Gene Summary

Name:
F-box protein 30
Synonyms:
1700026A16Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Fbxo30tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased startle reflex Fbxo30tm1b(KOMP)Wtsi HET Early adult 1.54×10-05
increased prepulse inhibition Fbxo30tm1b(KOMP)Wtsi HET   Early adult 3.34×10-05
increased bone mineral density Fbxo30tm1b(KOMP)Wtsi HET Early adult 5.41×10-05
hyperactivity Fbxo30tm1b(KOMP)Wtsi HET Early adult 7.90×10-05
increased bone mineral content Fbxo30tm1b(KOMP)Wtsi HET Early adult 4.86×10-05
improved glucose tolerance Fbxo30tm1b(KOMP)Wtsi HET Early adult 6.60×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

45 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Forepaw

9 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Fbxo30 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fbxo30 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Diabetes mellitus, Ectopic ossification OMIM:602475
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Ataxia, Increased bone mineral density,... OMIM:136300
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Arthritis, Joint stiffness, Difficulty walking, Thickened cortex of bones ORPHA:564003
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... ORPHA:166119
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Immunodeficiency 8
Hyperactivity OMIM:615401
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Osteopenia OMIM:608747
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Melorheostosis
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... ORPHA:2485
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Osteoporosis, Impaired glucose tolerance, Gout, Diabetes mellitus OMIM:610947
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Osteopenia OMIM:615363
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Hyperactivity, Ataxia OMIM:615924
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Osteogenesis Imperfecta, Type Xiii
Joint hypermobility, Osteoporosis, Increased bone mineral density OMIM:614856
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density OMIM:231095
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... ORPHA:1306
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Hyperactivity, Broad-based gait, Elbow flexion contracture OMIM:619470
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Ataxia OMIM:300983
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Osteomyelitis, Pathologic fracture, In... OMIM:259700
Diastrophic Dysplasia
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger ORPHA:628
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... ORPHA:93284
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... ORPHA:94089
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Recurrent fractur... ORPHA:53
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Dysosteosclerosis
Recurrent fractures, Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphysea... ORPHA:1782
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Hyperactivity, Ataxia OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Stiff Person Spectrum Disorder
Exaggerated startle response, Difficulty walking, Falls, Diabetes mellitus ORPHA:3198
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Osteopetrosis, Autosomal Recessive 2
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... OMIM:259710
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Recurrent fractures, Osteoporosis, Increased bone mineral density OMIM:239000
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Tremor, Hyperactivity, Ataxia, Gait ataxia, Hyperinsulinemia, Limb dystonia ORPHA:363400
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Autoimmune Hypoparathyroidism
Increased bone mineral density, Laryngeal dystonia ORPHA:36913
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip contracture, Knee flexion contracture, Osteopenia, Hyperactivity, Flexion contracture, Elbow ... OMIM:616809
Ck Syndrome
Joint hypermobility, Hyperactivity, Abnormal cortical bone morphology OMIM:300831
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Morm Syndrome
Hyperactivity ORPHA:75858
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Waddling gait, Increased bone m... OMIM:131300
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Osteopenia, Pa... OMIM:112250
Majeed Syndrome
Synovitis, Increased susceptibility to fractures, Osteomyelitis, Increased bone mineral density, ... ORPHA:77297
12Q14 Microdeletion Syndrome
Tremor, Osteopoikilosis, Diabetes mellitus ORPHA:94063
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Tremor, Hyperactivity, Resting tremor, Broad-based gait ORPHA:3077
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecular... ORPHA:2780
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Joint contracture of the hand, Hyperactivity, Attention defic... ORPHA:352490
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Gaucher Disease Type 1
Osteopenia, Pathologic fracture, Increased bone mineral density, Osteoarthritis, Osteolysis ORPHA:77259
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Hyperactivity, Inability to walk OMIM:618718
Dysosteosclerosis
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... OMIM:224300
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Osteoporosis, Hyperactivity, Attention deficit hyperactivity di... ORPHA:73272
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Werner Syndrome
Type II diabetes mellitus, Insulin resistance, Osteoporosis, Increased bone mineral density, Join... ORPHA:902
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Cln5 Disease
Dysmetria, Tremor, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, ... ORPHA:228360
Pycnodysostosis
Generalized osteosclerosis, Increased susceptibility to fractures, Osteolytic defects of the dist... ORPHA:763
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Diabetes mellitus, Sclerosis of hand bone ORPHA:2905
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Joint laxity ORPHA:457260
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, Fatiguable weakness of proximal limb muscles, Cong... ORPHA:166108
Coffin-Siris Syndrome 7
Hyperactivity, Sagittal craniosynostosis OMIM:618027
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Hyperactivity, Dense calvaria OMIM:252900
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Osteopetrosis OMIM:618476
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Trichothiodystrophy
Craniosynostosis, Osteopenia, Intention tremor, Increased bone mineral density, Multiple joint co... ORPHA:33364
Gaucher Disease
Abnormal bone structure, Arthrogryposis multiplex congenita, Osteopenia, Tremor, Ataxia, Osteomye... ORPHA:355
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Schwartz-Jampel Syndrome
Gait disturbance, Shoulder flexion contracture, Flexion contracture of toe, Hip contracture, Oste... ORPHA:800
Gaucher Disease Type 3
Gait disturbance, Increased susceptibility to fractures, Ataxia, Increased bone mineral density, ... ORPHA:77261
