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

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 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)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Dense metaphyseal bands, Metaphyseal dysplasia OMIM:615198
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Abnormality of t... ORPHA:564003
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c... 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
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology, Diaphyseal u... ORPHA:3416
Sclerosteosis
Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas... ORPHA:3152
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis 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, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteomyelitis, R... ORPHA:53697
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth, Splenomegaly... ORPHA:2204
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Knee osteoarthritis, Arthritis, Abnormality of the os naviculare... ORPHA:566943
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Ghosal Hematodiaphyseal Dysplasia
Diaphyseal dysplasia, Increased bone mineral density, Refractory anemia, Myelofibrosis, Thrombocy... 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
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Abnormal pelvic girdle bone morphology, Thickened cortex... OMIM:607634
Eiken Syndrome
Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi... ORPHA:79106
Intermediate Osteopetrosis
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplen... ORPHA:210110
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... ORPHA:3344
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Hip dysplasia, Coxa vara, Broad ... ORPHA:2114
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Increased bone mineral d... ORPHA:90650
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Osteolysis, Bowing of the long bones OMIM:174810
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... OMIM:136300
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Reduced bone mineral density, Bowing of the long bones, Short low... ORPHA:2501
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, Splenom... OMIM:611490
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Cortical irregularity, Perio... OMIM:114000
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Limb undergrowth, Generalized osteosclerosis ORPHA:1423
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab... ORPHA:970
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel... OMIM:166600
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Osteopetrosis, Autosomal Recessive 9
Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Pathologic fracture OMIM:620366
Melorheostosis
Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, J... ORPHA:2485
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin... ORPHA:166277
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Me... OMIM:617974
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi... OMIM:144750
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Albers-Schönberg Osteopetrosis
Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Arthritis, R... ORPHA:53
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus... OMIM:166260
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Genu valgum, Metaphyseal widening, Metaphy... OMIM:265900
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac... OMIM:619795
Cranio-Osteoarthropathy
Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Joint stiffness, Deviati... ORPHA:1525
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology, Decreased motor nerve conduction velocity DECIPHER:29
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Genu valgum, Anemia, Diaphyseal sclerosis, Pancytopenia, Rec... OMIM:259710
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Anemia, Pancytopenia, Increased bone min... OMIM:259700
Schnitzler Syndrome
Anemia, Increased bone mineral density, Arthritis, Leukocytosis, Splenomegaly ORPHA:37748
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Proximal placement of thumb, Abnormal metacarpal mo... ORPHA:628
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, Decreased me... OMIM:616943
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Metatropic Dysplasia
Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger... ORPHA:2635
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera... ORPHA:85184
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os... ORPHA:93284
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Chondrodysplasia, Blomstrand Type
Flared metaphysis, Squared iliac bones, Micromelia, Advanced tarsal ossification, Generalized ost... OMIM:215045
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Osteogenesis Imperfecta, Type Xiii
Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral metaphysis, Increa... OMIM:614856
Majeed Syndrome
Hypochromic microcytic anemia, Increased bone mineral density, Leukocytosis, Synovitis, Flexion c... ORPHA:77297
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly OMIM:615085
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Reduced bone mineral density, Genu valgum, Broad femoral head, Shallow acetabular fos... OMIM:620639
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Dysosteosclerosis
Abnormal metaphysis morphology, Craniofacial hyperostosis, Increased bone mineral density, Coarse... ORPHA:1782
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b... OMIM:600081
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Abnormal femoral neck/head morphology, Increased bone mineral density... ORPHA:163649
Grant Syndrome
Abnormal cortical bone morphology, Decreased skull ossification, Bowing of the long bones, Abnorm... ORPHA:2097
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Osteolysis involving bones of ... ORPHA:73
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin... OMIM:300554
Craniometaphyseal Dysplasia
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P... OMIM:112250
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Caffey Disease
Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortical irregularity, Corti... ORPHA:1310
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Short 5th metacarpal, Thin bony co... OMIM:619638
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of... ORPHA:1486
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... OMIM:156500
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Joint hypermobility, Recurren... OMIM:617952
