Gene Summary

Name:
mono-ADP ribosylhydrolase 2
Synonyms:
1110033L15Rik,  2900006F19Rik,  2610107G07Rik

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 blood urea nitrogen level Macrod2tm1.1(KOMP)Vlcg HOM Early adult 5.81×10-06
increased fasting circulating glucose level Macrod2tm1.1(KOMP)Vlcg HET Early adult 2.08×10-08
abnormal retina morphology Macrod2tm1.1(KOMP)Vlcg HOM Early adult 6.93×10-05
increased vertical activity Macrod2tm1.1(KOMP)Vlcg HET   Early adult 1.44×10-05
decreased thigmotaxis Macrod2tm1.1(KOMP)Vlcg HOM   Early adult 7.69×10-05
increased fasting circulating glucose level Macrod2tm1.1(KOMP)Vlcg HOM Early adult 9.13×10-08
increased hemoglobin content Macrod2tm1.1(KOMP)Vlcg HOM   Early adult 5.40×10-05
hyperactivity Macrod2tm1.1(KOMP)Vlcg HOM   Early adult 2.99×10-13
decreased circulating glucose level Macrod2tm1.1(KOMP)Vlcg HET Early adult 9.52×10-06
increased vertical activity Macrod2tm1.1(KOMP)Vlcg HOM Early adult 3.92×10-20
hyperactivity Macrod2tm1.1(KOMP)Vlcg HET   Early adult 3.93×10-05

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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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe 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)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thalamus 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)
Trachea 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)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
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%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
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 Skull Lateral Orientation

32 Images

Eye Morphology

Images Slit Lamp

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

32 Images

Sleep Wake

Wake state (bmp file)

27 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Forepaw

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

32 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

13 Images

Electroretinography

Cone waveform (pdf format)

9 Images

Electroretinography

Rod waveform (pdf format)

9 Images

Human diseases caused by Macrod2 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 Macrod2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... OMIM:620085
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia OMIM:238700
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... ORPHA:35878
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n... OMIM:617872
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia OMIM:240800
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia OMIM:605899
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia OMIM:222100
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior ORPHA:75858
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Retinal thinning, Optic disc pallor, Hyperglycemia, Ataxia OMIM:618970
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms OMIM:619470
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,... OMIM:613845
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Hypoglycemia ORPHA:67046
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hypoglycemia, Attention deficit hyperactivity disorder OMIM:620211
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... OMIM:261600
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy, Ataxia, Aggressive behavior OMIM:300983
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Abnormal retinal morphology on macular OCT, Increased blood urea nitrogen, Macular... ORPHA:251004
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degenera... OMIM:520000
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Essential Fructosuria
Hyperglycemia ORPHA:2056
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia OMIM:612716
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia OMIM:615924
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria OMIM:618857
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis ORPHA:382
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... OMIM:274150
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb... ORPHA:248111
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Irritability, Abnormality of iron h... ORPHA:848
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Landau-Kleffner Syndrome
Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, Steppage gait, Attentio... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Hyperglycemia, Polydipsia, Rod-cone dystrophy, Polyphagi... OMIM:615986
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... OMIM:617600
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Elevated circulating gamma-a... OMIM:271980
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Cockayne Syndrome Type 1
Ataxia, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Difficulty walking, Increased bl... ORPHA:90321
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Orthostatic Hypotension 1
Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen OMIM:223360
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Ab... ORPHA:100924
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr... OMIM:617302
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax... OMIM:617101
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Ab... ORPHA:760
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ... ORPHA:49041
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Irritability, Self-injurious b... ORPHA:449291
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Emotional lability, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Lymphopenia, Abnormal repetitive mannerisms ORPHA:391307
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... ORPHA:247585
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia OMIM:275000
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Beta-Ketothiolase Deficiency
Thrombocytosis, Ataxia, Anorexia, Hypoglycemia, Leukocytosis, Hyperammonemia, Agitation, Hyperuri... ORPHA:134
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... ORPHA:423479
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thromboc... OMIM:617052
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Retinal degeneration, Optic atrophy, Phonic tics... OMIM:234200
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior ORPHA:309246
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231214
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Spastic gait OMIM:207800
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Self-mutilation ORPHA:52503
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Imbalanced hemoglobin synthesis, Abnormal T ce... ORPHA:330015
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia,... OMIM:610217
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Insulin ... ORPHA:2298
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Optic atrophy, Depression, Self-injurious behavior, Anemia ORPHA:847
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Abnormal repetitive mannerisms, HbH hemoglobin, Hypochromic m... OMIM:301040
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Goodpasture Syndrome
Anemia, Increased blood urea nitrogen OMIM:233450
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650

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 Macrod2

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 Macrod2.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Behavioural Characterisation of Macrod1 and Macrod2 Knockout Mice. Cells (February 2021) Macrod2tm1(KOMP)Vlcg PMC7916507
Mono-ADP-Ribosylhydrolase MACROD2 Is Dispensable for Murine Responses to Metabolic and Genotoxic Insults. Frontiers in genetics (December 2018) Macrod2tm1(KOMP)Vlcg 30619475
MACROD2 Haploinsufficiency Impairs Catalytic Activity of PARP1 and Promotes Chromosome Instability and Growth of Intestinal Tumors. Cancer discovery (June 2018) Macrod2tm1.1(KOMP)Vlcg 29880585

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
Macrod2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Macrod2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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