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Gene: Tpk1 MGI:1352500

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Gene Summary

Name:
thiamine pyrophosphokinase
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
preweaning lethality, complete penetrance Tpk1em1(IMPC)J HOM   Early adult 0.00
cataract Tpk1em1(IMPC)J HET Early adult 6.05×10-06
embryonic lethality prior to organogenesis Tpk1em1(IMPC)J HOM   E9.5 0.00

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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 Forepaw

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Tpk1 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 Tpk1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
OMIM:614458

The table below shows human diseases predicted to be associated to Tpk1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 45
Developmental cataract OMIM:616851
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Trichomegaly
Cataract OMIM:190330
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 7
Developmental cataract OMIM:115660
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Galactosemia Iv
Cataract OMIM:618881
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cataract 10, Multiple Types
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 1, Multiple Types
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract OMIM:116200
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Cataract 3, Multiple Types
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract OMIM:601547
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Cataract 41
Nuclear cataract OMIM:116400
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Proximal Myotonic Myopathy
Cataract ORPHA:606
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Galactosemia Ii
Cataract OMIM:230200
X-Linked Retinoschisis
Cataract ORPHA:792
Dermoids Of Cornea
Corneal opacity OMIM:304730
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Cataract 20, Multiple Types
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract OMIM:116100
Cataract 39, Multiple Types
Developmental cataract, Anterior polar cataract, Lamellar cataract OMIM:615188
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 9, Multiple Types
Cataract, Iris coloboma, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Cataract 31, Multiple Types
Nuclear cataract, Anterior subcapsular cataract, Posterior subcapsular cataract OMIM:605387
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Cataract 15, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:615274
Cataract 33, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:611391
Nathalie Syndrome
Cataract OMIM:255990
Cataract 17, Multiple Types
Developmental cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:611544
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... OMIM:225200
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Anterior Segment Dysgenesis 1
Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula... OMIM:107250
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cataract 2, Multiple Types
Nuclear pulverulent cataract, Aculeiform cataract, Developmental cataract, Nuclear cataract, Micr... OMIM:604307
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Microcornea, Pe... OMIM:610202
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Cataract 24
Anterior polar cataract OMIM:601202
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris ORPHA:1067
Aniridia 3
Cataract, Aniridia OMIM:617142
Retinitis Pigmentosa 40
Cataract OMIM:613801
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Pellagra-Like Syndrome
Cataract OMIM:260650
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Edict Syndrome
Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea OMIM:614303
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy ORPHA:293621
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Autosomal Dominant Keratitis
Cataract, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal corneal limbus morpholog... ORPHA:2334
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract, Lenticonus OMIM:613763
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Cataract 48
Cataract OMIM:618415
Congenital Varicella Syndrome
Cataract ORPHA:291
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma OMIM:616722
Cahmr Syndrome
Lamellar cataract OMIM:211770
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Norrie Disease
Cataract, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corneal opacity, Opacifi... OMIM:310600
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Iris coloboma, Buphthalmos OMIM:212550
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Po... OMIM:221900
Aniridia 1
Cataract, Ectopia pupillae, Ectopia lentis, Corneal erosion, Anterior subcapsular cataract, Hypop... OMIM:106210
Persistent Hyperplastic Primary Vitreous
Cataract, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Corneal opacity, ... ORPHA:91495
Oculoauricular Syndrome
Cataract, Iris cyst, Iris coloboma, Microphakia, Posterior synechiae of the anterior chamber, Scl... OMIM:612109
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
OMIM:614458

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 Tpk1

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 Tpk1.

No publications found that use IMPC mice or data for Tpk1.

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MGI Allele Allele Type Produced
Tpk1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tpk1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tpk1em1(IMPC)J Exon Deletion Mice

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