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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
abnormal stomach morphology Pck2em1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Pck2em1(IMPC)Tcp HOM Early adult 0.00
decreased circulating triglyceride level Pck2em1(IMPC)Tcp HOM Early adult 2.81×10-05
abnormal skin morphology Pck2em1(IMPC)Tcp HOM Early adult 0.00
small epididymis Pck2em1(IMPC)Tcp HOM Early adult 0.00
increased circulating aspartate transaminase level Pck2em1(IMPC)Tcp HOM Early adult 7.44×10-05

Download data as:  TSV  XLS

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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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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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Eye Morphology

Images Slit Lamp

60 Images

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Gross Pathology and Tissue Collection

Images

11 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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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, Splenomegaly, Gastric varix, Hepatocellular carcinoma OMIM:613490
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Ovarian neoplasm, Co... ORPHA:157798
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach OMIM:114500
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormal lymph no... ORPHA:543
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Hyperammonemia ORPHA:664
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Cryptorchidism, Testicular seminoma, Abnormal stomach morphology ORPHA:281090
Intrinsic Factor Deficiency
Reduced haptoglobin level, Absence of intrinsic factor OMIM:261000
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Esophageal va... ORPHA:64743
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Hyp... OMIM:174900
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, Lymph node hypo... OMIM:602450
Nephrotic Syndrome, Type 1
Pyloric stenosis, Hyperlipidemia, Gastroesophageal reflux, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Familial Melanoma
Abnormality of the lymphatic system, Neoplasm of the stomach ORPHA:618
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Cryptorchidism, Pyloric stenosis, Cleft palate, High palate, Hypercholesterol... ORPHA:96184
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... ORPHA:220460
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Bronchogenic Cyst
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology ORPHA:234
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Lymph node hypoplasia,... OMIM:613179
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresia, Rectal atre... ORPHA:2538
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ... OMIM:617100
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... OMIM:300048
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum alpha-fetoprotein OMIM:226730
Muir-Torre Syndrome
Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, C... ORPHA:587
Chronic Granulomatous Disease
Malabsorption, Splenomegaly, Mediastinal lymphadenopathy, Pyloric stenosis, Tracheoesophageal fis... ORPHA:379
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Epididymitis, Prostatitis, Hepatocellular carcinoma OMIM:300755
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Esophageal Atresia
Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Pyloric stenosis, Gastroi... ORPHA:1199
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Hypersplenism, Splenomegaly, Celiac disease, Hematemes... OMIM:301068
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Pyloric stenosis, Papillary cystadenoma of the epididymis, Bico... ORPHA:93111
Renal Cysts And Diabetes Syndrome
Hypospadias, Elevated circulating creatinine concentration, Hypoplasia of the uterus, Bicornuate ... OMIM:137920
Epidermolysis Bullosa Simplex With Pyloric Atresia
Elevated circulating creatine kinase concentration, Congenital pyloric atresia ORPHA:158684
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Hepatic hemangioma, Epididymal cyst OMIM:193300
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Neoplasm of the stomach, Testicular neoplasm, Hepato... ORPHA:1359
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Williams Syndrome
Colonic diverticula, Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated ... ORPHA:904
Floating-Harbor Syndrome
Hypospadias, Celiac disease, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele OMIM:136140
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Celiac disease, Gastroesophageal reflux, Epididy... 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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