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Gene: Mtmr3 MGI:1921552

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Gene Summary

Name:
myotubularin related protein 3
Synonyms:
ZFYVE10,  1700092A20Rik,  FYVE-DSP1

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
impaired pupillary reflex Mtmr3tm1b(EUCOMM)Hmgu HOM Early adult 2.68×10-06
decreased mean corpuscular hemoglobin Mtmr3tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal lens morphology Mtmr3tm1b(EUCOMM)Hmgu HOM Early adult 6.71×10-05
impaired glucose tolerance Mtmr3tm1b(EUCOMM)Hmgu HOM Early adult 2.09×10-09
decreased mean corpuscular volume Mtmr3tm1b(EUCOMM)Hmgu HOM   Early adult 8.87×10-08
abnormal cornea morphology Mtmr3tm1b(EUCOMM)Hmgu HOM Early adult 2.39×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.73% (4 of 545)
aorta 0.18% (1 of 541)
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
epididymis 13.08% (17 of 130)
esophagus 1.3% (5 of 384)
eye 0.0%
heart 0.37% (2 of 547)
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 555)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
skeletal muscle 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
striatum 0.37% (2 of 547)
submandibular gland 1.5% (2 of 133)
testis 1.1% (6 of 545)
thalamus 0.0%
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
trachea 0.54% (3 of 557)
urinary bladder 0.0%
uterus 0.36% (2 of 554)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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)
brain 1.18% (6 of 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

44 Images

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X-ray

XRay Images Forepaw

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Embryo LacZ

LacZ images wholemount

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

View images
X-ray

XRay Images Skull Lateral Orientation

8 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

6 Images

View images

Human diseases caused by Mtmr3 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 Mtmr3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... OMIM:217800
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... OMIM:620044
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Development... OMIM:147630
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... OMIM:618858
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... OMIM:309300
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract OMIM:273680
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Cataract 21, Multiple Types
Retinal detachment, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cherubism
Optic neuropathy, Macular scar, Marcus Gunn pupil OMIM:118400
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... OMIM:606176
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Coats Disease
Abnormal retinal vascular morphology, Abnormal macular morphology, Abnormal anterior chamber morp... ORPHA:190
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Hemochromatosis, Type 4
Glucose intolerance, Impaired glucose tolerance, Cataract, Diabetes mellitus, Anemia OMIM:606069
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal posterior eye segment morphology, Abnormal corn... ORPHA:67043
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... OMIM:193230
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Neurotrophic Keratopathy
Corneal scarring, Corneal ulceration, Corneal perforation, Allodynia, Corneal stromal edema, Recu... ORPHA:137596
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Increased circ... OMIM:144650
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Aniridia 1
Glucose intolerance, Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Chorio... OMIM:106210
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... ORPHA:171673
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Herpes Simplex Virus Stromal Keratitis
Keratitis, Corneal perforation, Corneal stromal edema, Descemet Membrane Folds, Herpetiform corne... ORPHA:137599
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Retinal dystrophy, Ir... ORPHA:231736
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia ORPHA:848
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... ORPHA:70476
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Hereditary Methemoglobinemia
Methemoglobinemia, Limb dystonia, Athetosis ORPHA:621
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Dystonia OMIM:277410
Immunodeficiency 96
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... OMIM:619774
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia, Astigmatism ORPHA:261250
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Developm... ORPHA:124
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Conjunctivitis, Keratoconjunctivitis sicca ORPHA:411777
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Methylcobalamin Deficiency Type Cble
Pancytopenia, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia ORPHA:2169
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Abnormal pupil morphology, Cystoid macular edema, Corneal stro... ORPHA:209959
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Leukopenia, Aplastic anemia, Normocytic anemia, I... ORPHA:811
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Anemia, Abnormal hemoglobin ORPHA:847
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Lead Poisoning
Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis ORPHA:330015
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:301040
Eisenmenger Syndrome
Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:97214

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 Mtmr3

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 Mtmr3.

No publications found that use IMPC mice or data for Mtmr3.

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MGI Allele Allele Type Produced
Mtmr3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mtmr3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mtmr3tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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