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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
female infertility Uhrf2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
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
increased circulating alkaline phosphatase level Uhrf2tm1b(EUCOMM)Wtsi HOM   Early adult 4.75×10-06
abnormal bone structure Uhrf2tm1b(EUCOMM)Wtsi HOM   Early adult 2.07×10-08
decreased heart rate Uhrf2tm1b(EUCOMM)Wtsi HOM   Early adult 6.84×10-06
decreased bone mineral content Uhrf2tm1b(EUCOMM)Wtsi HOM   Early adult 3.48×10-09
increased total body fat amount Uhrf2tm1b(EUCOMM)Wtsi HOM   Early adult 3.85×10-09
decreased bone mineral density Uhrf2tm1b(EUCOMM)Wtsi HOM   Early adult 1.82×10-06
decreased body length Uhrf2tm1b(EUCOMM)Wtsi HOM   Early adult 3.32×10-11
increased lymphocyte cell number Uhrf2tm1b(EUCOMM)Wtsi HOM   Early adult 5.85×10-05
prolonged RR interval Uhrf2tm1b(EUCOMM)Wtsi HOM   Early adult 4.13×10-07
preweaning lethality, incomplete penetrance Uhrf2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

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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Embryo LacZ

LacZ images wholemount

24 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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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Download thumbnail Download
Immunophenotyping

Panel A FCS file(s)

6 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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Download thumbnail Download
Immunophenotyping

Panel B FCS file(s)

