Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased circulating iron level Ergic2em1(IMPC)Hmgu HET Early adult 1.20×10-07
preweaning lethality, incomplete penetrance Ergic2em1(IMPC)Hmgu HOM   Early adult 0.000798
abnormal seminal vesicle morphology Ergic2em1(IMPC)Hmgu HET Early adult 0.00
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

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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widen... ORPHA:2502
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal irregularity, Flattene... ORPHA:93356
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Cardiomyopathy, Elevated transferrin saturation, Splenomegaly... OMIM:613313
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Short phalanx of finger, Short long bone, Flat acetabular ... OMIM:300106
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis ORPHA:2768
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Talipes equinovarus, Metaphyseal irregularity, Long fibula, Iliac crest serration, S... OMIM:250220
Hemochromatosis Type 2
Dilated cardiomyopathy, Abnormality of iron homeostasis, Elevated transferrin saturation, Hypogon... ORPHA:79230
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Abnormal heart morphology, Absent tibia, Polydactyly OMIM:188740
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Increased serum iron, Azoospermia, Hypogonadotropic hypogon... OMIM:602390
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate OMIM:603358
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... OMIM:602111
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Hemochromatosis, Type 3
Increased serum iron, Hypogonadotropic hypogonadism, Elevated transferrin saturation, Cardiomyopa... OMIM:604250
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... OMIM:600785
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Cone-shaped epiphysis, Long fibula, Rhizomelic arm shortening, Iliac crest serration... ORPHA:93317
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Trapezoidal distal f... OMIM:307800
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Syndactyly, Tetralogy of Fallot, Hypocalcemia, Cutaneous... OMIM:601005
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Increased serum iron, Azoospermia, Hypogonadotropic hypogonadis... OMIM:235200
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypo... ORPHA:848
Hemochromatosis, Neonatal
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostasis OMIM:231100
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Abnormal calcification of the carpal bones, Metat... OMIM:271665
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Splenomeg... ORPHA:766
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypogonadism,... ORPHA:465508
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Increase... OMIM:616278
Tibial Hemimelia
Hypospadias, Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial clu... ORPHA:93322
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Irregular epiphyses, Small epiphyses, Metaphyseal irregularity, Long fibula, Narrow iliac wing, F... OMIM:610442
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Elevated hepatic iron concentration, Azoo... ORPHA:300298
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Long fibula, Abnormality of the metaphysis ORPHA:935
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding ca... OMIM:613280
Beta-Thalassemia Intermedia
Hepatomegaly, Hypoparathyroidism, Abnormality of iron homeostasis, Elevated hepatic iron concentr... ORPHA:231222
African Iron Overload
Hepatomegaly, Elevated hepatic iron concentration, Abnormal heart morphology, Elevated transferri... ORPHA:139507
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypoparathyroidism, Abnormality of iron homeostasis, Bowing of the long b... ORPHA:231226
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatomegaly, Hypoparathyroidism, Abnormality of iron homeostasis, Bowing... ORPHA:231214
Trichohepatoenteric Syndrome 1
Hypospadias, Hepatomegaly, Ventricular septal defect, Increased serum iron, Abnormality of iron h... OMIM:222470
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Decreased circulating ferritin concentration, Abnormal... ORPHA:309854
Syndromic Diarrhea
Bicuspid aortic valve, Ventricular septal defect, Hepatomegaly, Abnormality of iron homeostasis, ... 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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