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Genu valgum, Abnormal lower-limb m... ORPHA:89936
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Bowing of the long bones, Osteoporosis, Lateral femor... OMIM:239000
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Dysosteosclerosis
Osteopenia, Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculation,... OMIM:224300
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... ORPHA:2741
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin... OMIM:241530
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedullary hematopoiesis OMIM:612840
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Bruck Syndrome 2
Osteopenia, Elbow flexion contracture, Femoral bowing, Flexion contracture, Knee flexion contract... OMIM:609220
Camurati-Engelmann Disease
Genu valgum, Anemia, Diaphyseal sclerosis, Increased bone mineral density, Cortical thickening of... OMIM:131300
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Femoral bowing, Recurrent fractures, Osteoporosis 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, Osteopetrosis, Clinodactyly of the 5th finger OMIM:617306
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedul... OMIM:259730
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Increased bone mineral density, Bowing of the long bones, Microme... ORPHA:1798
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Craniometaphyseal Dysplasia, Autosomal Dominant
Cranial hyperostosis, Calvarial osteosclerosis, Flared metaphysis, Abnormal pelvic girdle bone mo... OMIM:123000
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b... OMIM:300009
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped metaphyses of hand bones, ... OMIM:307800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b... OMIM:277440
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i... OMIM:112350
Paget Disease Of Bone 2, Early-Onset
Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the long bones... OMIM:602080
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Proteus Syndrome
Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex OMIM:176920
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... OMIM:602111
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Hip subluxation, Anemia, Hypochromic microcytic anemia, Panc... OMIM:259720
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Anemia, Abnormality of the medullary cavity of the long bones, Th... OMIM:127000
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphyses, Increase... ORPHA:94089
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Osteopetrosis, Increased bone mineral density, Large iliac wing, ... ORPHA:2780
Pycnodysostosis
Short finger, Rhizomelia, Generalized osteosclerosis, Increased bone mineral density, Hypoplastic... ORPHA:763
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Amyotrophic Lateral Sclerosis 4, Juvenile
Decreased compound muscle action potential amplitude, Pallor of dorsal columns of the spinal cord... OMIM:602433
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata... OMIM:259600
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Subperiosteal bone resorption, Delayed epiphyseal ossification, Femoral bowing, Tibial b... ORPHA:289157
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Pycnodysostosis
Increased bone mineral density, Narrow iliac wing, Osteolytic defects of the distal phalanges of ... OMIM:265800
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Flared metaphysis, Increased bone mineral density, Metaphyseal cupping, Short metacar... ORPHA:50945
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Pachydermoperiostosis
Abnormal cortical bone morphology, Anemia, Arthritis, Limitation of joint mobility, Osteoporosis,... ORPHA:2796
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Osteosclerosis of the base of the skull OMIM:609993
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal metaphysis morphology, Anemia, Hyperostosis, Arthritis, Abnormal sacroiliac joint morpho... ORPHA:324964
Lenz-Majewski Hyperostotic Dwarfism
Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morph... ORPHA:2658
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h... ORPHA:90652
Osteogenesis Imperfecta, Type Viii
Osteopenia, Slender long bone, Femoral retroversion, Femoral bowing, Tibial bowing, Decreased sku... OMIM:610915
Stüve-Wiedemann Syndrome
Osteopenia, Abnormal metaphysis morphology, Genu valgum, Abnormal cortical bone morphology, Elbow... ORPHA:3206
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Poems Syndrome
Metaphyseal sclerosis, Clubbing of fingers, Sclerosis of hand bone, Sclerosis of foot bone, Polyc... ORPHA:2905
Erdheim-Chester Disease
Abnormal metaphysis morphology, Anemia, Increased bone mineral density, Osteolysis, Abnormal epip... ORPHA:35687
Fibrous Dysplasia Of Bone
Rickets, Abnormal femur morphology, Abnormal tibia morphology, Pathologic fracture, Abnormal bone... ORPHA:249
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Rhizomelia, Fibular bowing, Tibial bowing, Bowing of the long bones, Mic... OMIM:613848
Gaucher Disease Type 3
Anemia, Pancytopenia, Increased bone mineral density, Thrombocytopenia, Splenomegaly, Osteolysis,... ORPHA:77261
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Increased bo... OMIM:119600
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Bowing of... OMIM:166220
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Diaphyseal sclerosis, Metaphyseal widening, Erlenmeyer flask deformity of the femu... OMIM:618476
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly OMIM:618541
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Flared metaphysis, Increased bone mineral density, Coarse metaphyseal trabecularization, Hip dysp... OMIM:620558
Trigeminal Neuralgia
Depression, Allodynia, Somatic sensory dysfunction, Paresthesia ORPHA:221091
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Short metatarsal, Increased bone mineral density, Short fifth metatarsal, B... ORPHA:79444
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Osteogenesis Imperfecta, Type I
Osteopenia, Femoral bowing, Hip dysplasia, Joint hypermobility, Finger joint hypermobility, Recur... OMIM:166200
Werner Syndrome
Rocker bottom foot, Increased bone mineral density, Osteoporosis, Joint stiffness, Small hand ORPHA:902
Desmosterolosis
Osteopetrosis, Increased bone mineral density, Micromelia, Metatarsus adductus, Splenomegaly ORPHA:35107
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Anemia, Abnormal trabecular bone morphology, Splenomegaly OMIM:612301
Pseudohypoparathyroidism Type 1A
