Gene: Tonsl MGI:1919999

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Gene Summary

Name:
tonsoku-like, DNA repair protein
Synonyms:
2810439M11Rik,  Nfkbil2

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
preweaning lethality, complete penetrance Tonslem1(IMPC)Bay HOM   Early adult 0.00
abnormal retinal vasculature morphology Tonslem1(IMPC)Bay HET   Early adult 3.92×10-05
embryonic lethality prior to organogenesis Tonslem1(IMPC)Bay HOM   E9.5 0.00

Download data as:  TSV  XLS

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

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Forepaw

8 Images

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Sponastrime Dysplasia
Intrauterine growth retardation, Rhizomelia, Disproportionate short-limb short stature ORPHA:93357
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Disproportionate short-limb short stature OMIM:271510

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Retinal Detachment
Retinal detachment OMIM:180050
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Coloboma Of Macula
Macular coloboma OMIM:120300
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage, Patent ductus arterios... ORPHA:90308
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Tachycardia, Gingival bleeding, Abnormal umbilical stump ... ORPHA:335
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Shock, Prolonged prothrombin time ORPHA:49566
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Macular edema, Abnormal retinal vascular mo... ORPHA:247691
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Wiskott-Aldrich Syndrome
Arrhythmia, Prolonged bleeding time, Internal hemorrhage, Purpura, Intracranial hemorrhage, Hemat... ORPHA:906
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Prolonged prothrombin time, Internal hemorrhage ORPHA:244242
Superficial Siderosis
Persistent bleeding after trauma, Abnormal bleeding, Subarachnoid hemorrhage, Internal hemorrhage ORPHA:247245
Hepatocellular Carcinoma
Hypotension, Portal hypertension, Budd-Chiari syndrome, Internal hemorrhage ORPHA:88673
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Internal hemorrhage, Renovascular hypertension, Umbilical hernia, Telangiectas... ORPHA:286
Sponastrime Dysplasia
Intrauterine growth retardation, Rhizomelia, Disproportionate short-limb short stature ORPHA:93357
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Disproportionate short-limb short stature OMIM:271510

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 Tonsl

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 Tonsl.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. American Journal of Human Genetics (February 2019) Tonslem1(IMPC)Bay PMC6408318

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MGI Allele Allele Type Produced
Tonsltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tonslem1(IMPC)Bay Exon Deletion Mice, Tissue
Tonsltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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