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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)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Dense metaphyseal bands, Metaphyseal dysplasia, Clavicular sclerosis 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
Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Arthritis, Sclerosis of foo... ORPHA:564003
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone... 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
Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... OMIM:166740
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... ORPHA:3416
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... 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
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Bowing... ORPHA:53697
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Osteopetrosis, Erlenmeyer flask de... OMIM:611497
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Isolated Osteopoikilosis
Tarsal sclerosis, Abnormal bone ossification, Abnormal long bone morphology, Increased bone miner... ORPHA:166119
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Limitation of movement at ankles, Tibial torsion, Sclerosis of f... ORPHA:566943
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Refrac... OMIM:231095
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Abnormality of l... ORPHA:2204
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... OMIM:600785
Eiken Syndrome
Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... ORPHA:79106
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteopetrosis, Autosomal Dominant 1
Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Thi... OMIM:607634
Weismann-Netter Syndrome
Anemia, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bow... ORPHA:3344
Intermediate Osteopetrosis
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Erlenmeyer fla... ORPHA:210110
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal bone ossification, Coxa vara, Abnormality of the epiphysis of the fe... ORPHA:2114
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Increased bone mineral density, Synostosis of carpal bones, Abno... ORPHA:90650
Metaphyseal Chondrodysplasia, Spahr Type
Genu varum, Progressive leg bowing, Short lower limbs, Hip dysplasia, Metaphyseal chondrodysplasi... ORPHA:2501
Melorheostosis
Arthritis, Increased bone mineral density, Joint stiffness, Hyperostosis, Ectopic ossification in... ORPHA:2485
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Bowing of the long bones, Osteolysis OMIM:174810
Distal Osteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis OMIM:126250
Flynn-Aird Syndrome
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... OMIM:136300
Osteopetrosis, Autosomal Recessive 4
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, O... OMIM:611490
Caffey Disease
Joint hypermobility, Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Cal... OMIM:114000
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Tapered finger, Abnormal cortical bone morphology, Osteolysis, Abnormal hip ... ORPHA:970
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... OMIM:166600
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... OMIM:144750
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... OMIM:601376
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Short foot, Abnormal cortical bone morphology, Limitation of joint mobili... ORPHA:166277
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Genu varum, Delayed ossification of carpal bones, Bowing of the legs, Irregular acetabular roof, ... OMIM:617974
Albers-Schönberg Osteopetrosis
Anemia, Genu valgum, Osteomyelitis, Recurrent fractures, Arthritis, Abnormal metacarpal morpholog... ORPHA:53
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, ... OMIM:166260
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Generalized osteosclerosis, Short long bone ORPHA:1423
Pyle Disease
Thin bony cortex, Genu valgum, Limited elbow extension, Metaphyseal dysplasia, Metaphyseal wideni... OMIM:265900
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis OMIM:122860
Osteogenesis Imperfecta, Type Xxii
Thin bony cortex, Recurrent fractures, Pseudoarthrosis, Slender long bone, Multiple prenatal frac... OMIM:619795
Cranio-Osteoarthropathy
Arthritis, Clubbing of toes, Abnormal cortical bone morphology, Abnormality of tibia morphology, ... ORPHA:1525
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Short femoral neck, Coxa vara, Decreased hip abduction, Flared iliac wing, Proximal f... OMIM:183849
