, Rickets ORPHA:2088
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... ORPHA:3130
Lenz-Majewski Hyperostotic Dwarfism
Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ... ORPHA:2658
Faciocardiomelic Syndrome
Osteopenia, Slender long bone, Hypoplastic pelvis, Polydactyly, Thin bony cortex OMIM:612731
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Oculodentodigital Dysplasia
Toe syndactyly, Finger syndactyly, Clinodactyly, Preaxial hand polydactyly, Aplasia/Hypoplasia of... ORPHA:2710
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Mccune-Albright Syndrome
Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Pancytopenia, Abnormal femur mo... ORPHA:562
Cystinosis
Rickets ORPHA:213
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Extramedullary hematopoiesis ORPHA:79303
Zygomycosis
Splenic abscess, Brain abscess, Osteolysis, Neutropenia ORPHA:73263
Osteopetrosis, Autosomal Recessive 2
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis, Decreased osteoclast count OMIM:259710
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Aplastic clavicle, Broad distal phalanx of finger, Bifid femur, Osteopenia, Rickets, Micromelia, ... ORPHA:2636
Frank-Ter Haar Syndrome
Osteopenia, Flared metaphysis, Cortical irregularity, Bowing of the long bones, Talipes equinovar... OMIM:249420
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea ORPHA:247768
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Long hallux, Talipes equinovarus, Long fingers, Thin bony cortex, Osteoporosis, Recurrent fractur... OMIM:309583
Spondyloocular Syndrome
Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long toe, Long fingers, Thin bony co... OMIM:605822
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Joint stiffness, Brachydactyly, Thin bony cortex, Broad metatarsal, ... OMIM:277600
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Iron deficiency anemia, Rickets, Osteomalacia ORPHA:309031
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
17Q11 Microdeletion Syndrome
Osteopenia, Thickened cortex of long bones, Diaphyseal dysplasia, Large hands, Leukemia, Osteopor... ORPHA:97685
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... ORPHA:221120
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Osteogenesis Imperfecta
Abnormal tibia morphology, Genu valgum, Decreased skull ossification, Bowing of the long bones, D... ORPHA:666
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Celiac Disease, Susceptibility To, 1
Rickets, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis, Osteoporosis OMIM:212750
Neu-Laxova Syndrome
Osteopenia, Rickets, Micromelia, Osteomalacia, Large hands, Osteoporosis, Flexion contracture, Ar... ORPHA:2671
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Craniotubular Dysplasia, Ikegawa Type
Broad femoral neck, Sclerosis of skull base, Diaphyseal dysplasia, Broad ischia, Metaphyseal dysp... OMIM:619727
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Patellar hypoplasia, Pathologic... ORPHA:221016
Kenny-Caffey Syndrome, Type 2
Anemia, Thickened cortex of long bones, Increased bone mineral density, Abnormality of the medull... OMIM:127000
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi... ORPHA:2909
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis OMIM:259730
Multiple Endocrine Neoplasia Type 1
Reduced bone mineral density, Increased susceptibility to fractures, Osteolysis ORPHA:652
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Patellar hypoplasia, Metaphysea... ORPHA:221008
Hypermobile Ehlers-Danlos Syndrome
Limitation of joint mobility, Osteolysis, Joint hypermobility, Arachnodactyly, Osteoarthritis, Hi... ORPHA:285
Weill-Marchesani Syndrome 2
Broad phalanges of the hand, Short finger, Elbow flexion contracture, Joint stiffness, Brachydact... OMIM:608328
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Distal Renal Tubular Acidosis
Rickets, Osteomalacia, Reduced bone mineral density, Increased susceptibility to fractures, Hemol... ORPHA:18
Fanconi-Bickel Syndrome
Rickets, Osteomalacia OMIM:227810
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Finger swelling, Rickets, Camptodactyly of finger, Osteomalacia, P... OMIM:309000
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Pancytopenia, Joint hypermobility, Thin bony cortex, Anemia, Reduced bone mi... OMIM:613658
Atypical Werner Syndrome
Limitation of joint mobility, Finger clinodactyly, Sclerosis of hand bone, Progressive clavicular... ORPHA:79474
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia ORPHA:3337
Aspartylglucosaminuria
Joint stiffness, Abnormal cortical bone morphology, Splenomegaly, Abnormal morphology of ulna, Ar... ORPHA:93
Hutchinson-Gilford Progeria Syndrome
Limitation of joint mobility, Limited wrist movement, Limited hip movement, Joint stiffness, Limi... ORPHA:740
Oculocerebrorenal Syndrome Of Lowe
Abnormal epiphysis morphology, Osteomalacia, Joint stiffness, Genu valgum, Recurrent fractures, J... ORPHA:534
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Joint hypermobility, Talipes equinovarus, Osteoarthritis, Osteolysis ORPHA:286
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Osteomalacia, Osteomyelitis, Decreased proportion of naive T c... OMIM:619381
Wilson Disease
Osteomalacia, Splenomegaly, Joint hypermobility, Osteoarthritis, Thrombocytopenia, Anemia, Osteop... OMIM:277900
Cystinosis, Nephropathic
Rickets, Genu valgum, Hypophosphatemic rickets, Splenomegaly, Metaphyseal widening OMIM:219800
Hypomagnesemia 3, Renal
Genu valgum, Rickets, Short metacarpal, Bowing of the legs OMIM:248250
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Vaginal atresia, Micropenis OMIM:209900
Generalized Arterial Calcification Of Infancy
Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ... ORPHA:51608
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... ORPHA:99413
Turner Syndrome
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... ORPHA:881
Mosaic Monosomy X
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... ORPHA:99228
Monosomy X
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... ORPHA:99226

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 Sfrp4

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 Sfrp4.

No publications found that use IMPC mice or data for Sfrp4.

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
Sfrp4tm3a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sfrp4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Sfrp4tm3e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Sfrp4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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