Gene Summary

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

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

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 50% (1 of 2)
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)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 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)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 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)
Prostate gland N/A heterozygote 50% (1 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)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (1 of 2)
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)
Testis N/A heterozygote 50% (1 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)
Vas deferens N/A heterozygote 50% (1 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.

Adult LacZ

LacZ Images Section

34 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Tachypnea, Increased blood urea nitrogen, Hyperi... OMIM:620085
Diarrhea 13
Hypoalbuminemia OMIM:620357
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea, Abnormal circulating protein concentration, Elevated circulating... ORPHA:264675
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Tachypnea OMIM:616414
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... OMIM:615160
Methionine Malabsorption Syndrome
Positive ferric chloride test, Tachypnea OMIM:250900
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Surfactant Metabolism Dysfunction, Pulmonary, 4
Tachypnea, Intraalveolar phospholipid accumulation OMIM:300770
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Elevated circulating creatine kinase concentration OMIM:620326
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... OMIM:616050
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Acute Lung Injury
Elevated circulating C-reactive protein concentration, Increased circulating surfactant protein l... ORPHA:178320
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hyperammonemia, Hyperglutamatemia, Hyperglutaminemia, Low plasma citrulline... OMIM:237310
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Avian Influenza
Hypoalbuminemia, Respiratory distress, Elevated circulating creatine kinase concentration, Tachyp... ORPHA:454836
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Central hypoventilation OMIM:619483
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Central apnea, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Central apnea, Hypernatremia ORPHA:529799
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Elevated circulating creatine kinase concentration OMIM:603689
Holocarboxylase Synthetase Deficiency
Hyperventilation, Tachypnea, Hyperammonemia OMIM:253270
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase concentrat... OMIM:615838
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Citrullinemia Type I
Tachypnea, Elevated plasma citrulline, Hyperammonemia ORPHA:247525
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Respiratory distress, Episodic tachypnea, Hyperuricemia, Intermitten... ORPHA:348
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea OMIM:267450
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Tetanus
Respiratory distress, Tachypnea, Elevated circulating creatine kinase concentration ORPHA:3299
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Leishmaniasis
Hypoalbuminemia ORPHA:507
Obesity-Hypoventilation Syndrome
Hypoventilation OMIM:257500
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Respiratory distress ORPHA:367
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Hyperammonemia ORPHA:79242
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Tachypnea, Decreased circulating carnitine concentration, Hyperammonemia, Elevated circulating cr... OMIM:201475
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation OMIM:300673
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Respiratory distress, Episodic tachypnea, Hyperammon... ORPHA:26793
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea OMIM:263000
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Central apnea OMIM:611560
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia, Respiratory distress ORPHA:292
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Hyperventilation, Apnea OMIM:617903
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Tachypnea, Hyperhomocys... OMIM:614857
Cholera
Hypocalcemia, Hypokalemia, Hyponatremia, Tachypnea, Hyperventilation, Abnormal blood ion concentr... ORPHA:173
Reni Syndrome
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Respiratory distress, Hyperbilirubinemia, Hypertyrosinemia, ... OMIM:617156
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Hyperglycinemia OMIM:614299
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Fructose-1,6-Bisphosphatase Deficiency
Hyperventilation, Apnea OMIM:229700
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Respiratory distress, Elevated circulating creatinine concentration, Hypocalcemi... ORPHA:36234
