Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
oxidized low density lipoprotein (lectin-like) receptor 1
Synonyms:
SR-EI,  Scare1,  LOX-1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Olr1 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 Olr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Paramyotonia Congenita Of Von Eulenburg
Abnormal blood potassium concentration, Myotonia of the face, Myotonia, Myotonia of the upper lim... ORPHA:684
Myotonia Congenita, Autosomal Dominant
Myotonia, Handgrip myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... OMIM:160800
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding, Elevated circulating creat... OMIM:606072
Myotonia Congenita, Autosomal Recessive
Myotonia, Myotonia with warm-up phenomenon, Percussion myotonia, EMG: myotonic runs OMIM:255700
Myotonia, Potassium-Aggravated
Myotonia, Handgrip myotonia, Percussion myotonia, Elevated circulating creatine kinase concentration OMIM:608390
Paramyotonia Congenita Of Von Eulenburg
Paradoxical myotonia, Handgrip myotonia, Percussion myotonia OMIM:168300
Thomsen And Becker Disease
Myotonia ORPHA:614
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Hyperkalemic Periodic Paralysis
Myotonia, Hyperkalemia OMIM:170500
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Myotonia ORPHA:371
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Percussion-induced rapid rolling muscle contr... ORPHA:488650
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Impaired myocardial contractility, Myotonia, Mildly elevated creatine kinase ORPHA:681
Normokalemic Periodic Paralysis
Percussion myotonia OMIM:170600
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval, Percussion myotonia, Elevated circulating creatine... OMIM:619040
Myotonia Fluctuans
Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the face, Myotonia of t... ORPHA:99734
Brody Disease
Myotonia, Percussion myotonia OMIM:601003
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia, Myotonia OMIM:170400
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Myotonic Dystrophy 2
Right bundle branch block, Decreased circulating total IgM, Myotonia, Handgrip myotonia, Elevated... OMIM:602668
Hyperkalemic Periodic Paralysis
Hypokalemia, Myotonia, Congestive heart failure, Hyperkalemia, Elevated circulating creatine kina... ORPHA:682
Myopathy, X-Linked, With Excessive Autophagy
Myotonia, Elevated circulating creatine kinase concentration OMIM:310440
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Myotonia, Dilated cardiomyopathy, Elevated cir... ORPHA:98855
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Myotonia, Dilated cardiomyopathy, Elevated cir... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Myotonia, Dilated cardiomyopathy, Elevated cir... ORPHA:261
Myotonic Dystrophy 1
Atrial flutter, First degree atrioventricular block, Myotonia, Atrial fibrillation OMIM:160900
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Myotonia, Elevated circulating creatine kinase... ORPHA:98863
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Percussion-induced rapid rolling muscle contractions, Myotonia, Handgrip myotonia, Elevated circu... ORPHA:324442
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia OMIM:255710
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Percussion myotonia ORPHA:34516
Zebra Body Myopathy
Handgrip myotonia, Elevated circulating creatine kinase concentration ORPHA:97240
Acetazolamide-Responsive Myotonia
Myotonia ORPHA:99736
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, EMG: myotonic runs, Elevated circulating creatine kinase c... ORPHA:353
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Myotonia ORPHA:589821
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Myotonia Permanens
Myotonia ORPHA:99735
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Impaired myocardial contractility, Transient hypophosphatemia, Myotonia, Hy... ORPHA:79102
Episodic Ataxia Type 1
Myotonia ORPHA:37612
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Richieri Costa-Da Silva Syndrome
Myotonia of the upper limb, Handgrip myotonia ORPHA:3101
Spastic Paraplegia 79B, Autosomal Recessive
Myotonia OMIM:615491
Schwartz-Jampel Syndrome, Type 1
Percussion myotonia, Elevated circulating creatine kinase concentration OMIM:255800
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Prolonged QT interval, Decreased circulating ... OMIM:613327
Idiopathic Camptocormia
Myotonia, Elevated circulating creatine kinase concentration ORPHA:1320
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Elevated circulating creatine kinase concentration, EMG: myotonic runs, Cardiomyopathy ORPHA:206549
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Myotonia OMIM:601559
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Myotonia, Elevated circulating creatine kinase concentration, Ar... ORPHA:800
Steinert Myotonic Dystrophy
Hypercholesterolemia, Supraventricular tachycardia, Myotonia of the upper limb, Dilated cardiomyo... ORPHA:273
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Handgrip myotonia ORPHA:438216

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 Olr1

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 Olr1.

No publications found that use IMPC mice or data for Olr1.

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MGI Allele Allele Type Produced
Olr1tm458683(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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