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Gene: Mtpap MGI:1914690

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Gene Summary

Name:
mitochondrial poly(A) polymerase
Synonyms:
Papd1,  Tent6,  0610027A18Rik

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
hyperactivity Mtpaptm1.1(KOMP)Vlcg HET   Early adult 4.46×10-05
abnormal locomotor behavior Mtpaptm1.1(KOMP)Vlcg HET   Early adult 5.10×10-06
preweaning lethality, complete penetrance Mtpaptm1.1(KOMP)Vlcg HOM   Early adult 0.00
hydrometra Mtpaptm1.1(KOMP)Vlcg HET Early adult 0.00
enlarged heart Mtpaptm1.1(KOMP)Vlcg HET Early adult 0.00
increased erythrocyte cell number Mtpaptm1.1(KOMP)Vlcg HET   Early adult 5.78×10-05
abnormal heart morphology Mtpaptm1.1(KOMP)Vlcg HET Early adult 0.00
embryonic lethality prior to organogenesis Mtpaptm1.1(KOMP)Vlcg HOM   E9.5 0.00
small superior vagus ganglion Mtpaptm1.1(KOMP)Vlcg HET Early adult 0.00
embryonic lethality prior to tooth bud stage Mtpaptm1.1(KOMP)Vlcg HOM   E12.5 0.00

Download data as:  TSV  XLS

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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 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
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 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

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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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spastic Ataxia 4, Autosomal Recessive
Gait ataxia, Optic atrophy, Limb ataxia, Spastic ataxia OMIM:613672
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Progressive gait ataxia, Progressive cerebellar ataxia ORPHA:254343

