Gene Summary

Name:
translocase of inner mitochondrial membrane 50
Synonyms:
TIM50L,  2810403L02Rik

IMPC Data Collections

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 bone mineral content Timm50tm1b(EUCOMM)Wtsi HET Early adult 5.64×10-08
increased bone mineral density Timm50tm1b(EUCOMM)Wtsi HET Early adult 1.05×10-07
increased circulating alanine transaminase level Timm50tm1b(EUCOMM)Wtsi HET Early adult 3.89×10-13
abnormal retina outer nuclear layer morphology Timm50tm1b(EUCOMM)Wtsi HET   Early adult 1.94×10-05
increased lean body mass Timm50tm1b(EUCOMM)Wtsi HET Early adult 8.47×10-07
decreased total body fat amount Timm50tm1b(EUCOMM)Wtsi HET Early adult 9.44×10-07
decreased body length Timm50tm1b(EUCOMM)Wtsi HET Early adult 1.88×10-06
embryonic lethality prior to tooth bud stage Timm50tm1b(EUCOMM)Wtsi HOM   E12.5 0.00
preweaning lethality, complete penetrance Timm50tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased total retina thickness Timm50tm1b(EUCOMM)Wtsi HET   Early adult 6.38×10-05

Download data as:  TSV  XLS

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lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (3 of 3)
Ear N/A heterozygote 100% (3 of 3)
Embryo N/A heterozygote 100% (3 of 3)
Eye N/A heterozygote 100% (3 of 3)
Footplate N/A heterozygote 100% (3 of 3)
Forebrain N/A heterozygote 100% (3 of 3)
Forelimb N/A heterozygote 100% (3 of 3)
Handplate N/A heterozygote 100% (3 of 3)
Head N/A heterozygote 100% (3 of 3)
Heart N/A heterozygote 100% (3 of 3)
Hindbrain N/A heterozygote 100% (3 of 3)
Hindlimb N/A heterozygote 100% (3 of 3)
Liver N/A heterozygote 100% (3 of 3)
Lung N/A heterozygote 100% (3 of 3)
Mandibular process N/A heterozygote 100% (3 of 3)
Maxillary process N/A heterozygote 100% (3 of 3)
Midbrain N/A heterozygote 100% (3 of 3)
Oral cavity N/A heterozygote 100% (3 of 3)
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (3 of 3)
Tail somite N/A heterozygote 100% (3 of 3)
Tail N/A heterozygote 100% (3 of 3)

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

Anatomy Background staining in controls (WT)

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 1.26% (6 of 477)
ear 0.21% (1 of 480)
embryo 0.42% (2 of 479)
eye 0.21% (1 of 480)
footplate 0.21% (1 of 480)
forebrain 0.21% (1 of 468)
forelimb 0.21% (1 of 468)
handplate 0.21% (1 of 475)
head 1.04% (5 of 479)
heart 0.21% (1 of 471)
hindbrain 1.27% (6 of 471)
hindlimb 0.21% (1 of 479)
liver 0.21% (1 of 474)
lung 0.22% (1 of 462)
mandibular process 0.21% (1 of 479)
maxillary process 0.21% (1 of 470)
midbrain 0.21% (1 of 471)
oral cavity 0.21% (1 of 470)
placenta 17.07% (7 of 41)
skin 0.0%
tail 0.21% (1 of 470)
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images section

2 Images

Echo

M-Mode Images

14 Images

Embryo LacZ

LacZ images wholemount

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Timm50 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 Timm50 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
3-Methylglutaconic Aciduria Type 9
Optic atrophy, Failure to thrive, Slender build ORPHA:505216
3-Methylglutaconic Aciduria, Type Ix
Optic atrophy, Failure to thrive OMIM:617698

