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Gene: Uhrf2 MGI:1923718

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Gene Summary

Name:
ubiquitin-like, containing PHD and RING finger domains 2
Synonyms:
2310065A22Rik,  D130071B19Rik,  Nirf

Order Alleles

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
increased total body fat amount Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult 3.85×10-09
preweaning lethality, incomplete penetrance Uhrf2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
female infertility Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased bone mineral content Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult 3.48×10-09
decreased lean body mass Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult 1.03×10-06
increased leukocyte cell number Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult 4.39×10-05
hyperactivity Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult 9.96×10-06
prolonged RR interval Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult 4.13×10-07
decreased heart rate Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult 6.84×10-06
decreased body length Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult 3.32×10-11
increased circulating alkaline phosphatase level Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult 2.35×10-06
decreased bone mineral density Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult 1.82×10-06
abnormal bone structure Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult 2.07×10-08
increased lymphocyte cell number Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult 5.85×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (1 of 1)
Axial skeleton N/A homozygote 100% (1 of 1)
Brain N/A heterozygote 33.33% (1 of 3)
Brain N/A homozygote 33.33% (1 of 3)
Central nervous system ganglion N/A heterozygote 100% (1 of 1)
Central nervous system ganglion N/A homozygote 100% (1 of 1)
Ear N/A heterozygote 33.33% (1 of 3)
Ear N/A homozygote 33.33% (1 of 3)
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote 100% (3 of 3)
Eye N/A heterozygote 33.33% (1 of 3)
Eye N/A homozygote 33.33% (1 of 3)
Footplate N/A heterozygote 33.33% (1 of 3)
Footplate N/A homozygote 33.33% (1 of 3)
Forebrain N/A heterozygote 33.33% (1 of 3)
Forebrain N/A homozygote 33.33% (1 of 3)
Forelimb N/A heterozygote 33.33% (1 of 3)
Forelimb N/A homozygote 33.33% (1 of 3)
Gut N/A heterozygote 100% (1 of 1)
Gut N/A homozygote 100% (1 of 1)
Handplate N/A heterozygote 33.33% (1 of 3)
Handplate N/A homozygote 33.33% (1 of 3)
Head N/A heterozygote 33.33% (1 of 3)
Head N/A homozygote 33.33% (1 of 3)
Heart N/A heterozygote 33.33% (1 of 3)
Heart N/A homozygote 33.33% (1 of 3)
Hindbrain N/A heterozygote 33.33% (1 of 3)
Hindbrain N/A homozygote 33.33% (1 of 3)
Hindlimb N/A heterozygote 33.33% (1 of 3)
Hindlimb N/A homozygote 33.33% (1 of 3)
Liver N/A heterozygote 33.33% (1 of 3)
Liver N/A homozygote 33.33% (1 of 3)
Lung N/A heterozygote 33.33% (1 of 3)
Lung N/A homozygote 33.33% (1 of 3)
Mandibular process N/A heterozygote 33.33% (1 of 3)
Mandibular process N/A homozygote 33.33% (1 of 3)
Maxillary process N/A heterozygote 33.33% (1 of 3)
Maxillary process N/A homozygote 33.33% (1 of 3)
Midbrain N/A heterozygote 33.33% (1 of 3)
Midbrain N/A homozygote 33.33% (1 of 3)
Nose N/A heterozygote 100% (1 of 1)
Nose N/A homozygote 100% (1 of 1)
Oral cavity N/A heterozygote 33.33% (1 of 3)
Oral cavity N/A homozygote 33.33% (1 of 3)
Chorioallantoic placenta N/A heterozygote 100% (1 of 1)
Chorioallantoic placenta N/A homozygote 100% (1 of 1)
Skeleton N/A heterozygote 100% (1 of 1)
Skeleton N/A homozygote 100% (1 of 1)
Skin N/A heterozygote 33.33% (1 of 3)
Skin N/A homozygote 33.33% (1 of 3)
Spinal cord N/A heterozygote 100% (1 of 1)
Spinal cord N/A homozygote 100% (1 of 1)
Tail somite N/A heterozygote 33.33% (1 of 3)
Tail somite N/A homozygote 33.33% (1 of 3)
Tail N/A heterozygote 33.33% (1 of 3)
Tail N/A homozygote 33.33% (1 of 3)
Trachea N/A heterozygote 100% (1 of 1)
Trachea N/A homozygote 100% (1 of 1)
Urinary system N/A heterozygote 100% (1 of 1)
Urinary system N/A homozygote 100% (1 of 1)

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

Anatomy Background staining in controls (WT)

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

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 Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Gross Pathology and Tissue Collection

Images

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Embryo LacZ

LacZ images wholemount

24 Images

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Histopathology

Images

2 Images

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Download thumbnail Download
Immunophenotyping

Panel B FCS file(s)

6 Images

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Download thumbnail Download
Immunophenotyping

Panel A FCS file(s)