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Ethanolaminosis
Cardiomegaly OMIM:227150
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Abnormal hear... DECIPHER:39
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Schizophrenia 15
Hyperactivity OMIM:613950
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 3
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:609820
Erythrocytosis, Familial, 1
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:133100
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... ORPHA:3202
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Atrial septal defect, Anemia, Perimembranous ventricular septal defect, Hypertrop... OMIM:620135
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Abcd Syndrome
Abnormal auditory evoked potentials, Polycythemia, Aganglionic megacolon, Total intestinal agangl... OMIM:600501
Hyperlysinemia, Type I
Hyperactivity, Anemia OMIM:238700
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Hartnup Disorder
Episodic ataxia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, Splenomegaly OMIM:237800
Hypermanganesemia With Dystonia 1
Steppage gait, Hepatomegaly, Polycythemia OMIM:613280
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Erythrocytosis, Familial, 2
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:263400
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Reticulocytosis, Ataxia, Hemolytic anemia ORPHA:33574
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, Erythroid h... OMIM:615631
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... ORPHA:766
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... OMIM:616689
Poems Syndrome
Polycythemia, Hypogonadism, Papilledema, Pericardial effusion, Thrombocytosis, Visceromegaly ORPHA:2905
Glut1 Deficiency Syndrome 2
Reticulocytosis, Ataxia, Hemolytic anemia, Splenomegaly, Choreoathetosis OMIM:612126
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Micropenis, Hemolytic anemia, Anemia, Reduced ... OMIM:613673
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Gait ataxia, Dysmetria OMIM:618090
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Attrv122I Amyloidosis
Left ventricular hypertrophy, Anemia, Cardiac amyloidosis, Abnormal autonomic nervous system phys... ORPHA:85451
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity, Patent foramen ovale OMIM:617182
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Gait disturbance, Polycythemia, Difficulty walking, Hepatomegaly, Dysdiadochokinesis, Hypertrophi... ORPHA:309854
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly, Abnormal autonomic nervous system physiology ORPHA:85447
Developmental And Epileptic Encephalopathy 109
Gait ataxia, Crouch gait, Hyperactivity, Left ventricular hypertrophy OMIM:620145
Congenital Toxoplasmosis
Cardiomegaly, Thrombocytopenia, Hepatomegaly, Anemia ORPHA:858
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Steppage gait, Testicular dysgen... ORPHA:168563
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... OMIM:618052
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Anemia, Hepatomegaly, Optic disc pallor, Facial palsy, Thrombocytopenia, Optic a... OMIM:611490
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb ataxia, Gait disturbance, Unsteady gait, Ataxia, Cardiomyopathy, Optic atrophy, Gait ataxia,... OMIM:619259
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, Spherocytos... OMIM:612690
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly OMIM:179700
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... ORPHA:3203
Amed Syndrome, Digenic
Leukopenia, Anemia, Attention deficit hyperactivity disorder, Hypoplasia of the uterus, Thrombocy... OMIM:619151
Livedoid Vasculopathy
Leukocytosis, Polycythemia, Anemia, Pancytopenia, Abnormality of the peripheral nervous system ORPHA:542643
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hyperactivity, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Left ventricular hypertrophy, Difficulty walking, Cardiomyopathy, Ventri... OMIM:300280
Neuraminidase Deficiency
Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Splen... OMIM:256550
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Truncal ataxia OMIM:619051
Hsd10 Disease, Infantile Type
Restlessness, Loss of ambulation, Optic atrophy, Dysphagia, Hypertrophic cardiomyopathy, Cardiome... ORPHA:391428
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Ogden Syndrome
Secundum atrial septal defect, Decreased testicular size, Cryptorchidism, Polycythemia, Left atri... OMIM:300855
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Steppage gait, Aortic valve stenosis, Macroorchidism, Mitral valve prolapse, C... ORPHA:324410
Fumarase Deficiency
Perimembranous ventricular septal defect, Polycythemia, Optic atrophy OMIM:606812
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:269920
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly OMIM:224100
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Patent foramen ovale, ... OMIM:618652
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Anemia of inadequate p... OMIM:224120
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, Atrial septal defect... ORPHA:860
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Cryohydrocytosis
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Exaggerated rugosity of the l... OMIM:612965
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Facial diplegia, Attention de... OMIM:617302
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy OMIM:614702
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reticulocytosis, Hemolytic anemia, Reduced erythrocyte adenosine triphosphate concentration, Stom... OMIM:301083
