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
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
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 third metatarsal bone, Flattened metatarsal heads, Sclerosis of foot bone, Thi... ORPHA:564003
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Craniofacial hyperostosis... 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
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Tibial bowing, Cortical thickening of long b... OMIM:166740
Sclerosteosis
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Diaphyseal thickeni... ORPHA:3152
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Diaphyseal sclerosis, Diaphyseal dysplasia, Facial hyperostosis OMIM:218300
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandib... ORPHA:53697
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Diaphyseal thickening, Generalized osteosclerosi... ORPHA:2790
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Isolated Osteopoikilosis
Abnormal pelvis bone morphology, Sclerotic foci within carpal bones, Abnormal pelvis bone ossific... ORPHA:166119
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask de... OMIM:611497
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Mueller-Weiss Syndrome
Limitation of movement at ankles, Fragmented, irregular epiphyses, Sclerosis of foot bone, Joint ... ORPHA:566943
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Increased bone mineral density, Splenomegaly, Limb undergrow... ORPHA:2204
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Increased bone mineral density, Hyperostosis cranialis interna, Thromb... OMIM:231095
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Abnormal trabecular bone morphology, Sho... ORPHA:79106
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Osteopetrosis, Autosomal Dominant 1
Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosc... OMIM:607634
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Erlenmeyer flask deformity of the femurs, Increased susc... ORPHA:210110
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Metaphyseal dysplasia OMIM:615198
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormality of epiphysis morphology, Broad femo... ORPHA:2114
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endoste... OMIM:144750
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:614373
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Increased bone mineral density, Short palm,... ORPHA:90650
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Melorheostosis
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Hyperosto... ORPHA:2485
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Metaphyseal Chondrodysplasia, Spahr Type
Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Progressive leg bowing... ORPHA:2501
Familial Expansile Osteolysis
Thin bony cortex, Osteolysis, Bowing of the long bones, Pathologic fracture OMIM:174810
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Generalized osteosclerosis, Micromelia, Limb undergrowth, Short long bone ORPHA:1423
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Abnormality of epiphysis morphology, Tapered finger, Foot acroosteo... ORPHA:970
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, H... OMIM:166600
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... OMIM:601376
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Albers-Schönberg Osteopetrosis
Recurrent fractures, Abnormality of epiphysis morphology, Osteoarthritis, Abnormal leukocyte morp... ORPHA:53
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaph... OMIM:166260
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Squared iliac bones, General... OMIM:215045
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteopenia, Enlarged epiphyses, Osteoporosis, Camptodactyly, Joint contracture of the hand OMIM:264010
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Caffey Disease
Cortical irregularity, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular b... OMIM:114000
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Decreased hip abduction, Short femoral neck, Flared iliac wing, Flared humeral metaph... OMIM:183849
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis OMIM:122860
Cranio-Osteoarthropathy
Joint stiffness, Deviation of finger, Arthritis, Osteoarthritis, Abnormality of tibia morphology,... ORPHA:1525
Pycnodysostosis
Brachydactyly, Osteolytic defects of the distal phalanges of the hand, Abnormality of pelvic gird... OMIM:265800
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Femur fracture, Splenomegaly, Fla... OMIM:259700
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Splenomegaly, Anemia, Arthritis ORPHA:37748
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia, Osteopetrosis OMIM:615085
Diastrophic Dysplasia
Bowing of the long bones, Symphalangism affecting the phalanges of the hand, Joint stiffness, Inc... ORPHA:628
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Clinodactyly of the 5th finger, Micromelia, Ab... ORPHA:2635
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Joint stiffness, Abnormality of epiphysis morphology, Recu... ORPHA:1306
Osteogenesis Imperfecta, Type Xiv
Femoral bowing, Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Coxa valga, Broad femoral neck, Thin bony cortex, Ove... ORPHA:85184
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Arthralgia of the hip, Flattened femoral head, Abnormal shoul... ORPHA:93284