6 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Histopathology

Images

2 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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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
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea OMIM:300604
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Atrial Standstill
Flexion contracture, Right bundle branch block, Ischemic stroke, Mobitz I atrioventricular block,... ORPHA:1344
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Pulmonic stenosis, Ventricular escape rhythm, Failure to thrive, Mitral re... OMIM:616201
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Decreased plasma free carnitine, Congestive heart failure, Failure to thrive, Br... OMIM:619048
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Tako-Tsubo Cardiomyopathy
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... ORPHA:66529
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy OMIM:618815
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Bradycardia, Umbil... ORPHA:95717
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Flexion contracture, Elevated circulating creatine kinase concentration, Lipodystro... OMIM:613327
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Atrial Standstill 2
Hyperpepsinogenemia I, Scarring, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial a... OMIM:615745
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Increased total bilirubin, Hyperprolinemia, Bradycardia, Hypergl... OMIM:616299
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome OMIM:617182
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Absent ossification of capital femoral epiphysis, Bradycardia, Umbilic... ORPHA:226313
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
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 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
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Progesterone Resistance
Female infertility OMIM:264080
Glutamine Deficiency, Congenital
Flexion contracture, Hypoglutaminemia, Camptodactyly, Hyperammonemia, Neonatal death, Bradycardia OMIM:610015
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... OMIM:614022
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Elevated circulating creatine kinase concentration, Premature ventri... OMIM:212138
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis ORPHA:488191
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona... ORPHA:95716
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Small for gestational age, Hypertrophic cardiomyopathy, Failure to thrive, Hyper... OMIM:614702
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, S... ORPHA:101016
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Cln3 Disease
T-wave inversion, Bradycardia, Vacuolated lymphocytes ORPHA:228346
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Bradycardia, Atrioventricular block, Joint contracture of the 5th finger OMIM:614407
Necrotizing Enterocolitis
Hypotension, Small for gestational age, Shock, Leukocytosis, Hyponatremia, Thrombocytopenia, Neut... ORPHA:391673
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia OMIM:614654
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Developmental And Epileptic Encephalopathy 101
Bradycardia, Third degree atrioventricular block, Limb joint contracture OMIM:619814
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Hypogonadism, Premature ovarian insufficiency, Arrhythmia, Bradycardia, Cardiomyopathy OMIM:609286
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Abnormal EKG, Congestive heart... ORPHA:330001
Tetanus
Stiff neck, Hypertension, Elevated circulating creatine kinase concentration, Bradycardia, Tachyc... ORPHA:3299
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Trimethylaminuria
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly OMIM:602079
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con... OMIM:618775
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypocalcemia OMIM:601005
Illum Syndrome
Bradycardia, Arthrogryposis multiplex congenita, Calcinosis OMIM:208155
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Bradycardia, Joint contracture OMIM:614498
Sepsis In Premature Infants
Hypotension, Splenomegaly, Anemia, Decreased body weight, Small for gestational age, Elevated cir... ORPHA:90051
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Hypertension, El... ORPHA:94093
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome ORPHA:542306
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Lujo Hemorrhagic Fever
Hypotension, Leukopenia, Stiff neck, Subconjunctival hemorrhage, Lymphopenia, Shock, Elevated cir... ORPHA:319213
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Increased circulating ferritin conce... OMIM:618963
Acquired Partial Lipodystrophy
Lipoatrophy, Lymphocytosis ORPHA:79087
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Vasculitis, Pancytopenia, Hemophagocytosis, Elevated circulating C-re... OMIM:308240
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Inguinal hernia, Bradycardia, Failure to thrive OMIM:619272
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Sheehan Syndrome
Impotence, Decreased female libido, Oligomenorrhea, Normochromic anemia, Dyspareunia, Palpitation... ORPHA:91355
Marburg Hemorrhagic Fever
Hypotension, Reticulocytosis, Elevated circulating creatine kinase concentration, Shock, Pericard... ORPHA:99826
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Hypothyroidism Due To Tsh Receptor Mutations
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Increased circulat... ORPHA:90673
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... OMIM:261740
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Elevated circulating creatine kinase concentration, Palpitations, Second degree atrioven... OMIM:616812
Sickle Cell Anemia
Osteomyelitis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volu... ORPHA:232
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Elevated circulating creatine kinase concentration, Abnormal left ve... ORPHA:99827
Aggressive Systemic Mastocytosis
Hypotension, Anemia, Neutropenia, Weight loss, Leukemia, Hypersplenism, Pancytopenia, Hepatosplen... ORPHA:98850
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Failu... ORPHA:90674
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia ORPHA:40366
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Failure to thrive, Bradycardia OMIM:220120
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Failure to thrive, Female infertility, Elevated circulating crea... OMIM:619518
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Cong... ORPHA:75564
Pseudo-Torch Syndrome 2
Thrombocytopenia, Bradycardia, Cerebral hemorrhage OMIM:617397
