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Gene: Lrrtm3 MGI:2389177

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Gene Summary

Name:
leucine rich repeat transmembrane neuronal 3
Synonyms:
9630044H04Rik

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
increased circulating serum albumin level Lrrtm3tm1b(KOMP)Mbp HOM   Early adult 6.24×10-06
increased circulating aspartate transaminase level Lrrtm3tm1b(KOMP)Mbp HOM Early adult 1.67×10-05
decreased pulmonary ventilation Lrrtm3tm1b(KOMP)Mbp HOM Early adult 1.67×10-05
increased pulmonary ventilation Lrrtm3tm1b(KOMP)Mbp HOM Early adult 2.08×10-05
decreased pulmonary respiratory rate Lrrtm3tm1b(KOMP)Mbp HOM Early adult 2.97×10-07
increased circulating alanine transaminase level Lrrtm3tm1b(KOMP)Mbp HOM Early adult 1.27×10-05
increased tidal volume Lrrtm3tm1b(KOMP)Mbp HOM Early adult 1.27×10-07

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

10 Images

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Adult LacZ

LacZ Images Section

34 Images

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X-ray

XRay Images Forepaw

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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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Lrrtm3 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 Lrrtm3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Elevated circulating creatine kinase concentration, Reduced forced vital capacity, Respiratory in... OMIM:617232
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating pr... ORPHA:264675
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Restrictive ventilator... OMIM:616414
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... OMIM:300770
Congenital Lethal Erythroderma
Hypoalbuminemia, Respiratory insufficiency ORPHA:1954
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u... OMIM:620085
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Elevated circulating creatine kinase concentration, Respiratory insuf... OMIM:613869
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Hypoalbuminemia, Hyperlipidemia OMIM:603278
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Elevated circulating creatine kinase concentration, Nocturnal hypov... OMIM:620326
Methionine Malabsorption Syndrome
Tachypnea, Positive ferric chloride test OMIM:250900
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Avian Influenza
Respiratory distress, Pneumonia, Elevated circulating creatine kinase concentration, Productive c... ORPHA:454836
Diarrhea 13
Hypoalbuminemia OMIM:620357
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Acute Lung Injury
Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Dyspnea, ... ORPHA:178320
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Episodic tachypnea, Hyperammonemia, Elevated circulating suberic acid c... OMIM:615160
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Hypertriglyceridemia, Hypoalbuminemia, Cough OMIM:619013
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Nephrotic Syndrome, Type 1
Hypoproteinemia, Neonatal respiratory distress, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Nonproduc... ORPHA:36238
Alg1-Cdg
Respiratory failure, Hypoalbuminemia ORPHA:79327
Immunodeficiency 27A
Abnormal bronchus physiology, Hypoalbuminemia, Pneumonia OMIM:209950
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia, Bronchiectasis OMIM:241600
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Elevated circulating creatine kinase concentration, ... OMIM:603689
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Exertiona... ORPHA:86839
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Cardiomyopathy, Dilated, 2H
Tachypnea, Cardiorespiratory arrest OMIM:620203
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Eosinophilic Gastroenteritis
Asthma, Hypoalbuminemia, Allergic rhinitis, Elevated circulating C-reactive protein concentration ORPHA:2070
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Acute Interstitial Pneumonia
Crackles, Elevated circulating C-reactive protein concentration, Nonproductive cough, Dyspnea, Ta... ORPHA:79126
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation... OMIM:265120
Immunodeficiency 32B
Pneumonia, Sinusitis, Hypoalbuminemia, Bronchiectasis OMIM:226990
Chronic Bilirubin Encephalopathy
Central apnea, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Obesity-Hypoventilation Syndrome
Hypoventilation OMIM:257500
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... ORPHA:567548
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Pulmonary arterial hypertension, Hypoalbuminemia, Respiratory insufficiency OMIM:617021
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failure, Abnormal circul... OMIM:615838
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hypoalbuminemia, Respiratory insufficiency ORPHA:367
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Muscular Dystrophy, Duchenne Type
Hypoventilation, Elevated circulating creatine kinase concentration, Respiratory insufficiency du... OMIM:310200
Citrullinemia Type I
Elevated plasma citrulline, Tachypnea, Hyperammonemia ORPHA:247525
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Leishmaniasis
Rhinitis, Hypoalbuminemia ORPHA:507
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Tachypnea, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:201475
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Respiratory insufficiency, Respiratory failure, Hyperglycinemia OMIM:614299
Amoebiasis Due To Entamoeba Histolytica
Dyspnea, Pleural empyema, Hypoalbuminemia, Cough, Pleural effusion ORPHA:67
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Tetanus
