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Gene: Tbc1d16 MGI:2652878

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Gene Summary

Name:
TBC1 domain family, member 16
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral content Tbc1d16em1(IMPC)J HOM Early adult 7.28×10-05
decreased bone mineral density Tbc1d16em1(IMPC)J HOM Early adult 1.04×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Tbc1d16 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 Tbc1d16 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Osteoporosis
Osteoporosis OMIM:166710
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Generalized osteoporosis OMIM:601220

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 Tbc1d16

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 Tbc1d16.

No publications found that use IMPC mice or data for Tbc1d16.

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MGI Allele Allele Type Produced
Tbc1d16tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tbc1d16tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tbc1d16tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tbc1d16em1(IMPC)J Exon Deletion Mice
Tbc1d16tm159(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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