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

Eye Morphology

Images Slit Lamp

96 Images

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Eye Morphology

Images Ophthalmoscopy

107 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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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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
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Hepatome... OMIM:602450
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Absent tonsils, Lymph node hypoplasia ORPHA:276
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Elevated urinary inosine level, Lymph node hypoplasia, Splenomegaly, Ele... OMIM:613179
Agammaglobulinemia, X-Linked
Lymph node hypoplasia 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.

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

Title Journal IMPC Allele PubMed ID
Inactivation of cytidine triphosphate synthase 1 prevents fatal auto-immunity in mice. Nature communications (March 2024) Ctps1tm1a(KOMP)Wtsi PMC10912214

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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
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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