Respiratory distress, Tachypnea, Elevated circulating creatine kinase concentration ORPHA:3299
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Hyperammonemia ORPHA:79242
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Reduced forced vital capacity, Restrictive ventilatory defect, Elevated circulating creatine kina... OMIM:607155
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Breathing dysregulation OMIM:618232
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperammonemia, Hyperventilation OMIM:253270
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia, Pulmonary embolism OMIM:226300
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Hyperhomocystinemia, Elevated circulating p... OMIM:614857
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion, Hypoalbuminemia, Hyperammonemia ORPHA:292
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Elevated circulating creatine kinase concent... ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Respiratory failure, Hypoalbuminemia, Respiratory insufficiency OMIM:618329
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... OMIM:242150
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbili... OMIM:617156
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency ORPHA:2942
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Hyperventilation OMIM:618775
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Elevated circulating creatine kinase concentration, T... ORPHA:36234
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Dyspnea, Hyperlipidemia, Hypoalbuminemia, Pleural effusion ORPHA:567546
Perry Syndrome
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency OMIM:168605
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pleural effusion, Hypoproteinemia ORPHA:90362
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Elevated circulating creatinine concentration, Hypoxemia, Respiratory failure, Hyperbi... ORPHA:542323
Propionic Acidemia
Tachypnea, Apnea, Hyperglycinemia, Hyperammonemia OMIM:606054
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Ullrich Congenital Muscular Dystrophy 2
Nocturnal hypoventilation OMIM:616470
Cholera
Hyponatremia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration ... ORPHA:173
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Low plasma citrulline, Tachypnea, Hyperammonemia, Hyperprolinemia, Hypoornithi... OMIM:615751
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Malignant Hyperthermia Of Anesthesia
Hypercapnia, Tachypnea, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Joubert Syndrome 17
Hyperventilation OMIM:614615
Perry Syndrome
Central hypoventilation ORPHA:178509
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Ullrich Congenital Muscular Dystrophy 1
Nocturnal hypoventilation, Respiratory insufficiency due to muscle weakness, Mildly elevated crea... OMIM:254090
Rh Deficiency Syndrome
Hypoxemia, Tachypnea, Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pleural effusion OMIM:618183
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea ORPHA:3282
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent pneumonia, Hypoalbuminemia OMIM:617303
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Dyspnea, Tachypnea, Hypophosphatemia OMIM:239200
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Al Amyloidosis
Dyspnea, Nonproductive cough, Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea ORPHA:765
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Pneumonia, Abnormal blood ion concentration, Interstitial pneumonitis, Hypo... ORPHA:37042
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure, Elevated circulating creatine kinase concen... ORPHA:610
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Biotinidase Deficiency
Tachypnea, Apnea, Hyperammonemia OMIM:253260
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Pleural effusion, Hypoalbuminemia OMIM:254900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperammonemia, Hyperventilation ORPHA:79241
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Respiratory fai... ORPHA:14
Pitt-Hopkins-Like Syndrome 2
Hyperventilation OMIM:614325
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea, Elevated circulating C-reactive protein concentration OMIM:615934
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Stridor, Hypoalbuminemia, Pulmonary arterial hypertension, Airway obstruction ORPHA:505248
Beta-Ketothiolase Deficiency
Tachypnea, Hyperuricemia, Hyperammonemia, Cough ORPHA:134
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Neonatal hyperbilirubinemia, Tachy... ORPHA:3008
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Adult-Onset Cervical Dystonia, Dyt23 Type
Hyperventilation ORPHA:420492
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia OMIM:251880
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Hypoalbuminemia, Hypocalcemia, Unconju... OMIM:613658
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Hyperventilation ORPHA:98784
Joubert Syndrome 8
Hyperventilation OMIM:612291
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea OMIM:613320
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Pleural effu... ORPHA:90363
Cocaine Intoxication
Respiratory distress, Elevated circulating creatine kinase concentration, Wheezing, Tachypnea, Pn... ORPHA:90068
Childhood Absence Epilepsy
Hyperventilation ORPHA:64280
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pleural effusion, Hypoalbuminemia OMIM:235510
Alg12-Cdg
Hyponatremia, Recurrent pneumonia, Hypoalbuminemia, Chronic rhinitis, Hypocholesterolemia ORPHA:79324
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Double Outlet Right Ventricle