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Osteopetrosis, Autosomal Recessive 1
Anemia, Osteomyelitis, Coxa vara, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral... OMIM:259700
Osteopetrosis, Autosomal Recessive 2
Anemia, Genu valgum, Osteomyelitis, Recurrent fractures, Pancytopenia, Decreased osteoclast count... OMIM:259710
Paget Disease Of Bone 3
Osteolysis, Patchy osteosclerosis, Fractures of the long bones OMIM:167250
Schnitzler Syndrome
Anemia, Increased bone mineral density, Arthritis, Leukocytosis, Splenomegaly ORPHA:37748
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing OMIM:615066
Buschke-Ollendorff Syndrome
Flexion contracture, Recurrent fractures, Cutaneous finger syndactyly, Arthritis, Osteopoikilosis... ORPHA:1306
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Diastrophic Dysplasia
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Increased bone minera... ORPHA:628
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Broad femoral neck, Coxa valga, Short tubular bones of the hand, Increased bone... ORPHA:85184
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Coarse metaphyseal trabecularization, ... ORPHA:2635
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Flared metaphysis, Advanced ta... OMIM:215045
Osteogenesis Imperfecta, Type Xiii
Wide pubic symphysis, Recurrent fractures, Wide distal femoral metaphysis, Angulated humerus, Inc... OMIM:614856
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Osteopetrosis, Splenomegaly OMIM:615085
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... ORPHA:93284
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... OMIM:600081
Dysosteosclerosis
Recurrent fractures, Increased bone mineral density, Coarse metaphyseal trabecularization, Cranio... ORPHA:1782
Majeed Syndrome
Increased susceptibility to fractures, Metaphyseal irregularity, Flexion contracture, Osteomyelit... ORPHA:77297
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... OMIM:300554
Grant Syndrome
Abnormal cortical bone morphology, Abnormality of the glenoid fossa, Abnormal pelvic girdle bone ... ORPHA:2097
Craniometaphyseal Dysplasia
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... ORPHA:93356
Gorham-Stout Disease
Osteomyelitis, Abnormal bone ossification, Abnormal finger morphology, Osteolysis involving bones... ORPHA:73
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Angioosteohypotrophic Syndrome
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Hypoplasia of the ... ORPHA:75508
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Coxa valga, Increased bone mineral density, Flat acetabular roof, Abn... ORPHA:163649
Caffey Disease
Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical irregularity, Corti... ORPHA:1310
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Slender long bone, Abnormal cortical bone morphology, Limitation of joint mo... ORPHA:1486
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal irregularity, Genu valgum, Metaphyseal sclerosis, Proximal femoral metaph... OMIM:156500
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 4th metacarpal, Short 5th metacarpal, Femoral bowing, Broad thumb OMIM:619638
X-Linked Hypophosphatemia
Shortening of the talar neck, Abnormal lower-limb metaphysis morphology, Genu valgum, Genu varum,... ORPHA:89936
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Dysosteosclerosis
Short diaphyses, Increased susceptibility to fractures, Short sternum, Broad femoral neck, Sclero... OMIM:224300
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Increased bone mineral density, Short humerus, Ankylosis, Lateral femoral bo... OMIM:239000
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Recurrent fractures, Joint laxity, Joint hypermobility, Femoral bowing, General... OMIM:617952
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... OMIM:241530
Gaucher Disease Type 1
Leukopenia, Anemia, Increased bone mineral density, Hypersplenism, Pancytopenia, Osteolysis, Oste... ORPHA:77259
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Splenomegaly OMIM:612840
Ck Syndrome
Abnormal digit morphology, Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing OMIM:126550
Camurati-Engelmann Disease
Anemia, Genu valgum, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... OMIM:131300
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Finger clinodactyly ORPHA:3352
Craniometaphyseal Dysplasia, Autosomal Dominant
Calvarial osteosclerosis, Erlenmeyer flask deformity of the femurs, Abnormal pelvic girdle bone m... OMIM:123000
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Autosomal Recessive Hypophosphatemic Rickets
