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Gene: Ctps1 MGI:1858304

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Gene Summary

Name:
cytidine 5'-triphosphate synthase 1
Synonyms:
Ctps

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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
embryonic lethality prior to organogenesis Ctps1em1(IMPC)Tcp HOM   E9.5 0.00
enlarged lymph nodes Ctps1em1(IMPC)Tcp HET Early adult 0.00
enlarged urinary bladder Ctps1em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Ctps1em1(IMPC)Tcp HOM   Early adult 0.00
cataract Ctps1em1(IMPC)Tcp HET Early adult 1.83×10-05
abnormal skin morphology Ctps1em1(IMPC)Tcp HET Early adult 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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

96 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

107 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Human diseases caused by Ctps1 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 Ctps1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 24
OMIM:615897

The table below shows human diseases predicted to be associated to Ctps1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cataract 29
Cataract OMIM:115800
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 35
Cataract OMIM:609376
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Cataract 42
Cataract, Developmental cataract OMIM:115900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Trichomegaly
Cataract OMIM:190330
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Galactosemia Iv
Cataract OMIM:618881
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease OMIM:615995
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Galactose Epimerase Deficiency
Splenomegaly, Aminoaciduria, Cataract, Hepatomegaly ORPHA:79238
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma OMIM:120433
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Proximal Myotonic Myopathy
Cataract ORPHA:606
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias ORPHA:1381
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypopl... OMIM:602450
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Aniridia 3
Aniridia, Cataract OMIM:617142
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils, Hepatomegaly ORPHA:276
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Lymph node hypoplasia OMIM:613179
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Conjunctivitis OMIM:300755
Immunodeficiency 24
OMIM:615897

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 Ctps1

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 Ctps1.

No publications found that use IMPC mice or data for Ctps1.

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MGI Allele Allele Type Produced
Ctps1em1(IMPC)Tcp Exon Deletion Mice
Ctps1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ctps1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ctps1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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