Tachypnea, Hypocalcemia ORPHA:3426
Pitt-Hopkins-Like Syndrome 1
Hyperventilation OMIM:610042
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Coronary Arterial Fistula
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... ORPHA:89842
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Hypoalbuminemia, Respiratory acidosis OMIM:614748
Rett Syndrome
Apnea, Intermittent hyperventilation OMIM:312750
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Insulin-Resistance Syndrome Type B
Pneumonia, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Hypoalbuminemia, A... ORPHA:2298
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Low plasma citrulline, Episodic respiratory distress, Hyperalaninemia, Hyperventi... ORPHA:255210
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation, Hyponatremia OMIM:620155
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Ethylene Glycol Poisoning
Tachypnea, Hyperkalemia, Episodic respiratory distress, Hypocalcemia, Abnormal pattern of respira... ORPHA:31826
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Apnea, Hyperuricemia, Hyperammonemia ORPHA:20
Haddad Syndrome
Central hypoventilation, Breathing dysregulation ORPHA:99803
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea ORPHA:860
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Crackles, Tachypnea, Hyperkalemia, Hyperphosp... ORPHA:466650
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... OMIM:277900
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation OMIM:620275
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperornithinemia, Tachypnea, Abnormal circulating citrulline concentration, Hyperammonemia ORPHA:415
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Nonproductive cough, Elevate... ORPHA:99826
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis OMIM:222470
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... ORPHA:99106
Developmental And Epileptic Encephalopathy 2
Hyperventilation OMIM:300672
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Encephalitis Lethargica
Hyperventilation ORPHA:83600
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia, Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:618278
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation OMIM:606056
Serotonin Syndrome
Tachypnea ORPHA:43116
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease ORPHA:397715
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Increased blood urea nitrogen, Restrictive ventilatory defec... OMIM:233450
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea ORPHA:79330
Primary Sclerosing Cholangitis
Pleural effusion, Hypoalbuminemia ORPHA:171
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Tachypnea, Hypokalemia, Increased circulating crea... ORPHA:466677
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, Recurrent pneumonia OMIM:618493
Cntnap2-Related Developmental And Epileptic Encephalopathy
Intermittent hyperventilation ORPHA:163681
Joubert Syndrome 2
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608091
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Elevated circulating C-reactive protein concentration, Bronchiectasis, Hypoalbuminemia... OMIM:619381
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Hyperventilation OMIM:617799
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Hyperventilation ORPHA:522077
Joubert Syndrome 1
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:213300
Intellectual Developmental Disorder, Autosomal Dominant 57
Hyperventilation OMIM:618050
Tropical Endomyocardial Fibrosis
Orthopnea, Dyspnea, Pulmonary venous hypertension, Hypoalbuminemia ORPHA:75565
Acute Liver Failure
Abnormal respiratory system physiology, Hyperammonemia, Hypocapnia, Abnormal pattern of respirati... ORPHA:90062
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Intermittent hyperventilation OMIM:300749
Pitt-Hopkins Syndrome
Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia OMIM:270400
Pitt-Hopkins Syndrome
Intermittent hyperventilation OMIM:610954
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hypoventilation, Central hypoventilation, Asthma, Hyperlipidemia, Hyperkalemia, Car... ORPHA:293987
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Respiratory insufficiency ORPHA:99949
Histiocytoid Cardiomyopathy
Tachypnea, Cough ORPHA:137675
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypercholesterolemia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration... OMIM:619534
Arima Syndrome
Dyspnea, Tachypnea OMIM:243910
Double Outlet Left Ventricle
Tachypnea ORPHA:3427
Prader-Willi Syndrome
Hypoventilation OMIM:176270
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Respiratory failure... ORPHA:731
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Hypoventilation OMIM:203700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea, Hyperammonemia OMIM:220111
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Aspiration pneumonia ORPHA:438213
Pmm2-Cdg
Respiratory distress, Reduced thyroxin-binding globulin, Hypoalbuminemia, Aspiration pneumonia ORPHA:79318
Truncus Arteriosus
Tachypnea ORPHA:3384
Pallister-Killian Syndrome
Apneic episodes in infancy, Hyperventilation OMIM:601803

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 Lrrtm3

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 Lrrtm3.

No publications found that use IMPC mice or data for Lrrtm3.

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
Lrrtm3tm1b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Lrrtm3tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Lrrtm3tm446896(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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