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Recurrent fractures, Splenomegaly, Anemia, Osteopetrosis, Reticulocytosis, Th... OMIM:611490
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:600081
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Dislocated radial head, Osteoporosis, Joint hypermobility, Arachn... OMIM:614856
Dysosteosclerosis
Increased bone mineral density, Recurrent fractures, Craniofacial hyperostosis, Abnormality of th... ORPHA:1782
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:300554
Majeed Syndrome
Metaphyseal irregularity, Leukocytosis, Increased bone mineral density, Congenital hypoplastic an... ORPHA:77297
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Gorham-Stout Disease
Cortical irregularity, Abnormal pelvis bone morphology, Osteopenia, Abnormal bone ossification, A... ORPHA:73
Grant Syndrome
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Decreased skull ossificat... ORPHA:2097
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormality of the metaphysis, Osteopetrosis ORPHA:1522
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Upper limb undergrowth, Hypoplasia o... ORPHA:75508
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Flattened epiphysis, Coxa valga, Increased bone mineral density, Abnormal bone os... ORPHA:163649
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fractures of the long bones, Bowing of the legs, Osteopenia, Patchy osteosclerosis, Metaphyseal s... OMIM:112250
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Recurrent fractures, Slender long bone, Abnormal cortical bone morp... ORPHA:1486
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 5th metacarpal, Short 4th metacarpal, Rhizomelia, Thin bony cortex, Broad thumb, Femoral bo... OMIM:619638
X-Linked Hypophosphatemia
Bowing of the long bones, Genu varum, Bowing of the legs, Craniosynostosis, Upper limb metaphysea... ORPHA:89936
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Enlargement of the proximal femoral epiphysis, Broad middle phalanx of finger, Metaph... OMIM:156500
Dysosteosclerosis
Narrow iliac wing, Clavicular sclerosis, Osteopenia, Progressive bowing of long bones, Short ster... OMIM:224300
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Recurrent fractures, Joint laxity, Joint hype... OMIM:617952
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Increased bone mineral density, Abnormal trabecul... ORPHA:289176
Caffey Disease
Cortical irregularity, Cortical thickening of long bone diaphyses, Calvarial hyperostosis, Perios... ORPHA:1310
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:241530
Paget Disease Of Bone 5, Juvenile-Onset
Bowing of the long bones, Osteopenia, Increased bone mineral density, Recurrent fractures, Latera... OMIM:239000
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Ophthalmomandibulomelic Dysplasia
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Limitation of join... ORPHA:2741
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Short tibia, Shor... ORPHA:93323
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Ck Syndrome
Abnormal digit morphology, Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Bruck Syndrome 2
Osteopenia, Elbow flexion contracture, Flexion contracture, Increased susceptibility to fractures... OMIM:609220
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Femoral bowing, Osteopenia, Osteoporosis OMIM:126550
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Increased bone mineral density, Osteopenia, Splenomegaly, Osteoarthriti... ORPHA:77259
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Anemia, Osteopetrosis, Extramedullary hematopoiesis OMIM:612840
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:264700
Camurati-Engelmann Disease
Diaphyseal sclerosis, Increased bone mineral density, Sclerosis of skull base, Anemia, Cortical t... OMIM:131300
Aplasia Cutis Congenita
Toe syndactyly, Finger syndactyly, Abnormality of bone mineral density ORPHA:1114
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Finger clinodactyly ORPHA:3352
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Cranial hyperostosis, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Osteopetrosis, Extramedul... OMIM:259730
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, L... OMIM:619598
Dent Disease 1
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:300009
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Joint hyperflexibility, Craniofacial hyperostosis, Cone-sha... ORPHA:2484
Acromesomelic Dysplasia 2A
Acromesomelia, Valgus hand deformity, Hypoplasia of the ulna, Flexion contracture, Fibular hypopl... OMIM:200700
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Osteoarthritis, Me... OMIM:602111
Proteus Syndrome
Splenomegaly, Mandibular hyperostosis, Facial hyperostosis, Thin bony cortex, Calvarial hyperostosis OMIM:176920
Dysostosis, Stanescu Type
Bowing of the long bones, Brachydactyly, Increased bone mineral density, Abnormality of epiphysis... ORPHA:1798
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Calvarial hyperostosis, Fibu... OMIM:112350
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:277440
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Pseudohypoparathyroidism Type 1B
Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal sclerosis, Increased bone den... ORPHA:94089
Hyperparathyroidism, Transient Neonatal
Femoral bowing, Osteopenia OMIM:618188
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Facial hyperostosis, Abnormality of the metaphysis, Osteopetrosis... ORPHA:2780
