Gene Summary

Name:
mirror-image polydactyly 1
Synonyms:
1700081O04Rik,  6030439O22Rik,  D12Ertd19e

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hypoactivity Mipol1tm1b(EUCOMM)Hmgu HOM Early adult 5.29×10-05
cataract Mipol1tm1b(EUCOMM)Hmgu HOM Early adult 7.60×10-05
increased circulating lipase level Mipol1tm1b(EUCOMM)Hmgu HOM Early adult 3.46×10-05
decreased prepulse inhibition Mipol1tm1b(EUCOMM)Hmgu HOM   Early adult 5.53×10-07
increased circulating aspartate transaminase level Mipol1tm1b(EUCOMM)Hmgu HOM Early adult 3.77×10-09
abnormal lens morphology Mipol1tm1b(EUCOMM)Hmgu HOM   Early adult 5.83×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
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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
Brain  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Urinary bladder  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Chest bone N/A heterozygote 0.0% (0 of 2)
Colon N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
cranium
diaphragm 0.0%
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

Adult LacZ

LacZ Images Wholemount

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

Human diseases caused by Mipol1 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 Mipol1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Galactosemia Iv
Hypergalactosemia, Cataract OMIM:618881
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Aniridia 3
Cataract OMIM:617142
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cataract OMIM:617133
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Galactosemia Ii
Hypergalactosemia, Cataract OMIM:230200
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Dysequilibrium Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:1766
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Trichomegaly
Cataract OMIM:190330
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:2815
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Cataract OMIM:609115
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
X-Linked Retinoschisis
Cataract ORPHA:792
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Gait disturbance, Tip-toe gait, Cataract OMIM:617404
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract OMIM:600886
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract, Decreased circulating ceruloplasmin concentration OMIM:614482
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Morm Syndrome
Hyperactivity, Cataract ORPHA:75858
Pellagra-Like Syndrome
Ataxia, Cataract OMIM:260650
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Cataract OMIM:613154
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Elevated circulating creatine kinase concentration, Cataract OMIM:615352
Myopathy, Myofibrillar, 2
Elevated circulating creatine kinase concentration, Cataract OMIM:608810
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Nathalie Syndrome
Cataract OMIM:255990
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Cataract 47
Microcornea, Cataract OMIM:612018
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cataract ORPHA:3233
Peroxisome Biogenesis Disorder 9B
Ataxia, Cataract, Elevated levels of phytanic acid OMIM:614879
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Waddling gait, Cataract, Truncal ataxia, Diff... ORPHA:369840
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Cataract OMIM:278780
Cataract 11, Multiple Types
Cataract OMIM:610623
Phenylketonuria
Blue irides, Hyperphenylalaninemia, Attention deficit hyperactivity disorder, Hyperactivity, Cata... OMIM:261600
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysmetria, Dysdiadochokinesis, Cataract, Truncal ataxia, Broad-based gait, Gait ataxia OMIM:224050
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Cataract ORPHA:1875
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Cataract OMIM:615704
Galactose Mutarotase Deficiency
Hypergalactosemia, Cataract ORPHA:570422
Lissencephaly 8
Elevated circulating creatine kinase concentration, Cataract OMIM:617255
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Combined Oxidative Phosphorylation Deficiency 31
Cataract, Hyperalaninemia OMIM:617228
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Cataract, Hypocalcemia OMIM:146200
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Leber Congenital Amaurosis 1
Keratoconus, Hyperthreoninemia, Cataract OMIM:204000
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Dysmetria, Spastic gait, Ataxia, Tip-toe gait, Cataract, Difficulty walking OMIM:609195
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Proximal Myotonic Myopathy
Cataract ORPHA:606
Aniridia 2
Aniridia, Cataract OMIM:617141
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Retinitis Pigmentosa 84
Cataract OMIM:618220
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Usher Syndrome Type 3
Astigmatism, Iris hypopigmentation, Ataxia, Cataract ORPHA:231183
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Broad-based gait, Hypoalbuminemia OMIM:618805
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Congenital Varicella Syndrome
Cataract ORPHA:291
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Retinitis Pigmentosa 4
Cataract OMIM:613731
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Hemochromatosis, Type 4
Elevated transferrin saturation, Cataract, Increased circulating ferritin concentration OMIM:606069
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma ORPHA:1473
Muscle-Eye-Brain Disease
Elevated circulating creatine kinase concentration, Gait disturbance, Cataract ORPHA:588
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Dysmetria, Progressive gait ataxia, Tortuosity of conjunctival vessels, Progressive cerebellar at... ORPHA:284289
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Ataxia, Inability to walk, Cataract OMIM:608885
Retinitis Pigmentosa 2
Cataract OMIM:312600
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Cataract OMIM:615181
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Dystonia, Juvenile-Onset
Generalized dystonia, Cataract OMIM:607371
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Cataract 43
Subcapsular cataract OMIM:616279
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Galactosemia I
Hypergalactosemia, Increased level of galactitol in red blood cells, Cataract, Increased level of... OMIM:230400
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Hyperornithinemia, Cataract ORPHA:414
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Elevated circulating creatine kinase concentration, Cataract, Hyperalaninemia OMIM:615418
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Elevated circulating creatine kinase concentration, Fatigable weakness of bulbar muscles, Cataract ORPHA:363623
Congenital Bile Acid Synthesis Defect Type 4
Elevated circulating creatine kinase concentration, Ataxia, Cataract ORPHA:79095
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Cataract, Hypocalcemia, Hyperphos... ORPHA:36913
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Elevated circulating creatine kinase concentration, Buphthalmos, Cataract ORPHA:370997
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Elevated circulating creatine kinase concentration, Mildly elevated creatine kinase, Cataract, Pr... OMIM:607459
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Calcinosis, Cataract OMIM:617913
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Elevated circulating creatine kinase concentration, Buphthalmos, Cataract OMIM:616538
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Athetosis, Dystonia, Elevated circulating creatine kinase concentration, Ataxia, Inability to wal... OMIM:615356
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Transketolase Deficiency
Attention deficit hyperactivity disorder, Cataract, Elevated circulating ribitol concentration, C... ORPHA:488618
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Ifap Syndrome 2
Keratoconjunctivitis sicca, Cataract, Keratitis OMIM:619016
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Keratitis, Ataxia, Cataract, Corneal neovascularization, Conjunctivitis OMIM:278730
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Cataract, Hypermagnesemia, Lethargy ORPHA:469
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Autosomal Dominant Optic Atrophy And Cataract
Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, Ataxia, Posteri... ORPHA:67036

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 Mipol1

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 Mipol1.

No publications found that use IMPC mice or data for Mipol1.

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MGI Allele Allele Type Produced
Mipol1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mipol1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mipol1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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