6 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

View images

Human diseases caused by Uhrf2 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 Uhrf2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea OMIM:300604
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Mildly elevated creatine kinase, Neonatal death, Dysphagia, Bradycardia OMIM:620265
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradycardia OMIM:617182
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Decreased body weight, Pul... OMIM:616201
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, ... ORPHA:95717
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Bradycardia, Cardiac arrest, Hypertrophic cardiomy... OMIM:618235
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hypertriglyceridemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Elevat... OMIM:613327
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia, Hyperalaninemia, Failure to thrive, Decreased plasma free ... OMIM:619048
Coenzyme Q10 Deficiency, Primary, 7
Dysphagia, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Glycogen Storage Disease Iv
Abnormal circulating creatine kinase concentration, Bradycardia, Cardiomyopathy, Portal hypertens... OMIM:232500
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension, Increased total bilirubin, Hyperglutaminemia, Hyper... OMIM:616299
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Glutamine Deficiency, Congenital
Bradycardia, Camptodactyly, Hyperammonemia, Neonatal death, Flexion contracture, Hypoglutaminemia OMIM:610015
Atrial Standstill 2
Scarring, Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Absent P wave, P... OMIM:615745
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Absent ossification of capital femora... ORPHA:226313
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure to thrive, Hyperammonemia, Sma... OMIM:614702
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Elev... OMIM:212138
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Bradycardia, Cardiomyopathy, Dysphagia, Hypogonadism, Arrhythmia OMIM:609286
Familial Thyroid Dyshormonogenesis
Bradycardia, Abnormal circulating thyroglobulin concentration, Delayed proximal femoral epiphysea... ORPHA:95716
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi... ORPHA:101016
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Tetanus
Stiff neck, Bradycardia, Hypertension, Elevated circulating creatine kinase concentration, Dyspha... ORPHA:3299
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Failure to thrive, Joint contracture of the 5th finger, Bradycardia OMIM:614407
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Congenital Myopathy 22A, Classic
Bradycardia, Osteoporosis, Congenital finger flexion contractures, Tricuspid regurgitation, Hip c... OMIM:620351
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Neuroleptic Malignant Syndrome
Hyperkalemia, Pulmonary embolism, Agitation, Bradycardia, Hypocalcemia, Hyperuricemia, Hypertensi... ORPHA:94093
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia OMIM:614654
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, Atrioventricul... OMIM:601005
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Necrotizing Enterocolitis
Shock, Bradycardia, Leukocytosis, Hypotension, Hyponatremia, Thrombocytopenia, Small for gestatio... ORPHA:391673
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Bradycardia, Elevated circulating creatine kin... OMIM:618775
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Inguinal hernia, Bradycardia OMIM:614498
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval ORPHA:542306
Sepsis In Premature Infants
Anemia, Elevated circulating C-reactive protein concentration, Bradycardia, Decreased body weight... ORPHA:90051
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... OMIM:308240
Lujo Hemorrhagic Fever
Myocarditis, Stiff neck, Elevated circulating C-reactive protein concentration, Bradycardia, Leuk... ORPHA:319213
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Abnormal circulating thyroglobulin concentration, Failure to thrive, Delayed proxima... ORPHA:90674
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Marburg Hemorrhagic Fever
Bradycardia, Reticulocytosis, Pericarditis, Hyperammonemia, Leukopenia, Lymphopenia, Elevated cir... ORPHA:99826
Aggressive Systemic Mastocytosis
Anorexia, Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Osteolys... ORPHA:98850
D-Glyceric Aciduria
Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Tongue thrusting, Brad... OMIM:220120
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Acquired Partial Lipodystrophy
Lymphocytosis, Lipoatrophy ORPHA:79087
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Increased circulating thyroglobulin concentration, Delayed proximal femoral epiphyse... ORPHA:90673
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxis, Diffuse alveolar hem... ORPHA:99827
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Mitochondrial Complex I Deficiency, Nuclear Type 37
Inguinal hernia, Failure to thrive, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Sheehan Syndrome
Amenorrhea, Orthostatic hypotension, Normochromic anemia, Bradycardia, Dyspareunia, Impotence, Ol... ORPHA:91355
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Bradycardia, Hyperhomocystinemia, Megaloblastic anemia, Cardiac arrest, H... OMIM:277400
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Elevated circulating creatine kinase concentration, Sinus bradycardia, Syncope, Palpitations, Sec... OMIM:616812
Pseudo-Torch Syndrome 2
Thrombocytopenia, Cerebral hemorrhage, Bradycardia OMIM:617397
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia ORPHA:40366
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Premature ovarian insufficiency, Elevated circulating creatine kinase concentr... OMIM:619518
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Heart murmur, Mobitz I atrioventricular block, Aortic regurgitati... ORPHA:216694
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Bradycardia, Jaw claudication, Weight loss, Syncope ORPHA:221098
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancyto... ORPHA:75564
Aromatase Deficiency
Osteopenia, Male infertility, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Hype... ORPHA:91
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Facial ... OMIM:620141