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Von Hippel-Lindau Disease
Myocarditis, Polycythemia, Papilledema, Cardiomyopathy, Papillary cystadenoma of the epididymis, ... ORPHA:892
Leydig Cell Hypoplasia
Cryptorchidism, Micropenis, Ambiguous genitalia, Abnormal vas deferens morphology, Abnormal inter... ORPHA:755
Hemochromatosis, Type 1
Testicular atrophy, Cardiomyopathy, Hepatomegaly, Splenomegaly, Azoospermia, Cardiomegaly, Hypogo... OMIM:235200
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Spherocytosis, Type 2
Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly OMIM:616649
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Urogenital sinus anomaly, Abnormal internal geni... OMIM:273250
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Tip-toe gait, Right ventricular hypertrophy, Dysphagia, Brachial plexus neurop... ORPHA:268
Phosphoglycerate Kinase 1 Deficiency
Ataxia, Reticulocytosis, Erythroid hyperplasia, Hemolytic anemia OMIM:300653
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis, Polycythemia OMIM:193300
Fixed Subaortic Stenosis
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... ORPHA:3092
Pseudo-Torch Syndrome 3
Congenital thrombocytopenia, Cardiomegaly, Leukocytosis, Anemia OMIM:618886
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Mulibrey Nanism
Myocardial fibrosis, Cardiomegaly, Hepatomegaly, Pericardial constriction OMIM:253250
Sickle Cell Disease
Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Cardiomegaly, Spl... OMIM:603903
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology, Cryptorchidism, Shawl scrotum, Micropenis, Hyperactivity, Ventric... OMIM:617516
Hereditary Spherocytosis
Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin concentratio... ORPHA:822
Spherocytosis, Type 4
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Hepatocellular Carcinoma
Polycythemia, Anemia, Hepatomegaly, Thrombocytopenia, Thrombocytosis ORPHA:88673
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right atrial... ORPHA:555874
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Reticulocytosis, Normocytic anemia, Normochromic anemia, Nonspherocytic hemolytic anemia, Splenom... OMIM:235700
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Reticulocytosis, Hepatomegaly, Decreased hemoglobin conce... OMIM:266200
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly, Ataxia OMIM:266500
Complete Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Femal... ORPHA:99429
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defe... OMIM:115197
Beckwith-Wiedemann Syndrome
Cryptorchidism, Polycythemia, Enlarged kidney, Gonadoblastoma, Hepatomegaly, Hypertrophic cardiom... ORPHA:116
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Left ventricular hypertrophy, Atrial septal defe... ORPHA:79330
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Ambiguous genitalia, Tetralogy of Fallot, Atrial septal defect, Ventricul... OMIM:618280
Partial Androgen Insensitivity Syndrome
Perineal hypospadias, Micropenis, Ambiguous genitalia, Fused labia majora, Clitoral hypertrophy, ... ORPHA:90797
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Ataxia, Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hy... OMIM:105210
Diethylstilbestrol Syndrome
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Testicular dys... ORPHA:1916
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... OMIM:618278
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly, Ataxia ORPHA:42
Spherocytosis, Type 1
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Gaucher Disease, Type Iiic
Hepatomegaly, Splenomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Mitral stenos... OMIM:231005
Coronary Arterial Fistula
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... ORPHA:2041
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Heinz bodies, Leukocytosis, Reticulocytosis, Po... OMIM:300908
Harderoporphyria
Hepatomegaly, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:618892
Beck-Fahrner Syndrome
Cardiomegaly, Attention deficit hyperactivity disorder, Ventricular septal defect OMIM:618798
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Iron deficiency anemia ORPHA:99931
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Increased mean corpuscular volume, Stomatocytosi... OMIM:185000
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect OMIM:601005
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Anemia, Hepatomegaly, Dysphagia, Thrombocytopenia, Akinesia, Cardiomegaly, Sp... OMIM:608013
47,Xyy Syndrome
Cryptorchidism, Hyperactivity, Micropenis, Attention deficit hyperactivity disorder, Varicocele, ... ORPHA:8
46,Xy Sex Reversal 7
Dysgerminoma, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Reticulocytosis, Ataxia, Hemolytic anemia ORPHA:713
Sandhoff Disease
Hepatosplenomegaly, Ataxia, Hepatomegaly, Orthostatic hypotension, Cardiomegaly OMIM:268800
Hereditary Elliptocytosis
Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Stomatocytosi... ORPHA:288
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Hypospadias OMIM:616897
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Cryptorchidism, Hyperactivity, Ventricular septal defect, Attention deficit hyperac... OMIM:614294
Imerslund-Gräsbeck Syndrome
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... ORPHA:35858
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Decreased mean corpuscular volume, Reticulocytosis, Hemolytic anemia OMIM:611590
Cirrhotic Cardiomyopathy
Left atrial enlargement, Left ventricular hypertrophy, Alcoholism, Hepatomegaly, Right atrial enl... ORPHA:57777
Isolated Right Ventricular Hypoplasia
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... ORPHA:439