Genu varum, Coxa vara, Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral ... ORPHA:289176
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Osteopetrosis, Autosomal Recessive 3
Anemia, Osteopetrosis, Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Cr... OMIM:259730
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Trapezoidal distal femoral condyles, Genu valgum, Metaphyseal irreg... OMIM:307800
Bruck Syndrome 2
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Elbow flexi... OMIM:609220
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Dent Disease 1
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... OMIM:300009
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Coxa valga, Craniofacial hyperostosis, Abnormal ... ORPHA:2484
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... OMIM:264700
Paget Disease Of Bone 2, Early-Onset
Increased susceptibility to fractures, Bowing of the long bones, Short femur, Femoral bowing, Ost... OMIM:602080
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... OMIM:277440
Weismann-Netter Syndrome
Anterior tibial bowing, Lateral femoral bowing, Fibular bowing, Calvarial hyperostosis, Squared i... OMIM:112350
Proteus Syndrome
Thin bony cortex, Facial hyperostosis, Calvarial hyperostosis, Splenomegaly, Mandibular hyperostosis OMIM:176920
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density, Brachydactyly, Abnormal m... ORPHA:1798
Osteopetrosis, Autosomal Recessive 5
Hip subluxation, Anemia, Increased bone mineral density, Pancytopenia, Hepatosplenomegaly, Decrea... OMIM:259720
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor... OMIM:602111
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, Increased bone mineral density, Coarse metaphyseal trabecularization, Facial hy... ORPHA:2780
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density, Anemia, Abnormality of the medull... OMIM:127000
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... OMIM:602433
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Multicentric Osteolysis, Nodulosis, And Arthropathy
Wrist flexion contracture, Thin bony cortex, Metacarpal osteolysis, Thin metacarpal cortices, Pro... OMIM:259600
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Increased susceptibility to fractures, Genu varum, Osteomalacia, Tibial bowing,... ORPHA:289157
Pycnodysostosis
Hypoplastic iliac wing, Increased susceptibility to fractures, Small hand, Coronal craniosynostos... ORPHA:763
Pycnodysostosis
Aplastic clavicle, Increased bone mineral density, Narrow iliac wing, Osteolytic defects of the d... OMIM:265800
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Flat acetabula... OMIM:608728
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Osteomyelitis, Arthritis, Osteolysis, Craniofacial osteosclerosis, Hyperostosis, Abnormal... ORPHA:324964
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Hypoplastic iliac wi... OMIM:228930
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Hypoplastic inferior ... OMIM:608940
Pachydermoperiostosis
Genu varum, Splenomegaly, Anemia, Osteomyelitis, Small hand, Arthritis, Abnormal cortical bone mo... ORPHA:2796
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Subperiosteal bone formation OMIM:609993
Lenz-Majewski Hyperostotic Dwarfism
Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Finger syndactyly, Abnormal... ORPHA:2658
Acromesomelic Dysplasia 2C
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... OMIM:201250
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Short thumb, Increased bone mineral density, Synostosis of carpal bones,... ORPHA:90652
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Short metacarpal, Femoral retroversion, Radial bowing, Slender long bone, Jo... OMIM:610915
Poems Syndrome
Metaphyseal sclerosis, Sclerosis of foot bone, Polycythemia, Clubbing of fingers, Thrombocytosis,... ORPHA:2905
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Cervical spinal c... ORPHA:35689
Fibrous Dysplasia Of Bone
Thin bony cortex, Coxa vara, Osteomalacia, Abnormality of the humerus, Abnormal morphology of the... ORPHA:249
Blomstrand Lethal Chondrodysplasia
Metaphyseal cupping, Aplastic clavicle, Short metacarpal, Increased bone mineral density, Synosto... ORPHA:50945
Gaucher Disease Type 3
Increased susceptibility to fractures, Anemia, Increased bone mineral density, Pancytopenia, Oste... ORPHA:77261
Erdheim-Chester Disease
Anemia, Osteomyelitis, Increased bone mineral density, Osteolysis, Abnormal metaphysis morphology... ORPHA:35687