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormality of pelvic girdle bone morphology, Sclerosis of skull base, Club-shaped distal femur, ... OMIM:123000
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Degeneration of anterior horn... OMIM:602433
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Pycnodysostosis
Brachydactyly, Hepatosplenomegaly, Increased bone mineral density, Coronal craniosynostosis, Rhiz... ORPHA:763
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Anemia, Increased bone mineral density, Abnormality of the medull... OMIM:127000
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Sparse bone trabeculae, Tibial bowing, Increased susceptibility to fractures, Osteoma... ORPHA:289157
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Joint stiffness, Short metaca... OMIM:608940
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormality of epiphysis morphology, Craniofacial osteosclerosis, Anemia, Abnormal sacroiliac joi... ORPHA:324964
Pachydermoperiostosis
Genu varum, Abnormality of epiphysis morphology, Arthritis, Limitation of joint mobility, Splenom... ORPHA:2796
Blomstrand Lethal Chondrodysplasia
Bowing of the long bones, Increased bone mineral density, Abnormality of epiphysis morphology, Sh... ORPHA:50945
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Bowing of the long bones, Carpal synostosis, Increased bone mineral d... ORPHA:90652
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger sy... ORPHA:2658
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Orthostatic hypotension, Neurogenic bladder OMIM:263570
Stüve-Wiedemann Syndrome
Bowing of the long bones, Osteopenia, Flexion contracture, Recurrent fractures, Elbow flexion con... ORPHA:3206
Poems Syndrome
Sclerosis of foot bone, Metaphyseal sclerosis, Thrombocytosis, Sclerosis of hand bone, Sclerosis ... ORPHA:2905
Fibrous Dysplasia Of Bone
Bowing of the long bones, Cortical irregularity, Abnormality of the ulna, Abnormal pelvis bone mo... ORPHA:249
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Splenomegaly, Increased susceptibility to fractures... ORPHA:77261
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Osteopenia, Recurrent fractures, Multiple prenatal fractures, S... OMIM:610915
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:205100
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Absent ossification of capital femoral epiphysis, Flexion contracture, Joint stiffness, Tibial bo... OMIM:245160
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Subperiosteal bone formation OMIM:609993
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Osteopenia, Short femoral neck, Short metacarpal, Proximal femoral epiphysiolys... OMIM:616723
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Increased susceptibility to fractures, Femoral bowing present at birth, stra... OMIM:166220
Stuve-Wiedemann Syndrome 1
Bowing of the long bones, Contracture of the proximal interphalangeal joint of the 5th finger, Me... OMIM:601559
Cleidocranial Dysplasia
Brachydactyly, Increased bone mineral density, Short femoral neck, Cone-shaped epiphyses of the p... OMIM:119600
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Geroderma Osteodysplasticum
Osteopenia, Recurrent fractures, Tibial bowing, Osteoporosis, Increased susceptibility to fractur... OMIM:231070
Erdheim-Chester Disease
Increased bone mineral density, Abnormality of epiphysis morphology, Anemia, Osteomyelitis, Abnor... ORPHA:35687
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Osteopetrosis OMIM:618476
Pseudohypoparathyroidism Type 1C
Brachydactyly, Short 5th metacarpal, Increased bone mineral density, Short metacarpal, Broad dist... ORPHA:79444
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic iliac wing, Me... OMIM:223800
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Genu valgum,... ORPHA:457395
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology OMIM:613724
Pseudohypoparathyroidism Type 1A
Brachydactyly, Short 5th metacarpal, Increased bone mineral density, Short metacarpal, Broad dist... ORPHA:79443
Desmosterolosis
Increased bone mineral density, Splenomegaly, Metatarsus adductus, Micromelia, Osteopetrosis ORPHA:35107
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Short foot, Patchy osteosclerosis, Short palm, Small hand OMIM:241410
Otopalatodigital Syndrome, Type I
Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Hip dislocation, Syno... OMIM:311300
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Joint hypermobility, Femo... OMIM:166200
Early-Onset Schizophrenia
Suicidal ideation, Unhappy demeanor, Anxiety, Anhedonia, Emotional lability, Irritability, Abnorm... ORPHA:96369
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Anemia, Osteopetrosis OMIM:612301
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Osteopoikilosis, Abnormality of the spleen ORPHA:94063
Primary Lateral Sclerosis
Atrophy of the spinal cord, Abnormal upper motor neuron morphology, Cervical spinal cord atrophy ORPHA:35689
Schwartz-Jampel Syndrome
Bowing of the long bones, Coxa valga, Increased bone mineral density, Abnormality of epiphysis mo... ORPHA:800
Raine Syndrome
Bowing of the long bones, Brachydactyly, Increased bone mineral density, Micromelia, Long hallux,... OMIM:259775
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Cartilage-Hair Hypoplasia
Abnormality of pelvic girdle bone morphology, Short palm, Congenital hypoplastic anemia, Impaired... OMIM:250250
Gaucher Disease
