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Gene: Ergic2 MGI:1914706

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Gene Summary

Name:
ERGIC and golgi 2
Synonyms:
1200009B18Rik,  4930572C01Rik

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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 seminal vesicle morphology Ergic2em1(IMPC)Hmgu HET Early adult 0.00
increased circulating iron level Ergic2em1(IMPC)Hmgu HET Early adult 3.70×10-07
long tibia Ergic2em1(IMPC)Hmgu HET Early adult 2.11×10-05
increased heart weight Ergic2em1(IMPC)Hmgu HET Early adult 5.49×10-05
preweaning lethality, incomplete penetrance Ergic2em1(IMPC)Hmgu HOM   Early adult 0.000798

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.

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Ergic2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ergic2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral neck, Short... ORPHA:2502
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ... OMIM:615517
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... ORPHA:93356
Hemochromatosis, Type 2B
Splenomegaly, Hypogonadism, Elevated transferrin saturation, Increased circulating ferritin conce... OMIM:613313
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... OMIM:620121
Blount Disease
Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysis, Tibial bowing ORPHA:2768
Genetic Hyperferritinemia Without Iron Overload
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... ORPHA:254704
Hemochromatosis Type 2
Abnormality of iron homeostasis, Hypogonadism, Elevated transferrin saturation, Dilated cardiomyo... ORPHA:79230
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Short palm, Prominent... OMIM:300106
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... ORPHA:3344
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:205950
Hemochromatosis, Type 2A
Increased serum iron, Azoospermia, Dilated cardiomyopathy, Increased circulating ferritin concent... OMIM:602390
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Short toe, Metaphyseal irregularity, Iliac crest serration, Metaphyseal ... OMIM:250220
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... OMIM:620135
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Elevated transferrin saturation, Azoospermia, Increased circulating ferritin concen... OMIM:615234
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor... OMIM:602111
Hemochromatosis, Type 3
Elevated transferrin saturation, Increased circulating ferritin concentration, Hypogonadotropic h... OMIM:604250
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Trapezoidal distal femoral condyles, Genu valgum, Met... OMIM:307800
Spondylometaphyseal Dysplasia, Sedaghatian Type
Iliac crest serration, Myocarditis, Short metacarpal, Long fibula, Metaphyseal chondrodysplasia, ... ORPHA:93317
Hemochromatosis, Type 1
Splenomegaly, Azoospermia, Testicular atrophy, Increased circulating ferritin concentration, Hepa... OMIM:235200
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron OMIM:231100
Beta-Thalassemia
Abnormality of iron homeostasis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Hypog... ORPHA:848
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circula... ORPHA:766
Symptomatic Form Of Hemochromatosis Type 1
Abnormality of iron homeostasis, Elevated transferrin saturation, Testicular atrophy, Increased c... ORPHA:465508
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:616278
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short phalanx of finger, Hip subluxation, Triangular shaped distal phalanges of the hand, Short m... OMIM:271665
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Metaphyseal irregularity, Advanced ossification of carpal bones, Short femoral neck, Metaphyseal ... OMIM:610442
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Decreased transferrin saturation, Azoospermia, Hepatosplenomegaly, Increased circul... ORPHA:300298
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... OMIM:612576
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula ORPHA:935
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of iron homeostasis, Hypogonadism, Hepatosplenomegaly, Hypoparathyroi... ORPHA:231222
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Dominant Beta-Thalassemia
Genu valgum, Abnormality of iron homeostasis, Hypopituitarism, Dilated cardiomyopathy, Hepatosple... ORPHA:231226
Beta-Thalassemia Major
Genu valgum, Abnormality of iron homeostasis, Hypopituitarism, Dilated cardiomyopathy, Hepatosple... ORPHA:231214
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Splenomegaly, Increased serum iron, Abnormality of iron homeostasis, Ventricu... OMIM:222470
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hyperglycinemia, Increased total iron binding capacity, Abnormal blood inorganic cation concentra... ORPHA:309854
Syndromic Diarrhea
Abnormality of iron homeostasis, Ventricular septal defect, Hypoplasia of the thymus, Bicuspid ao... ORPHA:84064

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 Ergic2

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 Ergic2.

No publications found that use IMPC mice or data for Ergic2.

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MGI Allele Allele Type Produced
Ergic2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ergic2em1(IMPC)Hmgu Exon Deletion Mice
Ergic2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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