Aromatase Deficiency
Eunuchoid habitus, Female infertility, Male infertility, Osteopenia, Hyperlipidemia, Primary amen... ORPHA:91
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... ORPHA:216694
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St... OMIM:612310
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Increased susceptibility to fractures, Splenomegaly, Abnormality... ORPHA:231222
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Oligomenorrhea OMIM:617442
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Increased susceptibility to fractures, Acute myeloid leukemia, Splenomegaly, Increas... ORPHA:98849
Polycythemia Vera
Increased red blood cell mass, Cerebral ischemia, Cerebral hemorrhage, Increased hematocrit, Thro... OMIM:263300
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Increased circulating free fatty acid level, Bradycardia, Dilated cardiomyopathy OMIM:610768
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia, Congenital foot contractures ORPHA:565624
Relapsing Fever
Hypotension, Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Epistaxis, Elevated cir... ORPHA:91547
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Hepatosplenomegaly, Epistaxis, Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis,... OMIM:612840
Ring Chromosome Y Syndrome
Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infertility, Male infertility, S... ORPHA:261529
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Flexion contracture, Limited hip extension, Corneal scarring, Hypertension, B... OMIM:614653
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Glossopharyngeal Neuralgia
Jaw claudication, Syncope, Bradycardia, Weight loss ORPHA:221098
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Myelofibrosis... ORPHA:86843
Yellow Fever
Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Hyperbilirubinemia, Neut... ORPHA:99829
Proximal Spinal Muscular Atrophy
Knee flexion contracture, Flexion contracture, Multiple joint contractures, Elbow flexion contrac... ORPHA:70
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Anemia, Reduced left ventricular ejection fract... ORPHA:563
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Retinal hemorrhage, Acute myeloid leukemia, Abnormal ... ORPHA:86839
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Elevated circulating C-reactive protein concentration, Panniculitis,... OMIM:617099
Encephalitis Lethargica
Stiff neck, Bradycardia ORPHA:83600
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Acute Monoblastic/Monocytic Leukemia
Anemia, Weight loss, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia ORPHA:514
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Overw... ORPHA:226307
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Joint contracture, Arthrogryposis multiplex congenita, Sinus bradycardia, Co... OMIM:618397
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Small for gestational age, Dilated cardiomyopathy, E... ORPHA:26793
Immunodeficiency 92
Osteomyelitis, B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B ... OMIM:619652
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Anemia, Dilated cardiomyopathy, Abnormal blood ion concentration, Failure to t... ORPHA:79404
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cellulitis, Lymphocytosis, Vasculitis in the skin, Failure to thrive, Elevated circulating C-reac... OMIM:617718
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly, Congestive heart failure, Autoimmune hemolytic anemia, T... ORPHA:90037
Bohring-Opitz Syndrome
Fixed elbow flexion, Limitation of joint mobility, Bilateral wrist flexion contracture, Severe fa... ORPHA:97297
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Neonatal death, Bradycardia, Neutropenia OMIM:617248
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Decreased proportion of CD4-positive helper T cells, Premature ovarian in... ORPHA:3261
Wolcott-Rallison Syndrome
Decreased body weight, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron defi... ORPHA:1667
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticu... ORPHA:35858
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... ORPHA:2041
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Polysplenia, Female infertility, Male infertility ORPHA:244
Diffuse Cutaneous Mastocytosis
Hypotension, Lymphocytosis, Gastrointestinal hemorrhage, Myeloproliferative disorder, Abnormality... ORPHA:79456
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Joint hypermobility, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss, Cardiac arrest, Lymphocytosis, Eosinophilia, Myocarditis ORPHA:139402
X-Linked Lymphoproliferative Disease
Increased B cell count, Myocarditis, Reduced natural killer cell count, T lymphocytopenia, B lymp... ORPHA:2442
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia, Bradycardia, Umbilical hernia OMIM:218700
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune throm... ORPHA:911
Colchicine Poisoning
Hypotension, Hypovolemia, Cardiogenic shock, Hypophosphatemia, Hypokalemia, Congestive heart fail... ORPHA:31824
Rh Deficiency Syndrome
Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... ORPHA:71275
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Perianal abscess, Weight loss, Arthritis, Lymphocytosis, Eleva... OMIM:301074
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Joint hypermobility, Inguinal hernia, Congenital diaphragmatic hernia, B... OMIM:614437
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Irregular menstruation OMIM:110100
Renal Nutcracker Syndrome
Anemia, Weight loss, Infertility, Syncope, Dyspareunia, Orthostatic hypotension, Dysmenorrhea, Ta... ORPHA:71273
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Hypertension, Myocardial infarction, Prolo... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Premature ovarian insufficiency, Hypertension, Myocardial infarction, Prolo... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Hypertension, Myocardial infarction, Prolo... ORPHA:99228
Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Hypertension, Myocardial infarction, Prolo... ORPHA:99226
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Kikuchi-Fujimoto Disease
Leukopenia, Anemia, Neutropenia, Weight loss, Lymphocytosis, Vasculitis in the skin, Elevated cir... ORPHA:50918
Liver Disease, Severe Congenital
Leukopenia, Systolic heart murmur, Hyperalaninemia, Anemia, Elevated hepatic iron concentration, ... OMIM:619991
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, H... ORPHA:572333
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482

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.

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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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