Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ubiquitin protein ligase E3 component n-recognin 3
Synonyms:
4833421P10Rik,  1110059H15Rik,  A130030D10Rik,  Zfp650

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ubr3 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 Ubr3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Body Mass Index Quantitative Trait Locus 19
Anosmia, Increased serum leptin, Obesity, Hyperinsulinemia, Polyphagia, Hyposmia OMIM:617885
Hypogonadotropic Hypogonadism 27 Without Anosmia
Anosmia, Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of... OMIM:619755
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Diabetes mellit... OMIM:610628
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia, Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteiniz... OMIM:614842
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia, Delayed puberty OMIM:274190
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased cir... OMIM:614839
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Anosmia, Delayed puberty OMIM:615270
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia, Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing horm... OMIM:616030
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia, Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gona... OMIM:618841
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Dec... OMIM:614897
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Anosmia, Absence of pubertal development OMIM:615267
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism OMIM:614858
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotro... OMIM:308750
Musk, Inability To Smell
Anosmia OMIM:254150
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Anosmia, Hypogonadotropic hypogonadism, Delayed puberty, Hyposmia OMIM:612702
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia, Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased s... OMIM:614841
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Decreased serum testosterone concentration, Hypothalamic gonadotropin-releasing hormone ... OMIM:308700
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Bifid nose, Anosmia, Hypogonadotropic hypogonadism, Hyposmia OMIM:614838
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hyposmia OMIM:615266
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism OMIM:612370
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Hypogonadism, Short nasal septum, Short nose OMIM:302950
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Delayed puberty, Hyposmia OMIM:615271
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia, Absence of pubertal development, Hypogonadotropic hypogonadism, Decreased circulating lu... OMIM:614837
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Abnormality of the sense of smell, Disinhib... ORPHA:399
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism, Hyposmia OMIM:244200
Bardet-Biedl Syndrome 17
Anosmia, Polydipsia, Hypogonadism, Obesity, Hyposmia OMIM:615994
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Hypogonadotropic hypogonadism, Delayed puberty, Hyposmia OMIM:147950
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Anosmia OMIM:614880
Peroxisome Biogenesis Disorder 9B
Anosmia, Total anosmia OMIM:614879
Kleine-Levin Syndrome
Polydipsia, Parosmia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive ... ORPHA:33543
Septo-Optic Dysplasia Spectrum
Anosmia, Polydipsia, Obesity, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidu... ORPHA:3157
Johnson Neuroectodermal Syndrome
Choanal atresia, Anosmia, Failure to thrive, Hypogonadism, Bulbous nose ORPHA:2316
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Abnormality of the sense of smell OMIM:146110
Hyperostosis Cranialis Interna
Anosmia, Hyposmia OMIM:144755
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia involving the nose, Abnormalit... ORPHA:1135
Kufor-Rakeb Syndrome
Anosmia, Dysphagia, Aggressive behavior, Hyposmia OMIM:606693
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Elevated circulating luteinizing hormone level, Decreased circulating follicle stim... OMIM:229070
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Hypogonadotropic hypogonadism, Abnormal nostril morphology, Short nose ORPHA:1295
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Decreased response to growth hormone stimulation test, Midnasal stenosi... OMIM:147250
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Wide nasal bridge, Anosmia OMIM:210745
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Indifference To Pain, Congenital, Autosomal Recessive
Anosmia, Hyposmia OMIM:243000
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Androgen insufficienc... OMIM:228300
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Hyposmia OMIM:613724
Aural Atresia, Congenital
Hyposmia OMIM:607842
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, Hyposmia OMIM:615996
Kallmann Syndrome
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Obesity, Hypogonadotropic hypogo... ORPHA:478
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Abnormality of the sense of smell, Hypogonadotr... OMIM:616113
Refsum Disease, Classic
Anosmia OMIM:266500
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia OMIM:601152
Refsum Disease
Anosmia ORPHA:773
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Chronic rhinitis OMIM:244400
Holoprosencephaly
Choanal atresia, Depressed nasal ridge, Anosmia, Aplasia/Hypoplasia involving the nose, Failure t... ORPHA:2162
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Hypogonadotropic hypogonadism, Delayed puberty, Total anosmia ORPHA:2326
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Hyposmia, Hypogonadism, Absent nares, Single naris ORPHA:2250
8P11.2 Deletion Syndrome
Depressed nasal bridge, Anosmia, Hypogonadism, Hypogonadotropic hypogonadism, Abnormality of the ... ORPHA:251066
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism, Delayed puberty OMIM:619718
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... OMIM:168000
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... OMIM:605373
Waardenburg Syndrome, Type 4C
Hypogonadism, Anosmia OMIM:613266
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Hereditary Late-Onset Parkinson Disease
Hyposmia, Agitation, Weight loss, Dysphagia, Impulsivity ORPHA:411602
Superficial Siderosis
Anosmia, Partial anosmia ORPHA:247245
Marcus-Gunn Syndrome
Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Young-Onset Parkinson Disease
Impulsivity, Restless legs, Agitation, Hyposmia ORPHA:2828
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Hypogonadotropic hypogonadism, Aplasia of the nose, Anosmia OMIM:603457
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia OMIM:609136
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
Charge Syndrome
Depressed nasal bridge, Choanal atresia, Anosmia, Hypogonadotropic hypogonadism, Attention defici... ORPHA:138
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Abnormality of the sense of smell, Wide nose ORPHA:284160
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Moebius Syndrome
Hypogonadotropic hypogonadism, Dysphagia, Abnormality of the sense of smell ORPHA:570
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Charge Syndrome
Choanal atresia, Anosmia, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased res... OMIM:214800
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Anosmia, Dysphagia ORPHA:2363
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Gorlin Syndrome
Wide nasal bridge, Hypogonadotropic hypogonadism, Abnormality of the sense of smell ORPHA:377
Neuroblastoma
Elevated circulating catecholamine level, Weight loss ORPHA:635
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Motor stereotypy, Hyposmia OMIM:618653
Bardet-Biedl Syndrome
Depressed nasal bridge, Hypogonadism, Obesity, Prominent nasal bridge, Type II diabetes mellitus,... ORPHA:110
Amoebiasis Due To Free-Living Amoebae
Abnormality of the adrenal glands, Restlessness, Hyposmia ORPHA:68
Leopard Syndrome 1
Depressed nasal ridge, Delayed menarche, Hypoplasia of the ovary, Delayed puberty, Hyposmia OMIM:151100
Occipital Horn Syndrome
Dysphagia, Abnormality of the sense of smell ORPHA:198
Wilson Disease
Hypoparathyroidism, Dysphagia, Hyposmia OMIM:277900
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic islet cell adenoma... ORPHA:892

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 Ubr3

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 Ubr3.

No publications found that use IMPC mice or data for Ubr3.

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
Ubr3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ubr3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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