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hyperventilation, Elevated circulating creatine kinase concentration OMIM:618775
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Propionic Acidemia
Tachypnea, Apnea, Hyperglycinemia, Hyperammonemia OMIM:606054
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Cardiomyopathy, Dilated, 2H
Tachypnea OMIM:620203
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... OMIM:615751
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Tachypnea, Respiratory distress ORPHA:36238
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Muscular Dystrophy, Duchenne Type
Hypoventilation, Elevated circulating creatine kinase concentration OMIM:310200
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Respiratory distress OMIM:617303
Joubert Syndrome 9
Episodic tachypnea, Apnea OMIM:612285
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea, Hyperammonemia ORPHA:79241
Myasthenic Syndrome, Congenital, 20, Presynaptic
Apnea, Hypoventilation OMIM:617143
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Tachypnea, Intraalveolar phospholipid accumulation ORPHA:217563
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation OMIM:618232
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Respiratory distress, Hypocalcemia, Decreased circulating prealb... ORPHA:37042
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Joubert Syndrome 17
Hyperventilation OMIM:614615
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Surfactant Metabolism Dysfunction, Pulmonary, 1
Tachypnea, Apnea, Intraalveolar phospholipid accumulation OMIM:265120
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Rh Deficiency Syndrome
Tachypnea, Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Tachypnea, Hyperbilirubinemia ORPHA:542323
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea ORPHA:60032
Infant Acute Respiratory Distress Syndrome
Tachypnea, Nasal flaring ORPHA:70587
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Tachypnea OMIM:615934
Juvenile Neuronal Ceroid Lipofuscinosis
Episodic tachypnea, Apnea ORPHA:79264
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Atypical Rett Syndrome
Episodic tachypnea, Sudden episodic apnea ORPHA:3095
Multifocal Atrial Tachycardia
Tachypnea ORPHA:3282
Bethlem Muscular Dystrophy
Hypoventilation, Elevated circulating creatine kinase concentration ORPHA:610
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Postpoliomyelitis Syndrome
Hypoventilation ORPHA:2942
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Joubert Syndrome 3
Episodic tachypnea, Central apnea OMIM:608629
Biotinidase Deficiency
Tachypnea, Apnea, Hyperammonemia OMIM:253260
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Rett Syndrome
Intermittent hyperventilation, Apnea OMIM:312750
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Pyruvate Dehydrogenase Deficiency
Tachypnea ORPHA:765
Hyperparathyroidism, Neonatal Severe
Tachypnea, Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Tachypnea, Hypog... ORPHA:3008
Perry Syndrome
Hypoventilation, Central hypoventilation OMIM:168605
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Central Hypoventilation Syndrome, Congenital, 1
Nocturnal hypoventilation, Apnea, Hypoventilation, Central hypoventilation OMIM:209880
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea OMIM:604320
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Abnormality of iro... OMIM:222470
Pitt-Hopkins-Like Syndrome 2
Hyperventilation OMIM:614325
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Respiratory distress ORPHA:505248
High Altitude Pulmonary Edema
Tachypnea ORPHA:330012
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea OMIM:613320
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Low plasma citrulline, Hyperalaninemia, Hyperventilation ORPHA:255210
Primary Pulmonary Hypoplasia
Tachypnea, Apnea ORPHA:2257
Beta-Ketothiolase Deficiency
Tachypnea, Hyperammonemia, Hyperuricemia ORPHA:134
Adult-Onset Cervical Dystonia, Dyt23 Type
Hyperventilation ORPHA:420492
Cocaine Intoxication
Respiratory distress, Hyperventilation, Tachypnea, Elevated circulating creatine kinase concentra... ORPHA:90068
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Tachypnea, Apnea, Intraalveolar phospholipid accumulation OMIM:610921
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Hyperventilation ORPHA:98784
Joubert Syndrome 8
Hyperventilation OMIM:612291
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci... ORPHA:90363
Double Outlet Right Ventricle
Tachypnea, Hypocalcemia ORPHA:3426
Childhood Absence Epilepsy
Hyperventilation ORPHA:64280
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch... ORPHA:186
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Abnormal cir... ORPHA:2298
Pitt-Hopkins-Like Syndrome 1
Hyperventilation OMIM:610042
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Apnea, Hyperammonemia, Hyperuricemia ORPHA:20
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Tachypnea, Hypocalcemia OMIM:613658