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Difficulty walking, Exaggerated startle response ORPHA:320406
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Desmosterolosis
Osteopetrosis, Increased bone mineral density ORPHA:35107
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture OMIM:618201
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Hyperactivity, Dense calvaria OMIM:252920
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Hyperactivity, Gait ataxia, Joint laxity OMIM:300354
Intellectual Developmental Disorder, X-Linked 21
Joint hypermobility, Hyperactivity OMIM:300143
Fragile X Syndrome
Hyperactivity, Joint laxity OMIM:300624
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Carpal... ORPHA:90652
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Limb dystonia, Oculogyric cris... OMIM:608643
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... ORPHA:89936
Myoclonic-Astatic Epilepsy
Tremor, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder ORPHA:1942
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral density... ORPHA:2658
Erdheim-Chester Disease
Ataxia, Osteolysis, Increased bone mineral density, Osteomyelitis ORPHA:35687
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Hyperactivity, Ataxia, Difficulty walking, Joint laxity OMIM:615673
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus OMIM:614613
Atypical Werner Syndrome
Type II diabetes mellitus, Insulin-resistant diabetes mellitus, Hyperglycemia, Osteoporosis, Glyc... ORPHA:79474
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Reduced bone mineral density, Laryngeal dystonia, Hyperostosis frontalis in... ORPHA:79443
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density OMIM:259775
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Diabetes mellitus OMIM:184850
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Ectopic ossification, Laryngeal dystonia ORPHA:79444
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Hyperactivity, Dense calvaria OMIM:252930
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Hyperactivity, Ataxia, Joint hyperflexibility ORPHA:52503
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Flexion contracture, Unsteady gait ORPHA:35069
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Limitation of movement at ankles, Tremor, Hyperactivity, Ataxia, Broad-based gait ORPHA:98794
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Fused cervical vertebrae ORPHA:530983
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Arthrogryposis multiplex congenita, Exaggerated startle response, Flexion contra... OMIM:617301
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis OMIM:259720
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Craniosynostosis, Ataxia OMIM:601853
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Tay-Sachs Disease
Gait disturbance, Dystonia, Dysmetria, Limited knee extension, Exaggerated startle response, Lary... ORPHA:845
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Attention deficit hyperactivity disorder, Diabetes mellitus, Joint laxity ORPHA:449291
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Cleidocranial Dysplasia
Increased susceptibility to fractures, Delayed pubic bone ossification, Increased bone mineral de... OMIM:119600
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Williams Syndrome
Gait disturbance, Type II diabetes mellitus, Gait imbalance, Dysmetria, Joint laxity, Osteoporosi... ORPHA:904
Adenylosuccinase Deficiency
Hyperactivity, Inability to walk, Gait ataxia, Opisthotonus OMIM:103050
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Cortically dense long tubular... OMIM:269500
Angelman Syndrome
Hyperactivity, Limb tremor, Progressive gait ataxia, Broad-based gait OMIM:105830
Pediatric-Onset Graves Disease
Tremor, Hyperactivity, Craniosynostosis ORPHA:525731
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hamstring contractures, Hyperactivity, Inability to walk, Ataxia, Di... ORPHA:139396
X-Linked Intellectual Disability, Cabezas Type
Tremor, Hyperactivity, Broad-based gait, Camptodactyly of finger, Joint hyperflexibility ORPHA:85293
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Craniosynostosis, Reduced bone mineral density, Tremor, Recurrent fractures ORPHA:667
Mucopolysaccharidosis, Type Iiid
Joint stiffness, Hyperactivity, Flexion contracture OMIM:252940
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Hyperlysinemia
Opisthotonus, Dysmetria, Craniosynostosis, Tremor, Hyperactivity, Tip-toe gait ORPHA:2203
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Contractures of the large joints, Exaggerated startle response, Hyperextensibility of t... ORPHA:521426
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Bone Marrow Failure Syndrome 3
Joint hypermobility, Hyperactivity, Reduced bone mineral density OMIM:617052
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Sandhoff Disease
Ataxia, Exaggerated startle response OMIM:268800
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Mucopolysaccharidosis Type 3
Gait disturbance, Loss of ambulation, Increased susceptibility to fractures, Reduced bone mineral... ORPHA:581
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dystonia, Bradykinesia, Tremor, Hyperactivity, Ataxia, Akinesia, Blepharospasm OMIM:234200
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Thickened cortex of long bones, Opisthotonus, Increased density of long ... OMIM:269150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture OMIM:253800
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Osteomyelitis OMIM:256800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response OMIM:617527
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis ORPHA:2785
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Histidinemia
Hyperactivity ORPHA:2157
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hyperactivity, Attention deficit hyperactivity disorder, Myelofibrosis, Joint laxity OMIM:607721
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder ORPHA:137605
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Osteoporosis, Exaggerated startle response, Osteopenia, Inability to walk, Broad-based ... ORPHA:438213
Choreoacanthocytosis
Head titubation, Lingual dystonia, Loss of ambulation, Oromandibular dystonia, Falls, Bradykinesi... ORPHA:2388
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756
Argininemia
Hyperactivity, Spastic gait OMIM:207800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Joint hypermobility, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:619522

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 Fbxo30

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 Fbxo30.

No publications found that use IMPC mice or data for Fbxo30.

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MGI Allele Allele Type Produced
Fbxo30tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Fbxo30tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Fbxo30tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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