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia,... ORPHA:760
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Asplenia, Ventricular septal defect, Atrial septal defect, Atrioventricul... OMIM:306955
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration,... OMIM:194380
Rh Deficiency Syndrome
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Hypochromia, Macrocytic anem... ORPHA:71275
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Testicular Agenesis
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... ORPHA:325124
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Perimembranous ventricular septal defect, Aortic val... ORPHA:1457
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Cardiomyopathy, Hepatomegaly, Splenomegaly, Cardiomegaly, Hypogonadotropic hy... ORPHA:465508
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
46,Xx Sex Reversal 2
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... OMIM:278850
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Inability to walk, Atrial septal defect, Ventricular septal defect... OMIM:620066
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Left ventricular hypertrophy OMIM:617713
Mucopolysaccharidosis Type 3
Gait disturbance, Hyperactivity, Ataxia, Disinhibition, Abnormal mitral valve morphology, Loss of... ORPHA:581
Sitosterolemia 1
Episodic hemolytic anemia, Reticulocytosis, Anemia, Giant platelets, Stomatocytosis, Thrombocytop... OMIM:210250
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:201475
Abetalipoproteinemia
Reticulocytosis, Ataxia, Anemia, Steppage gait, Hepatomegaly, Acanthocytosis, Gait ataxia, Cardio... ORPHA:14
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Inability to walk, Gait disturbance, Ataxia, Hepatomegaly, Cardiomegaly OMIM:618143
Craniofaciofrontodigital Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, Bicuspid aortic... ORPHA:363705
Thrombocytopenia-Absent Radius Syndrome
Abnormal cardiac septum morphology, Thrombocytopenia, Aplasia of the uterus, Tetralogy of Fallot ORPHA:3320
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Micropenis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defec... OMIM:602782
Leukocyte Adhesion Deficiency
Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Abnormality of neutrophil physiology,... ORPHA:2968
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Aplasia of the uterus, Hydrocele testis OMIM:266810
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dysdiadochokinesis, Dysphagia, Gait ataxia, Impulsivity, Optic atrophy, Dysmetria OMIM:610217
Fucosidosis
Vacuolated lymphocytes, Hepatomegaly, Spastic gait, Cardiomegaly, Splenomegaly OMIM:230000
Complete Atrioventricular Septal Defect
Abnormal cardiac atrium morphology, Primum atrial septal defect, Hepatomegaly, Complete atriovent... ORPHA:1329
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial fibrosis, Ca... OMIM:300257
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Septate vagina, Pseudopapilledema, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Micropenis, Ambiguous genitalia, male, Precocious puberty in females, Female external genitalia i... ORPHA:90793
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Ataxia, Atrial septal defect, Vent... OMIM:300967
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Septate vagina, Vaginal atresia, Uterus didelphys, Aplasia of the uterus ORPHA:2237
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Abnormal h... OMIM:601214
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Lumbar Syndrome
Cryptorchidism, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bifid uterus, Bifid sc... ORPHA:83628
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Ambiguous genitalia, ... ORPHA:168558
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Splenomegaly, Difficulty walking OMIM:232300
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Ambiguous genitalia, ... ORPHA:289548
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney OMIM:608836
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Increased myocardial glycogen content, Cardiomyopathy, Biventricular hypertrophy... OMIM:261740
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Ventricular septal defect, Hepatomegaly, Cardiomegaly, Labial hypertrophy, Precoc... ORPHA:96191
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect OMIM:614921
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale, ... OMIM:245600
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Legius Syndrome
Acute monocytic leukemia, Hyperactivity, Pulmonic stenosis, Vestibular schwannoma, Attention defi... ORPHA:137605
Glycogen Storage Disease Due To Acid Maltase Deficiency
Inability to walk, Difficulty walking, Left ventricular hypertrophy, Hepatomegaly, Dysphagia, Hyp... ORPHA:365
Histiocytoid Cardiomyopathy
Ventricular septal defect, Polycystic ovaries, Hepatomegaly, Optic atrophy, Cardiomegaly ORPHA:137675
Truncus Arteriosus
Hypoplasia of the thymus, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Ventricul... ORPHA:3384
Telangiectasia, Hereditary Hemorrhagic, Type 2
Polycythemia, Anemia OMIM:600376
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly ORPHA:228308
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Meckel Syndrome 14
Single ventricle, Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Hyperactivity, Optic nerve hypoplasia, Aplasia of the uterus ORPHA:457284
Beckwith-Wiedemann Syndrome
Cryptorchidism, Enlarged kidney, Gonadoblastoma, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Over... OMIM:130650
Congenital Tracheomalacia
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... ORPHA:95430
Fanconi Anemia, Complementation Group L
