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Gene: Ttl MGI:1916987

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Gene Summary

Name:
tubulin tyrosine ligase
Synonyms:
2410003M22Rik,  2700049H19Rik

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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
preweaning lethality, complete penetrance Ttltm1b(EUCOMM)Wtsi HOM   Early adult 0.00
edema Ttltm1b(EUCOMM)Wtsi HOM E15.5 0.00
decreased exploration in new environment Ttltm1b(EUCOMM)Wtsi HET Early adult 1.69×10-05

Download data as:  TSV  XLS

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

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
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system 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)

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)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Human diseases caused by Ttl 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 Ttl by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipedema
Edema OMIM:614103
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 2
Lymphedema OMIM:611944
Angioedema, Hereditary, 5
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619361
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Lymphatic Malformation 3
Lymphedema OMIM:613480
White Sponge Nevus 2
Edema OMIM:615785
Lymphatic Malformation 10
Lymphedema OMIM:619369
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Facial edema, Pulmonary edema, L... OMIM:617300
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Lymphangiectasia, Pulmonary, Congenital
Nonimmune hydrops fetalis, Chylous ascites, Edema, Polyhydramnios, Facial edema, Palpebral edema,... OMIM:265300
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Death in infancy, Apnea,... OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Dyspnea, Cough, Paraseptal emphysema, Hypoxemia, Death in infancy,... OMIM:610921

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 Ttl

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 Ttl.

There are 14 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Tubulin polyglutamylation differentially regulates microtubule-interacting proteins. The EMBO journal (January 2023) Ttll12tm1a(EUCOMM)Wtsi PMC9975938
TTLL1 and TTLL4 polyglutamylases are required for the neurodegenerative phenotypes in pcd mice. PLoS genetics (April 2022) Ttll4tm1a(EUCOMM)Wtsi PMC9022812
Distinct roles of α- and β-tubulin polyglutamylation in controlling axonal transport and in neurodegeneration. The EMBO journal (July 2021) Ttll12tm1a(EUCOMM)Wtsi PMC8408597
Tubulin glycylation controls axonemal dynein activity, flagellar beat, and male fertility. Science (New York, N.Y.) (January 2021) Ttll8tm1a(EUCOMM)Wtsi PMC7612590
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ttll10tm1b(EUCOMM)Hmgu Ttll11tm1a(EUCOMM)Wtsi PMC7263671
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells (April 2020) Ttll3tm1d(EUCOMM)Wtsi 32290105
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ttll10tm1b(EUCOMM)Hmgu Ttll11tm1a(EUCOMM)Wtsi Ttll3tm1a(EUCOMM)Wtsi Ttll4tm1a(EUCOMM)Wtsi_H PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ttll3tm1a(EUCOMM)Wtsi Ttll4tm1a(EUCOMM)Wtsi/H Ttll11tm1a(EUCOMM)Wtsi PMC6459510
Excessive tubulin polyglutamylation causes neurodegeneration and perturbs neuronal transport. The EMBO journal (November 2018) Ttll1tm1a(EUCOMM)Wtsi 30420556
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Ttll11tm1a(EUCOMM)Wtsi PMC5827107
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Ttll10em1J PMC5503261
Alterations in the balance of tubulin glycylation and glutamylation in photoreceptors leads to retinal degeneration. Journal of cell science (January 2017) Ttll3tm1a(EUCOMM)Wtsi 28104815
Tubulin glycylases are required for primary cilia, control of cell proliferation and tumor development in colon. The EMBO journal (September 2014) Ttll3tm1a(EUCOMM)Wtsi PMC4282510
Tubulin glycylases and glutamylases have distinct functions in stabilization and motility of ependymal cilia. The Journal of cell biology (July 2013) Ttll3tm1a(EUCOMM)Wtsi PMC3734080

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ttltm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ttltm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Ttltm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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