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Gene: Eprs1 MGI:97838

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Gene Summary

Name:
glutamyl-prolyl-tRNA synthetase 1
Synonyms:
Eprs,  3010002K18Rik,  2410081F06Rik,  Qprs

Order Alleles

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
embryonic lethality prior to tooth bud stage Eprs1tm1b(EUCOMM)Hmgu HOM   E12.5 0.00
decreased prepulse inhibition Eprs1tm1b(EUCOMM)Hmgu HET   Early adult 4.04×10-05
preweaning lethality, complete penetrance Eprs1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal embryo size Eprs1tm1b(EUCOMM)Hmgu HET E9.5 0.00
decreased circulating creatinine level Eprs1tm1b(EUCOMM)Hmgu HET   Early adult 6.37×10-05
abnormal lung morphology Eprs1tm1b(EUCOMM)Hmgu HET Early adult 0.00
embryonic lethality prior to organogenesis Eprs1tm1b(EUCOMM)Hmgu HOM   E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 40% (2 of 5)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 40% (2 of 5)
Embryo N/A heterozygote 100% (5 of 5)
Eye N/A heterozygote 40% (2 of 5)
Footplate N/A heterozygote 0.0% (0 of 5)
Forebrain N/A heterozygote 40% (2 of 5)
Forelimb N/A heterozygote 40% (2 of 5)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 5)
Head N/A heterozygote 0.0% (0 of 5)
Heart N/A heterozygote 40% (2 of 5)
Hindbrain N/A heterozygote 40% (2 of 5)
Hindlimb N/A heterozygote 40% (2 of 5)
Liver N/A heterozygote 40% (2 of 5)
Lung N/A heterozygote 40% (2 of 5)
Mandibular process N/A heterozygote 40% (2 of 5)
Maxillary process N/A heterozygote 40% (2 of 5)
Midbrain N/A heterozygote 40% (2 of 5)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 40% (2 of 5)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 40% (2 of 5)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 40% (2 of 5)
Tail N/A heterozygote 0.0% (0 of 5)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Embryo LacZ

LacZ images wholemount

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

2 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Human diseases caused by Eprs1 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 Eprs1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leukodystrophy, Hypomyelinating, 15
Failure to thrive OMIM:617951

The table below shows human diseases predicted to be associated to Eprs1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Recurrent lower respiratory tract infections, Hypohomocysteinemia, Hy... OMIM:617744
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Elevated circulating creatinine concentration, Bronchiectasis OMIM:619468
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure ORPHA:369873
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat... ORPHA:79126
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Pulmonary hypoplasia OMIM:616733
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Pulmonary hypoplasia OMIM:602088
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Irregular septal thickening on pulmonary HRCT, Pul... ORPHA:90060
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Elevated circulating creatinine concentration, Hyperbilirubinemia, Pulmonary edema ORPHA:542323
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia OMIM:618885
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Aapoaiv Amyloidosis
Abnormal lung morphology, Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Bacterial Toxic-Shock Syndrome
Pneumonia, Elevated circulating creatine kinase concentration, Respiratory tract infection, Eleva... ORPHA:36234
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Increased ... OMIM:223900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Oligomeganephronia
Pulmonary venous occlusion, Elevated circulating creatinine concentration, Pulmonary hypoplasia ORPHA:2260
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Pneumonia ORPHA:247691
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... ORPHA:411634
Multiple Myeloma
Hyperproteinemia, Pleural effusion, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Elevated circulating creatinine concentration OMIM:617478
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia, Pleura... ORPHA:340
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration, Abnormality of the pulmonary vasculature, Pulmonar... ORPHA:93126
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Limb joint contracture, Small for gestational age, Decreased resting energy expenditure, Achilles... ORPHA:404454
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Abnormal lung morphology, Elevated circula... ORPHA:449395
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Biliary, Renal, Neurologic, And Skeletal Syndrome
Recurrent respiratory infections, Hypercholesterolemia, Conjugated hyperbilirubinemia, Increased ... OMIM:619534
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... ORPHA:91500
Leukodystrophy, Hypomyelinating, 15
Failure to thrive OMIM:617951

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 Eprs1

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 Eprs1.

No publications found that use IMPC mice or data for Eprs1.

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
Eprs1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Eprs1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Eprs1tm272352(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Eprs1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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