Pancytopenia, Osteopenia, Increased bone mineral density, Joint stiffness, Recurrent fractures, A... ORPHA:355
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Clinodactyly of the 5th finger, Aplastic clavicle, Increased susceptibility ... ORPHA:2769
Otopalatodigital Syndrome, Type Ii
Short thumb, Bulbous tips of toes, Irregular metacarpals, Sclerosis of skull base, Broad hallux, ... OMIM:304120
Sclerosteosis 1
Abnormality of pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular ... OMIM:269500
Dent Disease
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... ORPHA:1652
Trichothiodystrophy
Clubbing, Craniosynostosis, Osteopenia, Increased bone mineral density, Multiple joint contractur... ORPHA:33364
Complex Regional Pain Syndrome
Dysesthesia, Trophic changes related to pain, Somatic sensory dysfunction, Allodynia ORPHA:83452
Anauxetic Dysplasia 3
Brachydactyly, Broad middle phalanx of finger, Trident hand, Short metacarpal, Squared iliac bone... OMIM:618853
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Craniosynostosis, Recurrent fractures, Abnormality of epiphysis morphol... ORPHA:667
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Tracheomalacia, Recurrent fractures, Fibular... ORPHA:140
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Trigeminal Neuralgia
Paresthesia, Episodic paroxysmal anxiety, Somatic sensory dysfunction, Allodynia ORPHA:221091
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Van Den Ende-Gupta Syndrome
Craniosynostosis, Elbow flexion contracture, Dislocated radial head, Slender metacarpals, Distal ... OMIM:600920
Desmosterolosis
Bilateral talipes equinovarus, Rhizomelia, Generalized osteosclerosis, Arthrogryposis multiplex c... OMIM:602398
Werner Syndrome
Joint stiffness, Increased bone mineral density, Rocker bottom foot, Osteoporosis, Small hand ORPHA:902
Kyphomelic Dysplasia
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micromelia, Ulnar bowing, Flared metaph... OMIM:211350
Oculodentodigital Dysplasia
Cranial hyperostosis, Clinodactyly, Brachydactyly, Toe syndactyly, Finger syndactyly, Clinodactyl... ORPHA:2710
Sanjad-Sakati Syndrome
Short foot, Patchy osteosclerosis, Small hand ORPHA:2323
Antley-Bixler Syndrome
Craniosynostosis, Joint stiffness, Recurrent fractures, Arachnodactyly, Narrow pelvis bone, Campt... ORPHA:83
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micromelia, Dumbbell-shaped long bone, Metaphyse... ORPHA:440354
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Osteogenesis Imperfecta
Fractures of the long bones, Abnormal hip bone morphology, Osteoporosis, Decreased skull ossifica... ORPHA:666
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Flexion contracture, Coronal craniosynostosis, Rocker bottom foot, U... OMIM:207410
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Brachydactyly, Joint stiffness, Short greater sciatic notch, Femoral bo... ORPHA:1860
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Recurrent fractures, Osteoporosis, Thin bony cortex, Long hallux, Long fingers, Hyperextensibilit... OMIM:309583
Frank-Ter Haar Syndrome
Bilateral talipes equinovarus, Cortical irregularity, Bowing of the long bones, Osteopenia, Short... OMIM:249420
Faciocardiomelic Syndrome
Osteopenia, Polydactyly, Thin bony cortex, Hypoplastic pelvis, Slender long bone OMIM:612731
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Pyknoachondrogenesis
Abnormal intramembranous ossification, Hypoplastic ischia, Short long bone, Aplastic pubic bones,... ORPHA:3003
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology ORPHA:52430
Weill-Marchesani Syndrome 1
Brachydactyly, Joint stiffness, Thin bony cortex, Broad metacarpals, Broad phalanges of the hand,... OMIM:277600
Craniotubular Dysplasia, Ikegawa Type
Short palm, Broad femoral neck, Broad ischia, Sclerosis of skull base, Thin bony cortex, Metaphys... OMIM:619727
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Thickened cortex of long bones, Wide distal femoral metaphysis, Increased density ... OMIM:269150
Weill-Marchesani Syndrome 2
Brachydactyly, Joint stiffness, Short metacarpal, Thin bony cortex, Broad metacarpals, Flexion co... OMIM:608328
Atypical Werner Syndrome
Increased bone mineral density, Short palm, Rocker bottom foot, Sclerosis of hand bone, Osteoporo... ORPHA:79474
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Absent tibia, Metaphy... OMIM:613091
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Recurrent fractures, Anemia, Osteopetrosis, Elliptocytosis, Thrombocyto... ORPHA:2785
Campomelic Dysplasia
Absent sternal ossification, Narrow iliac wing, Tracheomalacia, Fibular hypoplasia, Poorly ossifi... OMIM:114290
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the u... OMIM:276820
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Osteopenia, Joint laxity, Thin bony cortex, Anemia, Reduced bone mineral density, R... OMIM:613658
Williams Syndrome
Abnormality of pelvic girdle bone morphology, Osteopenia, Increased bone mineral density, Joint s... ORPHA:904
Gaisböck Syndrome
Increased hematocrit, Increased mean corpuscular hemoglobin concentration, Increased red blood ce... ORPHA:90041
Aspartylglucosaminuria
Abnormality of the ulna, Joint stiffness, Arthritis, Splenomegaly, Abnormal cortical bone morphology ORPHA:93
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia ORPHA:85165
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit 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
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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