Attention deficit hyperactivity disorder, Aplasia of the uterus, Micropenis, Anemia OMIM:614083
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Tip-toe gait, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:252500
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Anemia, Ventricular septal defect, Atrial septal defect, Tetral... OMIM:274000
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart mor... ORPHA:980
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Micropenis, Difficulty walking, Chronic lymphatic leukemia, Neonatal alloimmu... ORPHA:51
Telangiectasia, Hereditary Hemorrhagic, Type 1
Polycythemia, Anemia OMIM:187300
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly, Inability to walk, Optic atrophy ORPHA:97297
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Hepatomegaly, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Oeis Complex
Absent scrotum, Cryptorchidism, Micropenis, Ambiguous genitalia, male, Epispadias, Labial hypopla... OMIM:258040
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Pontocerebellar Hypoplasia Type 7
Cryptorchidism, Micropenis, Ambiguous genitalia, Microphallus, Clitoral hypertrophy, Abnormal scr... ORPHA:284339
Williams Syndrome
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Gait imbalance, Hypertrophi... ORPHA:904
Liver Disease, Severe Congenital
Leukopenia, Left atrial enlargement, Anemia, Ventricular septal defect, Atrial septal defect, Hep... OMIM:619991
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Unicornuate uterus, Aplasia of the vagina, Pica, Aplasia of the uterus OMIM:614527
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Testicular adrenal rest tumor, Decreased testicular size, Ambiguous genitalia, Fused labia majora... ORPHA:90794
Kasabach-Merritt Syndrome
Reticulocytosis, Microangiopathic hemolytic anemia, Leukopenia, Anemia, Thrombocytopenia, Neutrop... ORPHA:2330
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Atrial s... ORPHA:99125
Yunis-Varon Syndrome
Cryptorchidism, Micropenis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot,... ORPHA:3472
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Right ventricular cardiomyopathy, Coronary artery stenosis, Hepatomegaly... ORPHA:75565
Okamoto Syndrome
Abnormal left ventricle morphology, Ventricular septal defect, Abnormal mitral valve morphology, ... ORPHA:2729
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid penis, Penoscrotal transposition, Epispadias, Abnormal heart morphology, Ab... ORPHA:322
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Microcytic anemia, Thrombocytopenia, Cardiomegaly, Splenomegaly, Epididymitis OMIM:256040
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Absent external genitalia, Aplasia of the uterus OMIM:271520
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Paroxysmal Nocturnal Hemoglobinuria
Reticulocytosis, Leukopenia, Hemolytic anemia, Anemia, Dysphagia, Thrombocytopenia, Pancytopenia,... ORPHA:447
Histidinemia
Hyperactivity ORPHA:2157
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cervical insufficiency, Anemia, Uterine rupture, Cystocele, Mitral valve prolapse... OMIM:130050
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Hydrolethalus Syndrome 1
Ventricular septal defect, Complete atrioventricular canal defect, Bifid uterus, Accessory spleen... OMIM:236680
Coffin-Siris Syndrome 1
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Clitoral hypertrophy, Tetralogy ... OMIM:135900
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Wolf-Hirschhorn Syndrome
Cryptorchidism, Precocious puberty, Atrial septal defect, Ventricular septal defect, Accessory sp... OMIM:194190
Townes-Brocks Syndrome 1
Rectoperineal fistula, Cryptorchidism, Atrial septal defect, Tetralogy of Fallot, Ventricular sep... OMIM:107480
Neu-Laxova Syndrome 1
Cryptorchidism, Ventricular septal defect, Bifid uterus, Patent foramen ovale, Transposition of t... OMIM:256520
Limb-Mammary Syndrome
Aplasia of the ovary, Aplasia of the uterus ORPHA:69085
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve stenosis, Waddling gait, Ca... OMIM:182250
Norrie Disease
Optic atrophy, Attention deficit hyperactivity disorder, Cryptorchidism, Uterine rupture ORPHA:649
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Pericardial effusion, Myocardial calcification, Ventricular hypertrophy ORPHA:51608
Spastic Ataxia 4, Autosomal Recessive
Gait ataxia, Optic atrophy, Limb ataxia, Spastic ataxia OMIM:613672
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Abnormal heart valve morphology, Uterine rupture, Cystocele, Mitral valve prolaps... ORPHA:286
Pallister-Killian Syndrome
Cryptorchidism, Inability to walk, Atrial septal defect, Ventricular septal defect, Labial hypopl... OMIM:601803
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Small scrotum, Hypospadias OMIM:276820
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Progressive gait ataxia, Progressive cerebellar ataxia ORPHA:254343

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 Mtpap

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 Mtpap.

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

Title Journal IMPC Allele PubMed ID
Nuclear-encoded mitochondrial ribosomal proteins are required to initiate gastrulation. Development (Cambridge, England) (May 2020) Mtpaptm1.1(KOMP)Vlcg 32376682

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mtpaptm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mtpaptm80438(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mtpaptm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mtpaptm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Mtpaptm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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