Gene Summary

Name:
FK506 binding protein 10
Synonyms:
65kDa,  Fkbp6,  Fkbp1-rs,  FKBP65,  Fkbp-rs1

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Fkbp10tm2a(EUCOMM)Wtsi HET   Early adult 6.67×10-05
abnormal bone mineralization Fkbp10tm2a(EUCOMM)Wtsi HET Early adult 9.86×10-05
abnormal tail movements Fkbp10tm2a(EUCOMM)Wtsi HET   Early adult 8.33×10-05
increased startle reflex Fkbp10tm2a(EUCOMM)Wtsi HET Early adult 4.13×10-15

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

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 Fkbp10 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 Fkbp10 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Fkbp10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Osteopenia, Short metacarpal, Tibial bowing, Decreased skull os... OMIM:610915
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Distal Trisomy 14Q
Abnormal aortic morphology, Short stature, Patent ductus arteriosus ORPHA:1705
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Hypophosphatasia, Adult
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Ri... OMIM:146300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Sparse bone trabeculae, Generalized bone demineralization, Thin bony cortex, Delayed epiphyseal o... OMIM:600785
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
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Thoracic aortic aneurysm, Patent ductus arteriosus, Descendin... OMIM:132900
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... ORPHA:229
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Hypophosphatemic Rickets, X-Linked Recessive
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Osteomalacia, Thin bony co... OMIM:300554
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hypercholanemia, Familial 1
Rickets OMIM:607748
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, R... OMIM:600081
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Abnormal bone structure, Osteomalacia, Bone cyst, Osteolysis, Coarse metaphy... ORPHA:93160
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormal bone structure, Generalized osteosclerosis, Short stature, Abnormality... ORPHA:1306
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Aorto-ventricular tunnel, Abnormal coronary artery morphology, Aortic... ORPHA:3400
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Thin bony cortex, Delayed ... OMIM:241530
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Pathologic fracture, Hypophosphatemic rickets, Osteomalacia ORPHA:157215
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Exaggerated startle response OMIM:618201
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Wilson Disease
Dystonia, Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility, Tremor OMIM:277900
Dent Disease 1
Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal o... OMIM:300009
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint stiffness, Osteoporosis, Osteomalacia, Joint hyperflexibility, Rickets ORPHA:1901
Infantile Systemic Hyalinosis
Joint stiffness, Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fract... ORPHA:2176
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, R... OMIM:264700
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets OMIM:211600
Hypocalcemic Vitamin D-Dependent Rickets
Sparse bone trabeculae, Increased susceptibility to fractures, Osteomalacia, Thin bony cortex, De... ORPHA:289157
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Vitamin D-Dependent Rickets, Type 2A
Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, R... OMIM:277440
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Methimazole Embryofetopathy
Abnormal aortic morphology, Intrauterine growth retardation, Coarctation of aorta ORPHA:1923
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Osteomalacia OMIM:307800
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Increased bone mineral density, Abnormal trabecular bone morp... ORPHA:289176
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Exaggerated startle response OMIM:609541
Fibrous Dysplasia Of Bone
Cortical irregularity, Fibrous dysplasia of the bones, Abnormal bone structure, Osteomalacia, Thi... ORPHA:249
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Patent ductus arteriosus, Tapered finger, G... ORPHA:251071
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Exaggerated startle response ORPHA:320406
Glycine Encephalopathy With Normal Serum Glycine
Flexion contracture, Joint laxity, Hip contracture, Arthrogryposis multiplex congenita, Exaggerat... OMIM:617301
Neu-Laxova Syndrome
Opisthotonus, Flexion contracture, Osteopenia, Osteoporosis, Osteomalacia, Arthrogryposis multipl... ORPHA:2671
