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Gene: C1galt1c1 MGI:1913493

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
C1GALT1-specific chaperone 1
Synonyms:
Cosmc,  1500002I11Rik,  C81205

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by C1galt1c1 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 C1galt1c1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Disproportionate short stature OMIM:301110
Tn Polyagglutination Syndrome
OMIM:300622

The table below shows human diseases predicted to be associated to C1galt1c1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage ORPHA:49566
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Internal hemorrhage, P... ORPHA:90308
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... ORPHA:99827
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H... ORPHA:340
Hellp Syndrome
Hypotension, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage ORPHA:244242
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Exces... ORPHA:99826
Superficial Siderosis
Subarachnoid hemorrhage, Persistent bleeding after trauma, Abnormal bleeding, Internal hemorrhage ORPHA:247245
Yellow Fever
Abnormal bleeding, Shock, Reduced left ventricular ejection fraction, Excessive bleeding after a ... ORPHA:99829
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Bruising susceptibility, Umbilical hernia, Transient ischemic attack, Telangie... ORPHA:286
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Disproportionate short stature OMIM:301110
Tn Polyagglutination Syndrome
OMIM:300622

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 C1galt1c1

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 C1galt1c1.

No publications found that use IMPC mice or data for C1galt1c1.

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
C1galt1c1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
C1galt1c1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
C1galt1c1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
C1galt1c1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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