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Erlenmeyer flask deformity of the femurs, Increased skull ossification, Diaphyseal sclerosis, Cra... OMIM:618476
Osteogenesis Imperfecta, Type Iv
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract... OMIM:166220
Cleidocranial Dysplasia 1
Hypoplastic iliac wing, Increased susceptibility to fractures, Aplastic clavicle, Coxa vara, Shor... OMIM:119600
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly OMIM:618541
Otopalatodigital Syndrome, Type I
Coxa valga, Abnormality of the fifth metatarsal bone, Short 4th metacarpal, Toe syndactyly, Hip d... OMIM:311300
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Knee flexion contracture, Genu valgum, Flexion contracture, Recurrent fr... ORPHA:3206
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia, Osteopetrosis ORPHA:3240
Pseudohypoparathyroidism Type 1C
Broad distal phalanx of the thumb, Short 4th metacarpal, Short 5th metacarpal, Ectopic ossificati... ORPHA:79444
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology OMIM:613724
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... ORPHA:94089
Pseudohypoparathyroidism Type 1A
Broad distal phalanx of the thumb, Short 4th metacarpal, Short 5th metacarpal, Ectopic ossificati... ORPHA:79443
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Werner Syndrome
Small hand, Increased bone mineral density, Joint stiffness, Osteoporosis, Rocker bottom foot ORPHA:902
Osteogenesis Imperfecta, Type X
Thin bony cortex, Genu valgum, Generalized joint laxity, Joint laxity, Short femur, Osteopenia, D... OMIM:613848
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Abnormal upper motor neuron morphology, Neurogenic bladder OMIM:263570
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short femoral neck, Short metacarpal, Narrow pelvis bone, Carpal bone hypoplasia, Femoral bowing,... OMIM:616723
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Clinodactyly of the 5th finger, Osteopoikilosis ORPHA:94063
Osteopetrosis, Autosomal Recessive 7
Anemia, Abnormal trabecular bone morphology, Osteopetrosis, Femur fracture, Splenomegaly OMIM:612301
Desmosterolosis
Increased bone mineral density, Osteopetrosis, Splenomegaly, Metatarsus adductus ORPHA:35107
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Osteogenesis Imperfecta, Type I
Increased susceptibility to fractures, Recurrent fractures, Femoral bowing, Joint hypermobility, ... OMIM:166200
Dyggve-Melchior-Clausen Disease
Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Hypoplastic iliac wing, Genu val... OMIM:223800
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Schwartz-Jampel Syndrome
Metatarsus valgus, Wrist flexion contracture, Protrusio acetabuli, Genu valgum, Hip contracture, ... ORPHA:800
Familial Osteodysplasia, Anderson Type
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Aplasia/hypoplasia... ORPHA:2769
Raine Syndrome
Increased bone mineral density, Long hallux, Subperiosteal bone formation, Brachydactyly, Bowing ... OMIM:259775
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Short palm, Patchy osteosclerosis, Short foot, Small hand OMIM:241410
Complex Regional Pain Syndrome
Somatic sensory dysfunction, Trophic changes related to pain, Dysesthesia, Allodynia ORPHA:83452
Gaucher Disease
Splenomegaly, Anemia, Osteomyelitis, Recurrent fractures, Increased bone mineral density, Pancyto... ORPHA:355
Early-Onset Schizophrenia
Diminished motivation, Abnormal emotion/affect behavior, Suicidal ideation, Unhappy demeanor, Emo... ORPHA:96369
Dent Disease
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... ORPHA:1652
Trigeminal Neuralgia
Episodic paroxysmal anxiety, Somatic sensory dysfunction, Allodynia, Paresthesia ORPHA:221091
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Multiple joint contractures, Increas... ORPHA:33364
Geroderma Osteodysplasticum
Increased susceptibility to fractures, Recurrent fractures, Hyperextensibility of the finger join... OMIM:231070
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Anemia, Recurrent fractures, Abnormal metaphysis morphology, Abnormal e... ORPHA:667
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Gm1-Gangliosidosis, Type Ii
Thin bony cortex, Sea-blue histiocytosis, Coxa valga, Joint stiffness, Splenomegaly OMIM:230600
Oculodentodigital Dysplasia
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Clinodacty... ORPHA:2710
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Anemia, Metaphyseal cupping, Coxa vara, Joint laxity, Lymphopenia, Joint h... OMIM:250250
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Campomelic Dysplasia
Tracheobronchomalacia, Recurrent fractures, Short long bone, Hypoplastic inferior ilia, Hip dislo... ORPHA:140
