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Gene: Frzb MGI:892032

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
frizzled-related protein
Synonyms:
Sfrp3,  fritz,  Frp,  frzb-1

Order Alleles

IMPC Data Collections

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

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.

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 Frzb 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 Frzb by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Metaphyseal dysplasia, Dense metaphyseal bands OMIM:615198
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... ORPHA:1879
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... ORPHA:564003
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... ORPHA:3416
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... ORPHA:3152
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R... ORPHA:53697
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De... OMIM:611497
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... ORPHA:2204
Mueller-Weiss Syndrome
Tibiofibular diastasis, Sclerosis of foot bone, Tibial torsion, Abnormality of the os naviculare ... ORPHA:566943
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Thrombocytopenia, Myelofibrosis... OMIM:231095
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
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
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi... OMIM:607634
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... ORPHA:79106
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, ... ORPHA:210110
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Hip Dysplasia, Beukes Type
Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Limitation of joint mobility, Synostosis of carpal bones, Short t... ORPHA:90650
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bones, Metaphys... ORPHA:2501
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... OMIM:611490
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Lethal Recessive Chondrodysplasia
Micromelia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, Short long bone ORPHA:1423
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic... ORPHA:970
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o... OMIM:166600
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Osteopetrosis, Anemia, Increased bone mineral density OMIM:620366
Melorheostosis
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... ORPHA:2485
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Delay... OMIM:617974
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ... OMIM:144750
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Osteomye... ORPHA:53
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul... ORPHA:174
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... OMIM:166260
Pyle Disease
Genu valgum, Limited elbow extension, Thin bony cortex, Metaphyseal dysplasia, Metaphyseal wideni... OMIM:265900
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Osteogenesis Imperfecta, Type Xxii
Slender long bone, Bowing of the long bones, Pseudoarthrosis, Thin bony cortex, Multiple prenatal... OMIM:619795
Cranio-Osteoarthropathy
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... ORPHA:1525
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Osteomyelitis, Hepa... OMIM:259710
Osteopetrosis, Autosomal Recessive 1
Flared metaphysis, Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture... OMIM:259700
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density ORPHA:37748
Diastrophic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Camptodactyly of finger, Sh... ORPHA:628
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... OMIM:616943
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu... ORPHA:85184
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Micromelia, Camptodactyly... ORPHA:2635
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Premature osteoarthritis, Dys... ORPHA:93284
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Chondrodysplasia, Blomstrand Type
Micromelia, Flared metaphysis, Generalized osteosclerosis, Advanced ossification of carpal bones,... OMIM:215045
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Wide distal femoral metaphysis, Femoral bowing, Wide pubic symphy... OMIM:614856
Majeed Syndrome
Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomegaly, Synovitis, Cong... ORPHA:77297
Osteopetrosis, Autosomal Recessive 8
Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia OMIM:615085
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Recurrent fractures, Genu valgum, Broad femoral head, Redu... OMIM:620639
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mineral density, ... ORPHA:1782
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Spar... OMIM:600081
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Delayed patellar ossification, Abnormal femoral neck/h... ORPHA:163649
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Abnormal cortical bone ... ORPHA:2097
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... ORPHA:73
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... OMIM:300554
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology ORPHA:1522
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Cortical thickening of long b... ORPHA:1310
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony co... OMIM:619638
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Abnormal cortical ... ORPHA:1486
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... OMIM:156500
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Generalized oste... OMIM:617952
X-Linked Hypophosphatemia
Flattening of the talar dome, Upper limb metaphyseal widening, Shortening of the talar neck, Rick... ORPHA:89936
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Short humerus, Lateral femoral bowing, Bowing of the ... OMIM:239000
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Dysosteosclerosis
