Gene Summary

Name:
myosin XVIIIA
Synonyms:
MyoPDZ

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
pallor Myo18atm1b(KOMP)Wtsi HOM E12.5 0.00
preweaning lethality, complete penetrance Myo18atm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal embryo size Myo18atm1b(KOMP)Wtsi HOM E12.5 0.00
pale yolk sac Myo18atm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal limb bud morphology Myo18atm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal placenta size Myo18atm1b(KOMP)Wtsi HOM E12.5 0.00
increased monocyte cell number Myo18atm1b(KOMP)Wtsi HET   Early adult 8.39×10-06
pale liver Myo18atm1b(KOMP)Wtsi HOM E12.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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)
N/A Ambiguous
Brain N/A heterozygote 33.33% (2 of 6)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 33.33% (2 of 6)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 33.33% (2 of 6)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 33.33% (2 of 6)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 33.33% (2 of 6)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 33.33% (2 of 6)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 33.33% (2 of 6)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Handplate N/A heterozygote 33.33% (2 of 6)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 6)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 33.33% (2 of 6)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 33.33% (2 of 6)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 33.33% (2 of 6)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 6)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 6)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 6)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 6)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 33.33% (2 of 6)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 6)
Oral cavity N/A homozygote Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 33.33% (2 of 6)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 33.33% (2 of 6)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 6)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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 0.0%
brain 0.7% (2 of 287)
central nervous system ganglion 2.08% (1 of 48)
ear 0.0%
embryo 0.36% (1 of 281)
eye 0.35% (1 of 288)
footplate 0.0%
forebrain 0.35% (1 of 289)
forelimb 0.31% (1 of 323)
gut 3.12% (1 of 32)
handplate 0.33% (1 of 303)
head 1.03% (3 of 292)
heart 0.0%
hindbrain 1.41% (4 of 284)
hindlimb 0.36% (1 of 280)
liver 0.33% (1 of 303)
lung 0.34% (1 of 293)
mandibular process 0.36% (1 of 276)
maxillary process 0.37% (1 of 273)
midbrain 0.34% (1 of 293)
nose 2% (1 of 50)
oral cavity 0.0%
skeleton 2.08% (1 of 48)
skin 0.0%
spinal cord 0.0%
tail 0.0%
tail somite group 0.35% (1 of 286)
trachea 0.0%
urinary system 2.63% (1 of 38)