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Tachypnea, Intraalveolar phospholipid accumulation OMIM:610913
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Tachypnea OMIM:610978
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Rabin-Pappas Syndrome
Hyponatremia, Hypoventilation OMIM:620155
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Increased circulating copper concentration, De... OMIM:277900
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Aspiration, Hypoventilation, Highly elevated creatine kinase ORPHA:258
Ethylene Glycol Poisoning
Tachypnea, Hyperkalemia, Hypocalcemia, Episodic respiratory distress ORPHA:31826
Mogs-Cdg
Respiratory distress, Apnea, Hypoventilation ORPHA:79330
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation OMIM:620275
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Abnormal circulating citrulline concentration, Tachypnea, Hyperammonemia, Hyperornithinemia ORPHA:415
Developmental And Epileptic Encephalopathy 2
Hyperventilation OMIM:300672
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Congenitally Uncorrected Transposition Of The Great Arteries
Tachypnea ORPHA:860
Encephalitis Lethargica
Hyperventilation ORPHA:83600
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation ORPHA:98915
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperventilation, Apnea OMIM:617799
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia, Respiratory distress OMIM:614748
Joubert Syndrome
Episodic tachypnea, Apnea ORPHA:475
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hyperventilation, Central apnea ORPHA:522077
Brachytelephalangic Chondrodysplasia Punctata
Tachypnea, Central apnea ORPHA:79345
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation OMIM:606056
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Apnea, Hypopnea, Hypoventilation OMIM:619482
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Tachypnea, H... ORPHA:466650
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea ORPHA:397715
Serotonin Syndrome
Tachypnea ORPHA:43116
Coronary Arterial Fistula
Tachypnea ORPHA:2041
Cntnap2-Related Developmental And Epileptic Encephalopathy
Intermittent hyperventilation ORPHA:163681
Scorpion Envenomation
Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP co... ORPHA:466677
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2331
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration OMIM:270400
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation OMIM:618493
Prader-Willi Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Hypoventilation, Decreased HDL cholesterol concentration OMIM:176270
Intellectual Developmental Disorder, Autosomal Dominant 57
Hyperventilation OMIM:618050
Pulmonary Alveolar Microlithiasis
Increased circulating surfactant protein level, Tachypnea ORPHA:60025
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Joubert Syndrome 2
Episodic tachypnea, Central apnea OMIM:608091
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions ORPHA:1329
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Intermittent hyperventilation OMIM:300749
Joubert Syndrome 1
Episodic tachypnea, Central apnea OMIM:213300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia, Tachypnea OMIM:618278
Proximal Spinal Muscular Atrophy
Hypoventilation ORPHA:70
Pitt-Hopkins Syndrome
Intermittent hyperventilation OMIM:610954
Pitt-Hopkins Syndrome
Hyperventilation ORPHA:2896
Orofaciodigital Syndrome Type 6
Episodic tachypnea, Apnea ORPHA:2754
Congenital Tricuspid Valve Dysplasia
Tachypnea ORPHA:555874
Smooth Muscle Dysfunction Syndrome
Tachypnea OMIM:613834
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Atrial Septal Defect, Ostium Primum Type
Tachypnea ORPHA:99106
Acute Liver Failure
Hyperventilation, Hyperammonemia ORPHA:90062
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hypoventilation, Central hypoventilation ORPHA:293987
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation ORPHA:99949
Histiocytoid Cardiomyopathy
Tachypnea ORPHA:137675
Arima Syndrome
Tachypnea OMIM:243910
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Joubert Syndrome 5
Episodic tachypnea, Central apnea OMIM:610188
Double Outlet Left Ventricle
Tachypnea ORPHA:3427
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea, Hyperammonemia OMIM:220111
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Hypoventilation, Increased serum bile acid concentration ORPHA:731
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypoventilation OMIM:203700
Aortic Arch Interruption
Respiratory distress, Tachypnea ORPHA:2299
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Apnea, Hypoventilation ORPHA:438213
Goodpasture Syndrome
Tachypnea, Increased blood urea nitrogen OMIM:233450
Pmm2-Cdg
Hypoalbuminemia, Respiratory distress, Reduced thyroxin-binding globulin ORPHA:79318
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Hypoventilation OMIM:620455
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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