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Gene: Lmbrd1 MGI:1915671

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Gene Summary

Name:
LMBR1 domain containing 1
Synonyms:
0910001K20Rik

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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 glucose level Lmbrd1tm1b(EUCOMM)Hmgu HET Early adult 4.87×10-05
embryonic lethality prior to organogenesis Lmbrd1tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
embryonic lethality prior to tooth bud stage Lmbrd1tm1b(EUCOMM)Hmgu HOM   E12.5 0.00
decreased mean corpuscular hemoglobin Lmbrd1tm1b(EUCOMM)Hmgu HET   Early adult 8.50×10-05
preweaning lethality, complete penetrance Lmbrd1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal embryo size Lmbrd1tm1b(EUCOMM)Hmgu HET E9.5 0.00

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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 80% (4 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 0.0% (0 of 2)
Oral cavity N/A heterozygote 40% (2 of 5)
Skeleton N/A heterozygote 0.0% (0 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 40% (2 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

72 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Gross Pathology and Tissue Collection

Images

7 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Hind Leg and Hip

4 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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Human diseases caused by Lmbrd1 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 Lmbrd1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:277380
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Growth delay ORPHA:79284

The table below shows human diseases predicted to be associated to Lmbrd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c OMIM:618858
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus OMIM:610582
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c OMIM:609812
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c OMIM:606176
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young, Elevated hemoglobin A1c OMIM:616511
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hyperglycemia, Transien... ORPHA:99886
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... OMIM:262190
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Glycosuria, Hyperglycemia, Elevated hemoglobin A1c, Trans... ORPHA:552
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Beta-Thalassemia
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia ORPHA:848
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin resistance... OMIM:604367
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Beta-Thalassemia Intermedia
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Diabetes mellitus, He... ORPHA:231222
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Diabetic ketoacidosis, Fasting hypoglycemia, Gly... ORPHA:2298
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia OMIM:619737
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231214
Donohue Syndrome
Hyperinsulinemia, Hyperglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:246200
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Leukocytosis, Hyperglycemia, Thrombocytopenia, Neutropenia ORPHA:391673
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hypoglycemia, Hyperglycemia OMIM:615453
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Cole Disease
Hyperglycemia OMIM:615522
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Anemia, Postprandial hyperglycemia ORPHA:440713
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Beta-Ketothiolase Deficiency
Hypoglycemia, Thrombocytosis, Hyperglycemia, Leukocytosis ORPHA:134
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Anemia, Hypoglycemia OMIM:609069
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Postprandial hyp... ORPHA:2088
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Leukocytosis ORPHA:90065
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hyperglycemia, Splenomegaly ORPHA:465508
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Mitchell-Riley Syndrome
Diabetes mellitus, Hyperglycemia OMIM:615710
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Thrombocytopenia, Hypoglycemia OMIM:620423
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Impaired glucose tolerance, Diabetic ketoacidosis, Insulin resistance, Fast... ORPHA:769
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hyperglycemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus OMIM:151660
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hyperglycemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus OMIM:248370
Alstrom Syndrome
Hyperinsulinemia, Hyperglycemia, Elevated hemoglobin A1c, Insulin-resistant diabetes mellitus OMIM:203800
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Fanconi-Bickel Syndrome
Glycosuria, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:227810
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Hyperglycemia, Neonatal insulin-dependent diabetes mellitus ORPHA:99885
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hyperglycemia ORPHA:3008
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Hyperglycemia, Recurrent hypoglycemia OMIM:124000
Atypical Werner Syndrome
Hyperinsulinemia, Glycosuria, Hyperglycemia, Type II diabetes mellitus, Fasting hyperinsulinemia,... ORPHA:79474
Leprechaunism
Hyperinsulinemia, Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Recurrent... ORPHA:508
Scorpion Envenomation
Glycosuria, Hyperglycemia ORPHA:466677
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia ORPHA:444077
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Diabetes mellitus, Hyperglycemia OMIM:600001
Alkaptonuria
Hemolytic anemia, Methemoglobinemia ORPHA:56
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia ORPHA:79102
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia OMIM:220111
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia ORPHA:293987
Bardet-Biedl Syndrome
Insulin resistance, Impaired fasting glucose, Type II diabetes mellitus ORPHA:110
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:277380
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Growth delay ORPHA:79284

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 Lmbrd1

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 Lmbrd1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Lmbrd1tm1b(EUCOMM)Hmgu PMC8163790

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
Lmbrd1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Lmbrd1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lmbrd1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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