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Antley-Bixler Syndrome
Camptodactyly of finger, Recurrent fractures, Elbow ankylosis, Narrow pelvis bone, Femoral bowing... ORPHA:83
Sanjad-Sakati Syndrome
Short foot, Patchy osteosclerosis, Small hand ORPHA:2323
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, 2-3 finger syndactyly, Sclerotic scapulae, Abnorm... OMIM:269500
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Camptod... OMIM:601559
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Knee flexion contracture, Genu valgum, Metaphyseal irregularity, Short 4th metacarpal, Short femo... OMIM:618019
Hyperparathyroidism, Transient Neonatal
Recurrent fractures, Short long bone, Splenic cyst, Short femur, Femoral bowing, Fractured rib, O... OMIM:618188
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Flexion contracture, Humeroradial synostosis, Coronal craniosynostosis, Narrow pelvis bone, Campt... OMIM:207410
Kyphomelic Dysplasia
Short metacarpal, Radial bowing, Flat acetabular roof, Ulnar bowing, Limitation of joint mobility... OMIM:211350
Osteogenesis Imperfecta
Flexion contracture, Dislocated radial head, Abnormal metaphysis morphology, Thrombocytopenia, In... ORPHA:666
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Decreased nerve conduction velocity, Abnormal lower motor... OMIM:606070
Faciocardiomelic Syndrome
Thin bony cortex, Polydactyly, Slender long bone, Hypoplastic pelvis, Osteopenia OMIM:612731
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thin bony cortex, Recurrent fractures, Hyperextensibility of the finger joints, Long hallux, Long... OMIM:309583
Frank-Ter Haar Syndrome
Short phalanx of finger, Short long bone, Hip dysplasia, Camptodactyly, Metatarsus adductus, Cort... OMIM:249420
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cranial nerve compression, Abnormal motor neuron morphology, Amyotrophic lateral sclerosis ORPHA:52430
Weill-Marchesani Syndrome 1
Thin bony cortex, Broad phalanges of the hand, Broad metatarsal, Broad metacarpals, Brachydactyly... OMIM:277600
Spondyloocular Syndrome
Thin bony cortex, Overlapping toe, Osteopenia, Long toe, Arachnodactyly, Long fingers, Femur frac... OMIM:605822
Craniotubular Dysplasia, Ikegawa Type
Thin bony cortex, Metaphyseal dysplasia, Broad femoral neck, 3-4 finger syndactyly, Short palm, S... OMIM:619727
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Hepatosplenomegaly, Phocomeli... OMIM:274000
Atypical Werner Syndrome
Osteolytic defects of the phalanges of the hand, Finger clinodactyly, Increased bone mineral dens... ORPHA:79474
Pyknoachondrogenesis
Short long bone, Poorly ossified vertebrae, Abnormal intramembranous ossification, Craniofacial h... ORPHA:3003
Van Den Ende-Gupta Syndrome
Tapered finger, Hallux valgus, Elbow flexion contracture, Slender metacarpals, Dislocated radial ... OMIM:600920
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Weill-Marchesani Syndrome 2
Thin bony cortex, Broad phalanges of the hand, Short metacarpal, Elbow flexion contracture, Short... OMIM:608328
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Wide distal femoral metaphysis, Short 1st metacarpal, Tibial bowing, Increased den... OMIM:269150
Primary Hyperoxaluria
Recurrent fractures, Generalized osteosclerosis ORPHA:416
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Anemia, Recurrent fractures, Elliptocytosis, Pancytopenia, Thrombocytopenia, Osteopet... ORPHA:2785
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... OMIM:276820
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Elbow contracture, Broad hallux, Short hallux, Postaxial hand polydactyly, Sclero... OMIM:304120
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Anemia, Joint laxity, Pancytopenia, Rickets, Osteopenia, Reduced bone mineral d... OMIM:613658
Williams Syndrome
Genu valgum, Hallux valgus, Increased bone mineral density, Radioulnar synostosis, Joint laxity, ... ORPHA:904
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he... ORPHA:90041
Aspartylglucosaminuria
Arthritis, Abnormal cortical bone morphology, Abnormal morphology of ulna, Joint stiffness, Splen... ORPHA:93
Duodenal Neuroendocrine Tumor
Increased hematocrit, Iron deficiency anemia ORPHA:100076
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.

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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
Frzbtm40235(L1L2_gt1) 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
Frzbtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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