Short diaphyses, Osteopenia, Broad femoral neck, Flared metaphysis, Sclerosis of hand bone, Scler... OMIM:224300
Ck Syndrome
Abnormal digit morphology, Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Ophthalmomandibulomelic Dysplasia
Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Limitation of joint mobi... ORPHA:2741
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Hypophosphatemic rickets, Fibular bo... OMIM:241530
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia OMIM:612840
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Bruck Syndrome 2
Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to fractures, Kne... OMIM:609220
Camurati-Engelmann Disease
Sclerosis of skull base, Genu valgum, Anemia, Cortical thickening of long bone diaphyses, Increas... OMIM:131300
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Femoral bowing, Recurrent fractures OMIM:126550
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Finger clinodactyly ORPHA:3352
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Clinodactyly of the 5th finger, Osteopetrosis OMIM:617306
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Osteopetrosis, Anemia, Di... OMIM:259730
Dysostosis, Stanescu Type
Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ... ORPHA:1798
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Cranial hyperos... OMIM:123000
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges... ORPHA:2484
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300009
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
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
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib... OMIM:112350
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... OMIM:602080
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperostosis OMIM:176920
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Flared metaphysis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancyt... OMIM:259720
Kenny-Caffey Syndrome, Type 2
Anemia, Thickened cortex of long bones, Increased bone mineral density, Abnormality of the medull... OMIM:127000
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis,... ORPHA:94089
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Osteopathia Striata-Cranial Sclerosis Syndrome
High iliac wing, Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increa... ORPHA:2780
Pycnodysostosis
Coronal craniosynostosis, Small hand, Rhizomelia, Short finger, Hypoplastic iliac wing, Hepatospl... ORPHA:763
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Abnormal low... OMIM:602433
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo... OMIM:608728
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... OMIM:259600
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Oste... ORPHA:289157
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Pycnodysostosis
Aplastic clavicle, Brachydactyly, Narrow iliac wing, Increased bone mineral density, Osteolytic d... OMIM:265800
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp... ORPHA:50945
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Osteosclerosis of the base of the skull OMIM:609993
Pachydermoperiostosis
Small hand, Clubbing of toes, Limitation of joint mobility, Abnormal epiphysis morphology, Osteom... ORPHA:2796
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Abnormal epiphysis morphology, Osteomyelitis, Hyperostosis, Abnormal... ORPHA:324964
Lenz-Majewski Hyperostotic Dwarfism
Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ... ORPHA:2658
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Short thumb, Camptodactyly of finger, Carpal synostosis, Preaxial pol... ORPHA:90652
Osteogenesis Imperfecta, Type Viii
Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Decreased calvarial ... OMIM:610915
Stüve-Wiedemann Syndrome
Osteopenia, Limitation of joint mobility, Micromelia, Camptodactyly of finger, Elbow flexion cont... ORPHA:3206
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Poems Syndrome
Polycythemia, Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Metaphysea... ORPHA:2905
Erdheim-Chester Disease
Abnormal epiphysis morphology, Osteomyelitis, Anemia, Increased bone mineral density, Abnormal me... ORPHA:35687
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Abnormal tibia morphology, Abn... ORPHA:249
Osteogenesis Imperfecta, Type X
Osteopenia, Rhizomelia, Micromelia, Genu valgum, Fibular bowing, Tibial bowing, Joint hypermobili... OMIM:613848
Gaucher Disease Type 3
Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Thrombocytopenia, Anemia, Incr... ORPHA:77261
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Cleidocranial Dysplasia 1
Aplastic clavicle, Hypoplastic scapulae, Hypoplastic iliac wing, Cone-shaped epiphyses of the pha... OMIM:119600
Osteogenesis Imperfecta, Type Iv
Femoral bowing present at birth, straightening with time, Increased susceptibility to fractures, ... OMIM:166220
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased skull ossificati... OMIM:618476
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly OMIM:618541
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Coarse metaphyseal trabecularization, Flared metaphysis, Thickened cortex of long bones, Hip dysp... OMIM:620558
Trigeminal Neuralgia
Depression, Paresthesia, Somatic sensory dysfunction, Allodynia ORPHA:221091
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... OMIM:311300
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca... ORPHA:79444
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Osteogenesis Imperfecta, Type I
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Joint hypermobility, Hip dyspl... OMIM:166200
Werner Syndrome
Small hand, Joint stiffness, Osteoporosis, Rocker bottom foot, Increased bone mineral density ORPHA:902
Desmosterolosis
Micromelia, Splenomegaly, Osteopetrosis, Metatarsus adductus, Increased bone mineral density ORPHA:35107
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Anemia OMIM:612301
Pseudohypoparathyroidism Type 1A
Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossifica... ORPHA:79443
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Neurogenic bladder, Orthostatic hypotension OMIM:263570
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Osteopoikilosis, Abnormality of the spleen ORPHA:94063
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Proximal femoral epiphysiolysis, Short fourth metatarsal, Overlapping toe, Small epip... OMIM:616723
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Limitation of joint mobility, Hypoplastic iliac wing, Genu valgum, Multicen... OMIM:223800
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Micromelia, Abnormal epiphysis morphology, Joint stiffness, Protrus... ORPHA:800
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Raine Syndrome
Micromelia, Long hallux, Bowing of the long bones, Subperiosteal bone formation, Brachydactyly, I... OMIM:259775
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Complex Regional Pain Syndrome
Dysesthesia, Trophic changes related to pain, Somatic sensory dysfunction, Allodynia ORPHA:83452
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Small hand, Short foot, Short palm OMIM:241410
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Abnormal cortical bone morphology, Increased susceptibility to fr... ORPHA:2769
Dent Disease
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae... ORPHA:1652
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... OMIM:620076
Trichothiodystrophy
Osteopenia, Increased mean corpuscular hemoglobin concentration, Multiple joint contractures, Clu... ORPHA:33364
Gaucher Disease
Splenic infarction, Osteopenia, Pathologic fracture, Osteomyelitis, Joint stiffness, Recurrent fr... ORPHA:355
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Limb undergrowth, Thin bony cortex, Coxa v... OMIM:230600
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Metaphyseal dysplasia, Femoral bowing, Limited elbow extension, Knee ... OMIM:618019
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Autosomal Recessive Malignant Osteopetrosis
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Splenomegaly, Bowing of the long b... ORPHA:667
Geroderma Osteodysplasticum
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Tibial bowing, Camptodactyly, ... OMIM:231070
Oculodentodigital Dysplasia
Toe syndactyly, Finger syndactyly, Cranial hyperostosis, Camptodactyly of finger, Clinodactyly, P... ORPHA:2710
Campomelic Dysplasia
Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, Femoral bowing, Tibial bowing,... ORPHA:140
Desmosterolosis
Joint contracture of the hand, Rhizomelia, Generalized osteosclerosis, Bilateral talipes equinova... OMIM:602398
Sclerosteosis 1
Abnormal pelvic girdle bone morphology, Deviation of finger, Facial palsy secondary to cranial hy... OMIM:269500
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humer... OMIM:211350
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Small hand, Short foot ORPHA:2323
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Splenic cyst, Subperiosteal bone fo... OMIM:618188
Osteogenesis Imperfecta
Abnormal tibia morphology, Genu valgum, Decreased skull ossification, Bowing of the long bones, D... ORPHA:666
Frank-Ter Haar Syndrome
Osteopenia, Flared metaphysis, Cortical irregularity, Bowing of the long bones, Talipes equinovar... OMIM:249420
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Long hallux, Talipes equinovarus, Thin bony cortex, Long fingers, Osteoporosis, Recurrent fractur... OMIM:309583
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Faciocardiomelic Syndrome
Osteopenia, Slender long bone, Hypoplastic pelvis, Polydactyly, Thin bony cortex OMIM:612731
Spondyloocular Syndrome
Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long toe, Thin bony cortex, Long fin... OMIM:605822
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ... ORPHA:3003
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cranial nerve compression, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Joint stiffness, Brachydactyly, Thin bony cortex, Broad metatarsal, ... OMIM:277600
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Hepatosplenome... OMIM:274000
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Craniotubular Dysplasia, Ikegawa Type
Broad femoral neck, Sclerosis of skull base, Diaphyseal dysplasia, Broad ischia, Thin bony cortex... OMIM:619727
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista... OMIM:269150
Atypical Werner Syndrome
Limitation of joint mobility, Finger clinodactyly, Sclerosis of hand bone, Osteolytic defects of ... ORPHA:79474
Weill-Marchesani Syndrome 2
Broad phalanges of the hand, Short finger, Elbow flexion contracture, Joint stiffness, Brachydact... OMIM:608328
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Osteopetrosis, Thrombocytopenia, Elliptocytosis, Anemia, Recurrent frac... ORPHA:2785
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, El... OMIM:276820
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Pancytopenia, Joint hypermobility, Thin bony cortex, Anemia, Reduced bone mi... OMIM:613658
Williams Syndrome
Synostosis of joints, Osteopenia, Abnormal pelvic girdle bone morphology, Joint stiffness, Genu v... ORPHA:904
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Aspartylglucosaminuria
Joint stiffness, Abnormal cortical bone morphology, Splenomegaly, Abnormal morphology of ulna, Ar... ORPHA:93
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720

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 Frzb

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 Frzb.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Frzbtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Frzbtm40235(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Frzbtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Frzbtm40235(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Frzbtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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