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Cystinosis
Rickets ORPHA:213
Mccune-Albright Syndrome
Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Osteomalacia,... ORPHA:562
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
X-Linked Hypophosphatemia
Craniosynostosis, Arthritis, Limitation of joint mobility, Vertebral hyperostosis, Enthesitis, Ge... ORPHA:89936
Dent Disease
Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal o... ORPHA:1652
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Fanconi-Bickel Syndrome
Osteopenia, Rickets ORPHA:2088
Hypophosphatemic Rickets
Joint stiffness, Fibrous dysplasia of the bones, Craniofacial osteosclerosis, Osteomalacia, Patch... ORPHA:437
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Rickets, Osteomalacia ORPHA:309031
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Fanconi-Bickel Syndrome
Osteomalacia OMIM:227810
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets OMIM:212750
Tay-Sachs Disease
Dystonia, Limited knee extension, Limited elbow extension, Laryngeal dystonia, Exaggerated startl... ORPHA:845
Distal Renal Tubular Acidosis
Reduced bone mineral density, Increased susceptibility to fractures, Rickets, Osteomalacia ORPHA:18
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Dystonia, Hyperextensibility of the finger joints, Exaggerated ... ORPHA:521426
Occipital Horn Syndrome
Osteopenia, Osteoporosis, Osteomalacia, Synostosis of joints, Osteolysis, Joint hyperflexibility,... ORPHA:198
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Pagod Syndrome
Pulmonary artery hypoplasia, Short stature, Spina bifida, Abnormality of the pulmonary artery, Ab... ORPHA:991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Flexion contracture, Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response OMIM:617527
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Thin bony cortex, Reduced bone mineral density, Rickets OMIM:613658
Lowe Oculocerebrorenal Syndrome
Joint hypermobility, Osteomalacia, Pathologic fracture, Camptodactyly of finger, Rickets, Joint c... OMIM:309000
Sandhoff Disease
Exaggerated startle response OMIM:268800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Osteoporosis, Osteomalacia, Abnormally ossified vertebrae, Rickets ORPHA:2636
Cardiac Diverticulum
Tetralogy of Fallot, Patent ductus arteriosus, Pulmonary artery hypoplasia, Partial anomalous pul... ORPHA:1686
Oculocerebrorenal Syndrome Of Lowe
Joint stiffness, Recurrent fractures, Osteomalacia, Joint hyperflexibility, Arthritis ORPHA:534
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia ORPHA:3337
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Multisystemic Smooth Muscle Dysfunction Syndrome
Thoracic aortic aneurysm, Patent ductus arteriosus, Dilatation of the cerebral artery, Abnormal a... OMIM:613834
Bruck Syndrome 1
Joint laxity, Increased susceptibility to fractures, Osteoporosis, Ankle flexion contracture, Kne... OMIM:259450
Cystinosis, Nephropathic
Hypophosphatemic rickets, Rickets OMIM:219800
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Dystonia, Joint laxity, Osteoporosis, Exaggerated startle response ORPHA:438213
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Fused cervical vertebrae, O... ORPHA:51608
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Arthritis, Osteomalacia OMIM:619381
Bruck Syndrome
Osteoporosis, Joint stiffness, Recurrent fractures, Arthrogryposis multiplex congenita ORPHA:2771
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Joint hypermobility, Exaggerated startle response OMIM:619522
Osteogenesis Imperfecta, Type Xi
Joint laxity, Increased susceptibility to fractures, Osteopenia OMIM:610968
Kuskokwim Syndrome
Joint stiffness ORPHA:1149

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 Fkbp10

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 Fkbp10.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
FKBP10 Regulates Protein Translation to Sustain Lung Cancer Growth. Cell reports (March 2020) Fkbp10tm2a(EUCOMM)Wtsi 32187554
FKBP65-dependent peptidyl-prolyl isomerase activity potentiates the lysyl hydroxylase 2-driven collagen cross-link switch. Scientific reports (April 2017) Fkbp10tm2a(EUCOMM)Wtsi PMC5380960
Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (March 2017) Fkbp10tm2a(EUCOMM)Wtsi PMC5466482
Connective tissue alterations in Fkbp10-/- mice. Human molecular genetics (April 2014) Fkbp10tm2a(EUCOMM)Wtsi PMC4140464

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MGI Allele Allele Type Produced
Fkbp10tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Fkbp10tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Fkbp10tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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