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Proximal Spinal Muscular Atrophy
Bradycardia, Elbow flexion contracture, Dysphagia, Flexion contracture, Knee flexion contracture,... ORPHA:70
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, Abnormality of iron homeostasis, Anemia of inadequate p... ORPHA:231222
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Bradycardia ORPHA:565624
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Dilated cardiomyopathy, Increased circulating free fatty acid level, Bradycardia OMIM:610768
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Corneal scarring, Retinal hemorrhage, Flexion contracture, Limited hip... OMIM:614653
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... OMIM:263300
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Obesity, Female infer... ORPHA:261529
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Impulsivity, Sinus bradycardia, Joint hypermobility, Mitral regurgitatio... OMIM:261990
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Epistaxis, Extramedullary ... OMIM:612840
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle... ORPHA:563
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Splenomegaly, Acute myelomono... ORPHA:86843
Yellow Fever
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Hyperbiliru... ORPHA:99829
Acute Monoblastic/Monocytic Leukemia
Anorexia, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Weight loss, Hypochromic... ORPHA:514
Pediatric-Onset Graves Disease
Polydipsia, Congestive heart failure, Craniosynostosis, Hyperactivity, Neutropenia in presence of... ORPHA:525731
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Inguinal hernia, Hyperactivity, Asymmetric septal hypertrophy, Joint stiffness, S... OMIM:252900
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... ORPHA:232
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote... OMIM:617099
Encephalitis Lethargica
Stiff neck, Bradycardia ORPHA:83600
Combined Oxidative Phosphorylation Deficiency 39
Congenital contracture, Joint contracture, Sinus bradycardia, Flexion contracture, Arthrogryposis... OMIM:618397
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Failure to thrive, Neonatal death, Dysphagia, Neutropenia OMIM:617248
Polycythemia Vera
Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, M... ORPHA:729
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Severe Generalized Junctional Epidermolysis Bullosa
Anemia, Bradycardia, Osteoporosis, Failure to thrive, Enamel hypoplasia, Abnormal blood ion conce... ORPHA:79404
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased mean platelet vol... OMIM:617718
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Overweight, Hypo... ORPHA:226307
Bohring-Opitz Syndrome
Severe failure to thrive, Fixed elbow flexion, Bradycardia, Limitation of joint mobility, Bilater... ORPHA:97297
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphocytosis, Cardiac arrest, Weight loss, Eosinophilia ORPHA:139402
Primary Ciliary Dyskinesia
Male infertility, Asplenia, Abnormal sperm motility, Female infertility, Polysplenia ORPHA:244
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Decreased body weight, Hyperammonemia,... ORPHA:1667
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Lymphocytosis, Myeloproliferative disorder, Hypotension, Abnormality... ORPHA:79456
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Panniculitis, Lymphocytosis, Neutro... ORPHA:3261
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Umbilical hernia, Bradycardia OMIM:218700
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Failure... ORPHA:911
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypokalemia, Hypocalcemia, Hypotension, Leukocytosis, Hypo... ORPHA:31824
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Pulmonary insufficiency, Scarring, Inguinal hernia, Bradycardia,... OMIM:614437
Rh Deficiency Syndrome
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... ORPHA:71275
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Elevated circulating C-reactive protein... OMIM:301074
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Premature ovarian insufficiency, Reduced bone mineral density, Prolonged QT interval,... ORPHA:99413
Turner Syndrome
Osteopenia, Premature ovarian insufficiency, Reduced bone mineral density, Prolonged QT interval,... ORPHA:881
Mosaic Monosomy X
Osteopenia, Premature ovarian insufficiency, Reduced bone mineral density, Prolonged QT interval,... ORPHA:99228
Monosomy X
Osteopenia, Premature ovarian insufficiency, Reduced bone mineral density, Prolonged QT interval,... ORPHA:99226
Hyperthyroidism, Nonautoimmune
Hyperactivity, Increased circulating thyroglobulin concentration, Small for gestational age, Tach... OMIM:609152
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Premature ovarian insufficiency, Female infertility, Irregular menstruation OMIM:110100
Kikuchi-Fujimoto Disease
Anorexia, Myocarditis, Anemia, Elevated circulating C-reactive protein concentration, Lymphocytos... ORPHA:50918
Liver Disease, Severe Congenital
Anemia, Inguinal hernia, Lymphocytosis, Hyperbilirubinemia, Hypocalcemia, Hypoproteinemia, Hypera... OMIM:619991
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Oligomenor... ORPHA:572333
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia, Dysphagia OMIM:619482
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Holt-Oram Syndrome
Limited elbow extension, Cervical C2/C3 vertebral fusion, Tricuspid regurgitation, Pulmonary arte... OMIM:142900

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.

Phenotype Allele Zygosity Sex Life Stage
Ovary - MPATH pathological process term developmental dysplasia Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult
Ovary - MPATH pathological process term hypoplasia Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult

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 Uhrf2.

No publications found that use IMPC mice or data for Uhrf2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Uhrf2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Uhrf2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Uhrf2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Uhrf2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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