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Gene: Cenpe MGI:1098230

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Gene Summary

Name:
centromere protein E
Synonyms:
312kDa,  CENP-E,  N-7 kinesin,  Kif10

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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
abnormal lens morphology Cenpetm1b(EUCOMM)Hmgu HET   Early adult 3.08×10-06
increased fasting circulating glucose level Cenpetm1b(EUCOMM)Hmgu HET Early adult 8.44×10-08
preweaning lethality, complete penetrance Cenpetm1b(EUCOMM)Hmgu HOM   Early adult 3.18×10-05
cataract Cenpetm1b(EUCOMM)Hmgu HET   Early adult 7.14×10-05
increased circulating lipase level Cenpetm1b(EUCOMM)Hmgu HET Early adult 7.62×10-08

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
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  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)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
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)
Stomach 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)
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)
Urinary bladder 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 0.72% (4 of 555)
aorta 0.18% (1 of 541)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cecum 5.65% (20 of 354)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
chest bone Unavailable
colon 16.8% (21 of 125)
cranium
diaphragm 0.0%
epididymis 12.78% (17 of 133)
esophagus 1.8% (7 of 388)
eye 0.0%
gall bladder 0.0%
harderian gland 0.81% (1 of 124)
heart 0.37% (2 of 535)
hindlimb 0.0%
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.34% (1 of 294)
olfactory lobe 0.37% (2 of 543)
oral epithelium 0.0%
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
parathyroid gland 0.19% (1 of 526)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
stomach pyloric region 0.0%
striatum 0.56% (3 of 540)
sublingual gland 0.0%
submandibular gland 1.46% (2 of 137)
testis 1.09% (6 of 552)
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
tongue 3.82% (5 of 131)
trachea 0.56% (3 of 532)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.37% (2 of 535)
vagina 0.0%
vas deferens 4.49% (16 of 356)
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

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Adult LacZ

LacZ Images Wholemount

2 Images

View images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Seckel Syndrome
ORPHA:808
Microcephaly 13, Primary, Autosomal Recessive
OMIM:616051

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
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
Cataract 45
Developmental cataract OMIM:616851
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 38
Developmental cataract OMIM:614691
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Aniridia 3
Cataract OMIM:617142
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Trichomegaly
Cataract OMIM:190330
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Nathalie Syndrome
Cataract ORPHA:2663
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
X-Linked Retinoschisis
Cataract ORPHA:792
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration, Pulverulent cataract, Nuclear cataract OMIM:600886
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Development... OMIM:147630
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Cataract OMIM:609115
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... OMIM:618858
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Nathalie Syndrome
Cataract OMIM:255990
Cardiomyopathy, Dilated, 1Ii
Elevated circulating creatine kinase concentration, Cataract OMIM:615184
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Proximal Myotonic Myopathy
Cataract ORPHA:606
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Cataract 11, Multiple Types
Cataract OMIM:610623
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract, Decreased circulating ceruloplasmin concentration OMIM:614482
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... OMIM:606176
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Impaired glucose tolerance, Ca... OMIM:606069
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Retinitis Pigmentosa 84
Cataract OMIM:618220
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Cataract 17, Multiple Types
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea OMIM:611544
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Cataract OMIM:613154
Retinitis Pigmentosa 40
Cataract OMIM:613801
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Kahrizi Syndrome
Iris coloboma, Cataract OMIM:612713
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Myopathy, Myofibrillar, 2
Elevated circulating creatine kinase concentration, Cataract OMIM:608810
Pellagra-Like Syndrome
Cataract OMIM:260650
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Elevated circulating creatine kinase concentration, Cataract OMIM:615352
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Iris hypopigmentation, Cataract ORPHA:67048
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Isolated Aniridia
Peters anomaly, Cataract, Aniridia ORPHA:250923
Intellectual Disability-Cataracts-Kyphosis Syndrome
Iris coloboma, Cataract ORPHA:171860
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Combined Oxidative Phosphorylation Deficiency 31
Hyperalaninemia, Cataract OMIM:617228
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Congenital Varicella Syndrome
Cataract ORPHA:291
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Retinitis Pigmentosa 4
Cataract OMIM:613731
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Cataract OMIM:615704
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract OMIM:120433
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Cataract 30, Multiple Types
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract OMIM:116300
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus OMIM:222100
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Hypokalemia, Band keratopathy, Hyperamylasemia OMIM:604278
Peroxisome Biogenesis Disorder 9B
Elevated levels of phytanic acid, Cataract OMIM:614879
Retinitis Pigmentosa 9
Cataract OMIM:180104
Galactokinase Deficiency
Hyperinsulinemia, Nuclear cataract, Increased level of galactitol in plasma, Hypergalactosemia, H... ORPHA:79237
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Cataract, Hypocalcemic seizures OMIM:146200
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Achromatopsia 3
Cataract OMIM:262300
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Decreased HDL cholesterol concentration, Maternal di... OMIM:604367
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Premature Aging Syndrome, Okamoto Type
Cataract, Diabetes mellitus OMIM:601811
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Aniridia 1
Glucose intolerance, Corneal neovascularization, Ectopia pupillae, Opacification of the corneal s... OMIM:106210
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Lens subluxation, Cataract OMIM:216820
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Bardet-Biedl Syndrome 9
Cataract, Hyperglycemia, Astigmatism OMIM:615986
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Hyperornithinemia, Cataract ORPHA:414
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Familial Isolated Hypoparathyroidism
Hypocalcemia, Cataract ORPHA:2238
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Elevated circulating creatine kinase concentration, Cataract ORPHA:370997
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... ORPHA:2298
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... OMIM:612109
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle OMIM:227646
Microcephaly 13, Primary, Autosomal Recessive
OMIM:616051
Seckel Syndrome
ORPHA:808

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 Cenpe

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 Cenpe.

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

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MGI Allele Allele Type Produced
Cenpetm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cenpetm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cenpetm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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