The table below shows human diseases predicted to be associated to Timm50 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Buschke-Ollendorff Syndrome
Joint stiffness, Connective tissue nevi, Osteopoikilosis, Flexion contracture OMIM:166700
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Multiple lipomas, Osteopoikilosis ORPHA:1879
Van Buchem Disease
Optic atrophy from cranial nerve compression, Thickened cortex of long bones, Cranial hyperostosi... OMIM:239100
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Rod-cone dystrophy, Osteoporosis, Increased bone... OMIM:136300
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Increased bone mineral density, Craniosynostosis ORPHA:178377
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Melorheostosis
Failure to thrive, Joint stiffness, Increased bone mineral density, Arthritis, Atypical scarring ... ORPHA:2485
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Sclerosteosis
Optic atrophy, Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hy... ORPHA:3152
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Papilledema, Optic atrophy, Craniofacial osteosclerosis... OMIM:122860
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Paget Disease Of Bone 5, Juvenile-Onset
Failure to thrive, Recurrent fractures, Retinal degeneration, Increased bone mineral density, Ret... OMIM:239000
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Increased bone mineral density, Osteoporosis, Umbilical hernia, Joint hype... OMIM:614856
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia, Osteomyelitis, Increased bone mineral density, Craniosynostosis,... OMIM:259700
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Failure to thrive, Osteopetrosis OMIM:615085
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Dysosteosclerosis
Abnormal dental enamel morphology, Recurrent fractures, Increased bone mineral density, Optic atr... ORPHA:1782
Albers-Schönberg Osteopetrosis
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Osteoarthritis, Arthr... ORPHA:53
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Increased bone mineral density, Retinal detachment, Delayed patellar ... ORPHA:163649
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Enamel hypoplasia, Hypocalcem... ORPHA:94089
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Increased bone mineral density, Small for gestational age, Papilledema, Retinal cal... OMIM:127000
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Camurati-Engelmann Disease
Slender build, Reduced subcutaneous adipose tissue, Sclerosis of skull base, Cortical thickening ... OMIM:131300
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... ORPHA:90650
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... OMIM:259710
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Optic disc pallor, Recurrent fractures, Osteopetrosis OMIM:611490
Spondyloepiphyseal Dysplasia Tarda
Failure to thrive, Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Lim... ORPHA:93284
Diastrophic Dysplasia
Joint stiffness, Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density ORPHA:628
Werner Syndrome
Slender build, Joint stiffness, Abnormality of retinal pigmentation, Lipoatrophy, Increased bone ... ORPHA:902
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased bone mineral density, Flexion contracture, Cachexia, ... ORPHA:77297
Hyperoxaluria, Primary, Type I
Optic neuropathy, Increased bone mineral density, Retinopathy, Pathologic fracture, Optic atrophy... OMIM:259900
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones OMIM:167250
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Tricho-Dento-Osseous Syndrome
Enamel hypomineralization, Increased bone mineral density, Dental enamel pits ORPHA:3352
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Papilledema, Lipodystrophy, Weight loss, Scleros... ORPHA:2905
Dysosteosclerosis
Sclerosis of skull base, Osteopenia, Clavicular sclerosis, Optic atrophy, Sclerotic scapulae, Inc... OMIM:224300
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Increased bone mineral density, Decreased osteoclast count, Ost... OMIM:259720
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Hypocalcemia, Osteopetrosis OMIM:618476
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Pycnodysostosis
Increased bone mineral density, Coronal craniosynostosis, Enamel hypoplasia, Generalized osteoscl... ORPHA:763
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Trichothiodystrophy
Multiple joint contractures, Retinal degeneration, Macular degeneration, Craniosynostosis, Increa... ORPHA:33364
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Elevated circulating C-reactive protein conc... ORPHA:355
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Optic nerve compression, Diaphyseal sclerosis, Cranial hyperostosis OMIM:259730
Primary Hyperoxaluria
Failure to thrive, Recurrent fractures, Retinopathy, Optic atrophy, Optic disc pallor, Generalize... ORPHA:416
Gaucher Disease Type 1
Increased bone mineral density, Osteopenia, Osteoarthritis, Pathologic fracture, Osteolysis ORPHA:77259
X-Linked Hypophosphatemia
Hypophosphatemia, Cellulitis, Craniosynostosis, Reduced bone mineral density, Arthritis, Vertebra... ORPHA:89936
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... ORPHA:1798
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Increased bone mineral density, Ectopic ossification, Enamel hypoplasia, Hypocalcem... ORPHA:79444
Atypical Werner Syndrome
Failure to thrive, Abnormality of retinal pigmentation, Decreased body weight, Retinal degenerati... ORPHA:79474
Schwartz-Jampel Syndrome
Hip contracture, Joint stiffness, Decreased body weight, Increased bone mineral density, Inguinal... ORPHA:800
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Increased bone mineral density, Reduced bone mineral density, Ectopic ossification,... ORPHA:79443
Desmosterolosis
Osteopetrosis, Failure to thrive, Increased bone mineral density ORPHA:35107
Otopalatodigital Syndrome Type 2
Failure to thrive, Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmenta... ORPHA:90652
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Inguinal hernia, Elbow ankylosis, Osteopetrosis, Joint hyperflexi... ORPHA:2658
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology, Optic atrophy, Optic nerve compression, Hypoc... OMIM:612301
Desmosterolosis
Failure to thrive, Joint contracture of the hand, Generalized osteosclerosis, Abnormal circulatin... OMIM:602398
Raine Syndrome
Hypophosphatemia, Increased bone mineral density, Enamel hypoplasia, Arthrogryposis multiplex con... OMIM:259775
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia, Abnormal dental enamel morphology ORPHA:2323
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Recurrent fractures, Hypocalcemia, Osteopetrosis, Elevated circulating creatin... ORPHA:2785
Erdheim-Chester Disease
Osteomyelitis, Weight loss, Osteolysis, Increased bone mineral density ORPHA:35687
Sclerosteosis 1
Cortically dense long tubular bones, Papilledema, Optic atrophy, Facial palsy secondary to crania... OMIM:269500
Gaucher Disease Type 3
Osteolysis, Increased bone mineral density, Increased susceptibility to fractures ORPHA:77261
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Hypophosphatemia, Hypocalcemia, Craniosynostosis, Osteopetrosis, Reduced bon... ORPHA:667
Cleidocranial Dysplasia 1
Enamel hypoplasia, Delayed pubic bone ossification, Increased bone mineral density, Increased sus... OMIM:119600
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Williams Syndrome
Joint stiffness, Increased bone mineral density, Inguinal hernia, Abnormal circulating lipid conc... ORPHA:904
Schinzel-Giedion Midface Retraction Syndrome
Failure to thrive, Sclerosis of skull base, Thickened cortex of long bones, Increased density of ... OMIM:269150
3-Methylglutaconic Aciduria Type 9
Optic atrophy, Failure to thrive, Slender build ORPHA:505216
3-Methylglutaconic Aciduria, Type Ix
Optic atrophy, Failure to thrive OMIM:617698

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 Timm50

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 Timm50.

No publications found that use IMPC mice or data for Timm50.

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MGI Allele Allele Type Produced
Timm50tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Timm50tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Timm50tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Timm50tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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