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Gene: Hecw2 MGI:2685817

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Gene Summary

Name:
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
Synonyms:
Nedl2,  A730039N16Rik,  D030049F17Rik

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IMPC Data Collections

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
preweaning lethality, incomplete penetrance Hecw2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

3 Images

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Ear epidermis immunophenotyping

Images

3 Images

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Legacy Phenotype Associated Images
Hecw2tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Hecw2tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Hecw2tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Hecw2tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Hecw2tm1a(EUCOMM)Wtsi
WT, Male, WTSI

View all 103 images

Human diseases caused by Hecw2 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.

The table below shows human diseases associated to Hecw2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
High, narrow palate, Nasogastric tube feeding OMIM:617268

The table below shows human diseases predicted to be associated to Hecw2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Mungan Syndrome
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... OMIM:611376
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... OMIM:603041
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Gastroparesis, Facial palsy, Constipation, Gastroesophageal reflux, Failure to thrive OMIM:610131
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... OMIM:613217
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Abdominal ... ORPHA:85443
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Immunodeficiency 77
Gastroparesis OMIM:619223
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Young-Onset Parkinson Disease
Gastroparesis, Diarrhea, Constipation, Abnormal autonomic nervous system physiology, Nausea ORPHA:2828
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive OMIM:615863
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Intestinal pseudo-obstruction, Gastroparesis ORPHA:70595
Proximal Spinal Muscular Atrophy
Gastroparesis, Facial diplegia, Constipation, Gastroesophageal reflux, Dysphagia, Poor suck ORPHA:70
Chops Syndrome
Gastroparesis, High, narrow palate, Optic atrophy, Obesity, Constipation, Gastroesophageal reflux OMIM:616368
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Polymicrogyria, Gastroparesis, Bowel incontinence OMIM:618877
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Neonatal death, Failure to thrive, Small for gestational age, Gastroparesis OMIM:614052
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Prader-Willi Syndrome
Gastroparesis, Nasogastric tube feeding in infancy, Perisylvian polymicrogyria, Xerostomia, Abdom... ORPHA:739
Mgat2-Cdg
Gastroparesis, Feeding difficulties, Gastroesophageal reflux, Failure to thrive, Gastrostomy tube... ORPHA:79329
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small for gestational age, Gastroparesis, Feeding difficulties in infancy, Perisylvian polymicrog... ORPHA:98754
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Gastroparesis, Optic nerve hypop... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Gastroparesis, Optic nerve hypop... ORPHA:352665
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small for gestational age, Gastroparesis, Feeding difficulties in infancy, Perisylvian polymicrog... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small for gestational age, Gastroparesis, Feeding difficulties in infancy, Perisylvian polymicrog... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small for gestational age, Gastroparesis, Feeding difficulties in infancy, Perisylvian polymicrog... ORPHA:177901
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Weight loss, Intestinal pseudo-obstruction, Dysphagia OMIM:607459
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gastroparesis, Facial palsy, Dysphagia OMIM:157640
Autosomal Dominant Progressive External Ophthalmoplegia
Gastroparesis, Facial palsy, Facial diplegia, Constipation, Gastroesophageal reflux, Dysphagia, F... ORPHA:254892
Acute Transverse Myelitis
Orthostatic hypotension, Gastroparesis, Paralytic ileus, Constipation, Abnormal autonomic nervous... ORPHA:139417
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Occipital Horn Syndrome
Gastroparesis, Hiatus hernia, High, narrow palate, Gastroesophageal reflux, Esophagitis, Dysphagi... ORPHA:198
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Gastroparesis, Optic nerve hypoplasia, Feeding difficulties in infa... ORPHA:500150
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Steatorrhea, ... ORPHA:2070
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Abdominal pain, Malabsorption ORPHA:100025
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Cardiospondylocarpofacial Syndrome
Feeding difficulties, Failure to thrive, Gastroesophageal reflux, Gastroparesis OMIM:157800
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... OMIM:175500
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
High, narrow palate, Nasogastric tube feeding OMIM:617268

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 Hecw2

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 Hecw2.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Hecw2tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Hecw2tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Hecw2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Hecw2tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Hecw2tm1a(EUCOMM)Wtsi PMC5827107

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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
Hecw2tm47316(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hecw2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Hecw2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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