Gene Summary

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

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
preweaning lethality, complete penetrance Cenpetm1b(EUCOMM)Hmgu HOM   Early adult 3.18×10-05
cataract Cenpetm1b(EUCOMM)Hmgu HET   Early adult 2.06×10-05
abnormal lens morphology Cenpetm1b(EUCOMM)Hmgu HET   Early adult 1.21×10-06
increased circulating lipase level Cenpetm1b(EUCOMM)Hmgu HET Early adult 7.62×10-08
increased fasting circulating glucose level Cenpetm1b(EUCOMM)Hmgu HET Early adult 9.38×10-08

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 0.0%
aorta 0.0%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

2 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
Autosomal Recessive Primary Microcephaly
ORPHA:2512
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
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
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 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
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Trichomegaly
Cataract OMIM:190330
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Cataract 47
Cataract, Glycosuria, Microcornea OMIM:612018
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Decreased HDL cholesterol concentration, Cataract OMIM:618463
Nathalie Syndrome
Cataract ORPHA:2663
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
X-Linked Retinoschisis
Cataract ORPHA:792
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Impaired glucose tolerance, Developmental cataract, Type II diabetes mell... OMIM:147630
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration OMIM:609115
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ... OMIM:618858
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Nathalie Syndrome
Cataract OMIM:255990
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... OMIM:616329
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Reduced C-pe... OMIM:606176
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Cataract 17, Multiple Types
Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea OMIM:611544
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Hemochromatosis, Type 4
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Cataract, Increased circulati... OMIM:606069
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Retinitis Pigmentosa 40
Cataract OMIM:613801
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Elevated circulating creatine kinase concentration OMIM:615352
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c... OMIM:604307
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Hypoglycemia, Cataract ORPHA:67048
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Aniridia 3
Cataract, Aniridia OMIM:617142
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level OMIM:618856
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Cataract 48
Cataract OMIM:618415
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Congenital Varicella Syndrome
Cataract ORPHA:291
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Cataract 41
Nuclear cataract OMIM:116400
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c OMIM:609812
Retinitis Pigmentosa 9
Cataract OMIM:180104
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy, Hyperamylasemia, Hypokalemia OMIM:604278
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Galactokinase Deficiency
Hyperinsulinemia, Nuclear cataract, Increased level of galactitol in plasma, Hypergalactosemia, C... ORPHA:79237
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:146200
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract OMIM:620425
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Retinitis Pigmentosa 84
Cataract OMIM:618220
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Increased proinsul... OMIM:106210
Premature Aging Syndrome, Okamoto Type
Cataract, Diabetes mellitus OMIM:601811
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Mody
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Glycosuria,... ORPHA:552
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... OMIM:262190
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Cataract 16, Multiple Types
Lenticonus, Developmental cataract, Posterior polar cataract OMIM:613763
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Buphthalmos, Corneal scarring, Iris coloboma OMIM:212550
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Elevated circulating creatine kinase concentration ORPHA:370997
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... OMIM:221900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Hypertriglyceridemia, Decreased HDL cholesterol concent... ORPHA:247598
Ifap Syndrome 2
Cataract, Keratitis, Keratoconjunctivitis sicca OMIM:619016
Alport Syndrome 2, Autosomal Recessive
Cataract, Anterior lenticonus, Corneal erosion OMIM:203780
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fastin... ORPHA:2298
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Corneal kera... ORPHA:263479
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hyperglycemia, Type II diabetes me... OMIM:615812
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D... 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
Autosomal Recessive Primary Microcephaly
ORPHA:2512
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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