Gene: Ubr3 MGI:1861100

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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,  A130030D10Rik,  1110059H15Rik,  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
Hyposmia, Anosmia, Obesity OMIM:617885
Dermoid Cysts, Familial Frontonasal
Deviated nasal septum, Nasal congestion, Dysphagia, Anosmia, Wide nasal bridge OMIM:600679
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Hyposmia, Anosmia OMIM:615267
Thumb Agenesis, Short Stature, And Immunodeficiency
Delayed puberty, Anosmia OMIM:274190
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia OMIM:614839
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia OMIM:614842
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia, Isolated Congenital
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Obesity, Anosmia, Diabetes mellitus OMIM:610628
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Hypogonadotropic hypogonadism, Anosmia, Depressed nasal bridge OMIM:113480
Bardet-Biedl Syndrome 19
Hypogonadism, Hyposmia, Obesity OMIM:615996
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone con... OMIM:618841
Musk, Inability To Smell
Anosmia OMIM:254150
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Small pituitary gland, Hyposmia, Anosmia OMIM:612702
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hyposmia, Anosmia OMIM:614838
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Anosmia, Hypogonadism, Short nasal septum, Depressed nasal bridge OMIM:302950
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia OMIM:612370
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614897
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Anosmia OMIM:616030
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia, Decreased circulating gonadotropin concentration, Delayed puberty, Decreased serum testo... OMIM:614841
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Eunuchoid habitus, Anosmia, Dec... OMIM:308700
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Eunuchoid habitus, Decreased ci... OMIM:308750
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia OMIM:243000
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Hyposmia, Anosmia OMIM:608720
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Gonadotropin deficiency OMIM:614837
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anosmia, Pyriform aperture stenosis, Choanal atresia, Midnasal s... OMIM:147250
Johnson Neuroectodermal Syndrome
Bulbous nose, Anosmia, Choanal atresia, Failure to thrive, Hypogonadism ORPHA:2316
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia OMIM:244200
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Choanal atresia OMIM:147950
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of... ORPHA:1135
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Anosmia, Anterior pituitary hypoplasia, Diabetes insipidus, Polydipsia, Abnorm... ORPHA:3157
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypogonadotropic hypogonadism, Anosmia, Short nose, Abnormality of the nares ORPHA:1295
Huntington Disease
Choking episodes, Decreased body mass index, Polyphagia, Weight loss, Oral-pharyngeal dysphagia, ... ORPHA:399
Kufor-Rakeb Syndrome
Anosmia, Dysphagia, Hyposmia OMIM:606693
Aural Atresia, Congenital
Hyposmia OMIM:607842
Johnson Neuroectodermal Syndrome
Hypogonadotropic hypogonadism, Anosmia, Choanal stenosis OMIM:147770
Kallmann Syndrome
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Delayed puberty, Hyposmia, Hypog... ORPHA:478
Congenital Hypothyroidism
Goiter, Hypothyroidism, Anosmia, Abnormality of the thyroid gland, Depressed nasal ridge, Hypogon... ORPHA:442
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Hyposmia OMIM:613724
Refsum Disease, Classic
Anosmia OMIM:266500
Leptin Receptor Deficiency
Polyphagia, Recurrent upper respiratory tract infections, Hypergonadotropic hypogonadism, Pituita... OMIM:614963
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia OMIM:601152
Ichthyosis And Male Hypogonadism
Male hypogonadism, Gonadotropin deficiency, Anosmia, Hypogonadotropic hypogonadism OMIM:308200
Refsum Disease
Anosmia ORPHA:773
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
Holoprosencephaly
Panhypopituitarism, Depressed nasal tip, Anosmia, Choanal atresia, Failure to thrive in infancy, ... ORPHA:2162
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Total anosmia, Delayed puberty, Partial anosmia ORPHA:2326
Gorlin Syndrome
Hypogonadotropic hypogonadism, Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Hyposmia, Single naris, Hypogonadism, Absent nares ORPHA:2250
8P11.2 Deletion Syndrome
Anosmia, Hypogonadotropic hypogonadism, Hypogonadism, Abnormality of the hypothalamus-pituitary a... ORPHA:251066
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
Hyperostosis Cranialis Interna
Hyposmia OMIM:144755
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia OMIM:609136
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
Bosma Arhinia Microphthalmia Syndrome
Aplasia of the nose, Anosmia, Choanal atresia, Hypogonadotropic hypogonadism OMIM:603457
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Superficial Siderosis
Anosmia, Partial anosmia ORPHA:247245
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Hereditary Late-Onset Parkinson Disease
Dysphagia, Hyposmia, Weight loss ORPHA:411602
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Charge Syndrome
Anosmia, Choanal atresia, Delayed puberty, Depressed nasal bridge, Hypogonadotropic hypogonadism,... ORPHA:138
Charge Syndrome
Hypothyroidism, Dysphagia, Anosmia, Choanal atresia, Aplasia/Hypoplasia of the thymus, Decreased ... OMIM:214800
8Q21.11 Microdeletion Syndrome
Abnormality of the sense of smell, Underdeveloped nasal alae, Wide nose ORPHA:284160
Moebius Syndrome
Hypogonadotropic hypogonadism, Dysphagia, Abnormality of the sense of smell ORPHA:570
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge ORPHA:140
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Lacrimoauriculodentodigital Syndrome
Dysphagia, Anosmia, Choanal atresia ORPHA:2363
Young-Onset Parkinson Disease
Hyposmia ORPHA:2828
Paragangliomas 1
Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochromocytoma, Elevated circulatin... OMIM:168000
Paragangliomas 3
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Elevated circulating catecholamine level... OMIM:605373
Leopard Syndrome 1
Delayed puberty, Hyposmia, Depressed nasal ridge, Hypoplasia of the ovary, Delayed menarche OMIM:151100
Occipital Horn Syndrome
Dysphagia, Abnormality of the sense of smell ORPHA:198
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia, Obesity OMIM:618653
Amoebiasis Due To Free-Living Amoebae
Hyposmia, Abnormality of the adrenal glands ORPHA:68
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441

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.

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MGI Allele Allele Type Produced
Ubr3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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