Gene Summary

Name:
ubiquitin-conjugating enzyme E2M
Synonyms:
2510040H03Rik,  Ubc-rs2,  UBC12

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 Ube2mtm1.1(KOMP)Wtsi HOM   Early adult 0.00
increased startle reflex Ube2mtm1.1(KOMP)Wtsi HET   Early adult 8.23×10-05
embryonic lethality prior to organogenesis Ube2mtm1.1(KOMP)Wtsi HOM   E9.5 0.00
increased circulating sodium level Ube2mtm1.1(KOMP)Wtsi HET Early adult 7.30×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Thyroid gland 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)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (1 of 1)
Brain N/A heterozygote 100% (1 of 1)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 100% (1 of 1)
Eye N/A heterozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Heart N/A heterozygote 100% (1 of 1)
Hindbrain N/A heterozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Maxillary process N/A heterozygote 100% (1 of 1)
Midbrain N/A heterozygote 100% (1 of 1)
Nose N/A heterozygote 100% (1 of 1)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote 100% (1 of 1)
Spinal cord N/A heterozygote 100% (1 of 1)
Tail somite N/A heterozygote 100% (1 of 1)
Tail N/A heterozygote 100% (1 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 575)
aorta 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
epididymis 13.79% (20 of 145)
esophagus 1.73% (7 of 404)
eye 0.0%
heart 0.35% (2 of 571)
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.17% (1 of 579)
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
striatum 0.52% (3 of 582)
submandibular gland 1.43% (2 of 140)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
trachea 0.34% (2 of 589)
urinary bladder 0.0%
uterus 0.35% (2 of 579)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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)
brain 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
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)
fronto-nasal process 1.64% (1 of 61)
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)
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)

Associated Images

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

Adult LacZ

LacZ Images Section

44 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Sleep Wake

Wake state (bmp file)

5 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Ube2m 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 Ube2m by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:620125
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoargininemia, Hyperammonemia, Hyperglutaminemia, Hyperalaninemia, Low plasma citrulline, Hyper... OMIM:615751
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Neuroleptic Malignant Syndrome
Hyperuricemia, Oculogyric crisis, Hyperphosphatemia, Elevated circulating creatine kinase concent... ORPHA:94093
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529799
Pyruvate Carboxylase Deficiency
Hyperglutamatemia, Hyperammonemia, Hyperalaninemia, Elevated plasma citrulline, Increased serum p... ORPHA:3008
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Hyperkalemia OMIM:609153
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:610600
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:203400
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypochloremia, Increased circulating renin level, Hypokalemia OMIM:300971
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Dystonia ORPHA:163921
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556037
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556030
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:682
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Increased total bilirubin, Hypertriglyc... OMIM:267700
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Increased blood urea nitrogen, Hypomagnesemia OMIM:613845
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:171876
Colchicine Poisoning
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hyponatremia, Hypo... ORPHA:31824
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Abnormal circulating porphyrin ... ORPHA:100924
Snakebite Envenomation
Hyponatremia ORPHA:449285
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia OMIM:608688
Hartsfield Syndrome
Hypernatremia OMIM:615465
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:427
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia OMIM:613090
Alg8-Cdg
Hyponatremia ORPHA:79325
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:619381
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating ferritin ... OMIM:603553
Cholera
Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypokalemia ORPHA:173
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia ORPHA:97362
Japanese Encephalitis
Choreoathetosis, Tremor, Pill-rolling tremor, Opisthotonus, Hyponatremia, Dystonia ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 3
Hyperammonemia, Elevated circulating creatine kinase concentration, Tremor, Hyponatremia, Dystonia OMIM:610505
Infant Botulism
Hyponatremia ORPHA:178478
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic tetany, Ele... ORPHA:411634
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia ORPHA:199299
Mirage Syndrome
Hyponatremia, Hyperkalemia OMIM:617053
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Legionnaires Disease
Hyponatremia ORPHA:549
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:90791
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia ORPHA:361
Whipple Disease
Hyponatremia ORPHA:3452
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Hypocalcemia, Hypokalemia, Calcinosis OMIM:617913
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Acute Adrenal Insufficiency
Hyperuricemia, Increased circulating renin level, Hyperkalemia, Hyponatremia, Hypercalcemia ORPHA:95409
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Acute Intermittent Porphyria
Tremor, Hyponatremia ORPHA:79276
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb dystonia, Torticollis, Blepharospasm, Limb tremor, Oculogyric crisis, Athetosis, Exaggerated... OMIM:608643
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Adenohypophysitis
Hyponatremia ORPHA:95512
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Ch├ędiak-Higashi Syndrome
Hypoproteinemia, Hypertriglyceridemia, Tremor, Increased circulating ferritin concentration, Hypo... ORPHA:167
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Hyponatremia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia OMIM:602522
Panhypophysitis
Hyponatremia ORPHA:95513
Pituitary Apoplexy
Hyponatremia ORPHA:95613
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hyponatremia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Shigellosis
Abnormal blood ion concentration, Hyponatremia ORPHA:810
Bartter Syndrome Type 4
Hypochloremia, Increased circulating renin level, Hypokalemia, Hyponatremia, Hypomagnesemia ORPHA:89938
Familial Dysautonomia
Hyponatremia ORPHA:1764
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia ORPHA:293978
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Increased circulating renin level, ... ORPHA:168558
Addison Disease
Hyperuricemia, Increased circulating renin level, Hyperkalemia, Hyponatremia, Hypercalcemia ORPHA:85138
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Increased circulating renin level, ... ORPHA:289548
Holoprosencephaly
Hyponatremia, Dystonia ORPHA:2162
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyponatremia, Hypercholesterolemia, Hyperkalemia ORPHA:275761
Cystinosis, Nephropathic
Hypophosphatemia, Hypokalemia, Hypophosphatemic rickets, Reduced blood urea nitrogen, Decreased p... OMIM:219800
Sheehan Syndrome
Hyponatremia ORPHA:91355
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypercholesterolemia, Hypokalemia, Hypoammonemia, Hyponatremia ORPHA:534
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hypocalcemia, Hyperkalemia ORPHA:544482
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Hyperalani... OMIM:619991
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Hyponatremia, Hyperkalemia ORPHA:293987
Tay-Sachs Disease
Tremor, Exaggerated startle response, Laryngeal dystonia, Increased serum beta-hexosaminidase, Dy... ORPHA:845
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypochloremia, Hyponatremia, Hyperkalemia ORPHA:90794
Autosomal Recessive Polycystic Kidney Disease
Increased serum bile acid concentration, Hyponatremia ORPHA:731
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Sandhoff Disease
Exaggerated startle response OMIM:268800
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating renin level, Hyperkalemia OMIM:201750
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Decreased serum iron, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Ube2m

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 Ube2m.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Ube2mtm1.1(KOMP)Wtsi PMC5503261

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ube2mtm1.1(KOMP)Wtsi Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Ube2mtm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Ube2mtm464743(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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