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

246 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Slit Lamp

1 Images

Histopathology

Images

1 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Human diseases caused by Myo18a 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 Myo18a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal amyotrophy,... OMIM:605820
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Refractory anemia, Monocytosis OMIM:616871
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Splenomegaly, Hepatomegaly ORPHA:46532
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Retinitis Pigmentosa 42
Pallor OMIM:612943
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Retinitis Pigmentosa 81
Pallor OMIM:617871
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Retinitis Pigmentosa 60
Pallor OMIM:613983
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Ankle flexion co... OMIM:617072
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Abnormal muscle fiber morphology ORPHA:270
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Shoulder girdle muscle wea... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalities,... OMIM:253601
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Optic Atrophy 9
Pallor OMIM:616289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly ORPHA:228312
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Retinitis Pigmentosa 70
Pallor OMIM:615922
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Thrombocytopenia OMIM:619644
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Splenomegaly, Hepatomegaly OMIM:615234
X-Linked Sideroblastic Anemia
Pallor, Splenomegaly, Elevated hepatic transaminase ORPHA:75563
Breath-Holding Spells
Pallor OMIM:607578
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Hepatomegaly, Jaundice, Pallor, Syndactyly OMIM:615631
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Myopathy, Abnormal muscl... OMIM:123320
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Retinitis Pigmentosa 73
Pallor OMIM:616544
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Myopathy, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Retinitis Pigmentosa 27
Pallor OMIM:613750
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia of the thymus... OMIM:612541
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Beta-Thalassemia
Cholelithiasis, Splenomegaly, Hepatomegaly, Hepatitis, Pallor, Skin ulcer ORPHA:848
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Hepatomegaly, Jaundice OMIM:613839
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Pallor, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia ORPHA:276575
Senior-Loken Syndrome 8
Pallor, Hepatic cysts, Pancreatic cysts OMIM:616307
Elliptocytosis 1
Pallor, Splenomegaly, Jaundice OMIM:611804
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276556
Myelofibrosis
Pallor, Purpura, Splenomegaly OMIM:254450
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Hb Bart'S Hydrops Fetalis
Pallor, Splenomegaly, Hepatomegaly ORPHA:163596
Evans Syndrome
Pallor, Petechiae, Jaundice ORPHA:1959
Leishmaniasis
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Pallor, Skin ulcer ORPHA:507
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276580
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Cold Agglutinin Disease
Pallor, Splenomegaly, Hepatomegaly ORPHA:56425
Primary Myelofibrosis
Petechiae, Hepatosplenomegaly, Portal hypertension, Ecchymosis, Splenomegaly, Hepatomegaly, Pallo... ORPHA:824
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Pallor, Decreased liver function, S... ORPHA:231222
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Hepatitis, Pallor OMIM:194380
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Hepatomegaly ORPHA:324575
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Myopathic Ehlers-Danlos Syndrome
Tapered finger, Adducted thumb, Pallor, Talipes equinovarus, Congenital finger flexion contractures ORPHA:536516
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:90037
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Hyperinsulinism Due To Hnf4A Deficiency
Increased hepatic glycogen content, Pancreatic islet-cell hyperplasia, Hepatomegaly, Elevated hep... ORPHA:263455
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Retinitis Pigmentosa 51
Pallor OMIM:613464
Dominant Beta-Thalassemia
Bowing of the long bones, Hepatosplenomegaly, Pallor, Chronic hepatitis, Splenomegaly, Genu valgu... ORPHA:231226
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Splenomegaly, Hepatomegaly ORPHA:3226
Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:98375
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Splenomegaly, Jaundice ORPHA:90033
Acquired Idiopathic Sideroblastic Anemia
Pallor, Splenomegaly, Hepatomegaly ORPHA:75564
American Trypanosomiasis
Pallor, Splenomegaly, Hepatomegaly ORPHA:3386
Hereditary Spherocytosis
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Pallor, Skin ulcer ORPHA:822
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Beta-Thalassemia Major
Bowing of the long bones, Hepatosplenomegaly, Pallor, Splenomegaly, Hepatomegaly, Jaundice, Genu ... ORPHA:231214
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Hepatomegaly OMIM:246450
Idiopathic Pulmonary Hemosiderosis
Pallor, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Retinitis Pigmentosa 75
Pallor OMIM:617023
Fanconi Anemia, Complementation Group I
Absent thumb, Intrauterine growth retardation, Short thumb, Hypoplasia of the radius, Short 1st m... OMIM:609053
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Jaundice OMIM:246400
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Dravet Syndrome
Pallor, Tibial torsion ORPHA:33069
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:348
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor, Elevated hepatic iron concentration, Hepatosplenomegaly, Elevated hepatic transaminase ORPHA:300298
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Fumarase Deficiency
Pallor, Hepatic failure, Cholestasis OMIM:606812
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Elevated hepatic transaminase ORPHA:98870
Sepsis In Premature Infants
Petechiae, Decreased liver function, Hepatomegaly, Jaundice, Splenomegaly, Pallor, Purpura ORPHA:90051
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor, Prolonged neonatal jaundice, Splenomegaly OMIM:300908
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Pallor, Elevated hepatic transaminase, Hepatomegaly ORPHA:331206
Rheumatic Fever
Pallor, Erythema ORPHA:3099
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Rare Circulatory System Disease
Pallor, Abnormality of finger, Abnormal metatarsal morphology, Abnormal hand morphology ORPHA:98028
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Tay-Sachs Disease
Pallor OMIM:272800
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Lipid accumulation in hepatocytes, Hepatomegaly, Jaundice, Elevated hepatic t... ORPHA:20
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatic failure, Macronodular cirrhosis, Erythema, Hepatomegal... OMIM:557000
Waldenström Macroglobulinemia
Pallor, Purpura, Splenomegaly, Hepatomegaly ORPHA:33226
Beta-Ketothiolase Deficiency
Pallor, Hepatomegaly ORPHA:134
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Splenomegaly, Hepatomegaly ORPHA:98849
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Idiopathic Hypereosinophilic Syndrome
Clubbing, Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Cholangitis, Chronic h... ORPHA:3260
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Aregenerative Anemia
Pallor ORPHA:101096
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Adenohypophysitis
Pallor ORPHA:95512
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Panhypophysitis
Pallor ORPHA:95513
Prolactinoma
Pallor ORPHA:2965
Degcags Syndrome
Toe syndactyly, Hepatosplenomegaly, Intrauterine growth retardation, Cholestasis, Short thumb, He... OMIM:619488
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Fanconi Anemia, Complementation Group C
Absent thumb, Anemic pallor, Intrauterine growth retardation, Absent radius, Short thumb, Complet... OMIM:227645
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Incontinentia Pigmenti
Pallor, Erythema OMIM:308300
Diamond-Blackfan Anemia 1
Absent thumb, Intrauterine growth retardation, Partial duplication of thumb phalanx, Triphalangea... OMIM:105650
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Splenomegaly, Hepatomegaly, Abnormality of the metaphysis, Pallor ORPHA:667
Fanconi Anemia, Complementation Group E
Absent thumb, Anemic pallor, Absent radius, Short thumb, Complete duplication of thumb phalanx OMIM:600901
Fanconi Anemia, Complementation Group D2
Absent thumb, Anemic pallor, Absent radius, Partial duplication of thumb phalanx, Short thumb, Pr... OMIM:227646
Fanconi Anemia, Complementation Group A
Absent thumb, Anemic pallor, Absent radius, Short thumb, Complete duplication of thumb phalanx OMIM:227650
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Histiocytoid Cardiomyopathy
Pallor, Hepatomegaly ORPHA:137675
Multiple Endocrine Neoplasia Type 2
Pallor, Neoplasm of the liver ORPHA:653
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Von Hippel-Lindau Disease
Pallor, Pancreatic islet cell adenoma, Pancreatic cysts, Neoplasm of the pancreas ORPHA:892
Esophageal Atresia
Pallor, Clinodactyly ORPHA:1199
Infection-Related Hemolytic Uremic Syndrome
Pallor, Pancreatitis ORPHA:544482
Blackfan-Diamond Anemia
Absent thumb, Partial duplication of thumb phalanx, Triphalangeal thumb, Short thumb, Pallor ORPHA:124
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Pallor, Hepatomegaly ORPHA:99125

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 Myo18a

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 Myo18a.

No publications found that use IMPC mice or data for Myo18a.

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MGI Allele Allele Type Produced
Myo18atm119203(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Myo18atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Myo18atm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Myo18atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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