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Gene: Pck2 MGI:1860456

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Gene Summary

Name:
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
Synonyms:
1810010O14Rik,  9130022B02Rik

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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
small epididymis Pck2em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Pck2em1(IMPC)Tcp HOM Early adult 0.00
increased circulating aspartate transaminase level Pck2em1(IMPC)Tcp HOM Early adult 6.55×10-05
enlarged lymph nodes Pck2em1(IMPC)Tcp HOM Early adult 0.00
abnormal stomach morphology Pck2em1(IMPC)Tcp HOM Early adult 0.00
decreased circulating triglyceride level Pck2em1(IMPC)Tcp HOM Early adult 2.81×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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 Ophthalmoscopy

102 Images

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Eye Morphology

Images Slit Lamp

60 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Pck2 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 Pck2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
OMIM:261650

The table below shows human diseases predicted to be associated to Pck2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Hepatocellular carcinoma, Splenomegaly, Gastric varix OMIM:613490
Serrated Polyposis Syndrome
Gastric diverticulum, Colorectal polyposis, Prostate cancer, Biliary tract neoplasm, Neoplasm of ... ORPHA:157798
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Pyloric stenosis, Abnormal intestine morphology ORPHA:2978
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hyperammonemia, Splenomegaly ORPHA:664
Burkitt Lymphoma
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Intestinal obstruction, ... ORPHA:543
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Testicular seminoma, Hypogonadism, Cryptorchidism ORPHA:281090
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Multiple gastric pol... ORPHA:2494
Intrinsic Factor Deficiency
Reduced haptoglobin level, Absence of intrinsic factor OMIM:261000
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Hepatoportal Sclerosis
Hypersplenism, Hyperbilirubinemia, Hepatocellular carcinoma, Gastrointestinal hemorrhage, Gastric... ORPHA:64743
Diethylstilbestrol Syndrome
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... ORPHA:1916
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... ORPHA:263665
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Pyloric stenosis, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Spo... ORPHA:1876
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Aplasia of th... OMIM:602450
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Hypok... OMIM:174900
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Cryptorchidism ORPHA:2617
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Elevated maternal serum alpha-fetoprotein, Congenital pyloric atresia, ... OMIM:226730
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Precocious puberty, High palate, Pyloric stenosis, Bifid uvula, Cryptorchid... ORPHA:96184
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, Bilateral cryptorchidism, High palate ORPHA:314575
Scleroderma
Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... ORPHA:801
Systemic Sclerosis
Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... ORPHA:90291
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Conjugated hyperbilirubinemia ORPHA:234
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Increased circulating guanosine concentration, Lymph... OMIM:613179
Microgastria-Limb Reduction Defect Syndrome
Gastroesophageal reflux, Esophageal atresia, Perineal fistula, Anal atresia, Tracheoesophageal fi... ORPHA:2538
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L... ORPHA:220460
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Chronic Granulomatous Disease
Malabsorption, Pyloric stenosis, Tracheoesophageal fistula, Mediastinal lymphadenopathy, Splenome... ORPHA:379
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Congenital Tracheal Stenosis
Morphological abnormality of the gastrointestinal tract, Abnormal stomach morphology, Anal atresi... ORPHA:141127
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Epididymitis, Hepatocellular carcinoma, Prostatitis OMIM:300755
Metachromatic Leukodystrophy
Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology, Neoplasm of the gallb... ORPHA:512
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Hardikar Syndrome
Cleft soft palate, Hypersplenism, Hyperbilirubinemia, Esophageal varix, Hepatosplenomegaly, Intes... OMIM:301068
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia, Abnormality of the urethra, Elevated circulating creatine kinase conc... ORPHA:158684
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hyperuricemia, Bicornuate uterus, Pyloric stenosis, Hypospadias, Absent vas deferens, Papillary c... ORPHA:93111
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia, Urethral stricture ORPHA:79403
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Atretic vas deferens, Bicornuate uterus, Epididymal cyst, Hypospadias, Elevated ci... OMIM:137920
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Williams Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Peptic ulcer, Precocious puberty, Co... ORPHA:904
Floating-Harbor Syndrome
Congenital posterior urethral valve, Epididymal cyst, Celiac disease, Hypospadias, Varicocele, Cr... OMIM:136140
Viss Syndrome
Gastroesophageal reflux, High palate, Cleft soft palate, Bifid tongue, Bifid uvula, Macroglossia,... OMIM:619472
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Floating-Harbor Syndrome
Gastroesophageal reflux, Precocious puberty, Congenital posterior urethral valve, Epididymal cyst... ORPHA:2044
Von Hippel-Lindau Disease
Papillary cystadenoma of the epididymis, Epididymal cyst ORPHA:892
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
OMIM:261650

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 Pck2

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 Pck2.

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

Title Journal IMPC Allele PubMed ID
Multi-Tissue Acceleration of the Mitochondrial Phosphoenolpyruvate Cycle Improves Whole-Body Metabolic Health. Cell metabolism (November 2020) Pck2tm1(KOMP)Vlcg 33147485

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MGI Allele Allele Type Produced
Pck2em1(IMPC)Tcp Inter-exon deletion Mice
Pck2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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