Short 4th metacarpal, Reduced bone mineral density, Short metatarsal, Increased bone mineral dens... ORPHA:79443
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Femoral bowing, Sho... OMIM:616723
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Neurogenic bladder, Orthostatic hypotension OMIM:263570
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Clinodactyly of the 5th finger, Osteopoikilosis ORPHA:94063
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Schwartz-Jampel Syndrome
Abnormal metaphysis morphology, Genu valgum, Flexion contracture of toe, Talipes equinovarus, Inc... ORPHA:800
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy ORPHA:35689
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Raine Syndrome
Subperiosteal bone formation, Increased bone mineral density, Bowing of the long bones, Micromeli... OMIM:259775
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Complex Regional Pain Syndrome
Dysesthesia, Allodynia, Somatic sensory dysfunction, Trophic changes related to pain ORPHA:83452
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Abnormal cortical bone morphology, Clinodactyly of the 5th finge... ORPHA:2769
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Small hand, Short palm, Short foot, Patchy osteosclerosis OMIM:241410
Dent Disease
Rickets, Delayed epiphyseal ossification, Enlarged epiphyses, Sparse bone trabeculae, Metaphyseal... ORPHA:1652
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Short tibia, Femoral bowing, Hyp... OMIM:620076
Trichothiodystrophy
Osteopenia, Anemia, Increased mean corpuscular hemoglobin concentration, Increased bone mineral d... ORPHA:33364
Gaucher Disease
Osteopenia, Anemia, Pancytopenia, Increased bone mineral density, Abnormal bone structure, Spleni... ORPHA:355
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Joint stiffness, Thin bony cortex, Limb undergrowth, Splenomegaly, Coxa v... OMIM:230600
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short long bone, Metaphyseal irregularity, Joint hypermobility, Short 4th metacar... OMIM:618019
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Bowing of th... ORPHA:667
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Femoral bowing, Tibial bowing, Camptodactyly... OMIM:231070
Oculodentodigital Dysplasia
Abnormal metaphysis morphology, Cranial hyperostosis, Abnormal cortical bone morphology, Clinodac... ORPHA:2710
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobronchomalacia, Fe... ORPHA:140
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Pathologic ... OMIM:601559
Cartilage-Hair Hypoplasia
Limited elbow extension, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macr... OMIM:250250
Desmosterolosis
Rhizomelia, Bilateral talipes equinovarus, Generalized osteosclerosis, Arthrogryposis multiplex c... OMIM:602398
Sclerosteosis 1
Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular bones,... OMIM:269500
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Flat acet... OMIM:211350
Antley-Bixler Syndrome
Femoral bowing, Joint stiffness, Camptodactyly of finger, Arachnodactyly, Elbow ankylosis, Narrow... ORPHA:83
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Sanjad-Sakati Syndrome
Small hand, Short foot, Patchy osteosclerosis ORPHA:2323
Achondroplasia
Limited elbow extension, Narrow greater sciatic notch, Rhizomelia, Ulnar bowing, Flared metaphysi... OMIM:100800
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Splenic cyst, Fractured rib, Femoral bowing, Short long... OMIM:618188
Osteogenesis Imperfecta
Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Dislocated... ORPHA:666
Frank-Ter Haar Syndrome
Osteopenia, Flared metaphysis, Short long bone, Bowing of the long bones, Camptodactyly, Cortical... OMIM:249420
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F... OMIM:608940
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Talipes equinovarus, Hyperextensibility of the finger joints, Osteoporosis, Long fingers, Long ha... OMIM:309583
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Femoral bowing, Camptodactyly, Cor... OMIM:207410
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Decreased nerve conduction velocity, Abnormal lower motor... OMIM:606070
Faciocardiomelic Syndrome
Osteopenia, Polydactyly, Slender long bone, Hypoplastic pelvis, Thin bony cortex OMIM:612731
Spondyloocular Syndrome
Osteopenia, Femur fracture, Arachnodactyly, Long fingers, Overlapping toe, Long toe, Thin bony co... OMIM:605822
Pyknoachondrogenesis
Short iliac bones, Craniofacial hyperostosis, Abnormal iliac wing morphology, Short long bone, Ap... ORPHA:3003
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Cranial nerve compression ORPHA:52430
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Joint stiffness, Brachydactyly,... OMIM:277600
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Craniotubular Dysplasia, Ikegawa Type
Diaphyseal dysplasia, Broad ischia, Broad femoral neck, Short palm, Metaphyseal dysplasia, Sclero... OMIM:619727
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:263400
Schinzel-Giedion Midface Retraction Syndrome
Short 1st metacarpal, Wide distal femoral metaphysis, Tibial bowing, Postaxial hand polydactyly, ... OMIM:269150
Van Den Ende-Gupta Syndrome
Dislocated radial head, Femoral bowing, Arachnodactyly, Slender metacarpals, Craniosynostosis, 2-... OMIM:600920
Atypical Werner Syndrome
Rocker bottom foot, Reduced bone mineral density, Osteolytic defects of the phalanges of the hand... ORPHA:79474
Weill-Marchesani Syndrome 2
Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Elbow fl... OMIM:608328
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... OMIM:613091
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Anemia, Pancytopenia, Elliptocytosis, Leukopenia, Thrombocytopenia, Recurrent frac... ORPHA:2785
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Postaxial hand ... OMIM:304120
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Anemia, Pancytopenia, Joint hypermobility, Thi... OMIM:613658
Williams Syndrome
Osteopenia, Genu valgum, Clinodactyly of the 5th finger, Increased bone mineral density, Synostos... ORPHA:904
Gaisböck Syndrome
Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin... ORPHA:90041
Aspartylglucosaminuria
Abnormal cortical bone morphology, Arthritis, Joint stiffness, Abnormal morphology of ulna, Splen... 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

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
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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