Gene Summary

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

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

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

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 Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Forepaw

14 Images

Anti-nuclear antibody assay

Images

3 Images

Ear epidermis immunophenotyping

Images

3 Images

Legacy Phenotype Associated Images

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
Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Intestinal m... OMIM:619350
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Abnormality of the... OMIM:611376
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora... OMIM:277320
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutriti... OMIM:603041
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Gastroesophageal reflux, Failure to thrive, Gastroparesis, Constipation, Facial palsy OMIM:610131
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Villous atrophy, Crypt hyperplasia, Small for gestationa... OMIM:613217
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Postural hypotension with compensatory tachycardia, Gast... ORPHA:85443
Immunodeficiency 77
Gastroparesis OMIM:619223
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Diarrhea 9
Villous atrophy, Diarrhea, Failure to thrive OMIM:618168
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte... OMIM:619079
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption OMIM:613291
Young-Onset Parkinson Disease
Diarrhea, Gastroparesis, Constipation, Abnormal autonomic nervous system physiology, Nausea ORPHA:2828
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Vomiting, Diarrhea, Abdominal colic, Failure to thrive, Villous atrophy OMIM:615863
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... OMIM:615237
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Malabsorption, Abnormal small intestinal mucosa morphology, Nausea, Abdominal distentio... ORPHA:103907
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Gastroesophageal reflux, Abnormal large intestine morphol... ORPHA:90291
Small Bowel Atresia
Vomiting, Failure to thrive, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdo... ORPHA:1201
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gastroparesis, Intestinal pseudo-obstruction ORPHA:70595
Chops Syndrome
High, narrow palate, Optic atrophy, Gastroesophageal reflux, Gastroparesis, Obesity, Constipation OMIM:616368
Proximal Spinal Muscular Atrophy
Gastroesophageal reflux, Gastroparesis, Facial diplegia, Constipation, Dysphagia, Poor suck ORPHA:70
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Vomiting, Failure to thrive, Abnormal intestine morphology, Feeding difficulties in inf... OMIM:606528
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gastroparesis, Bowel incontinence, Polymicrogyria OMIM:618877
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea OMIM:251850
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Gastroparesis, Small for gestational age, Failure to thrive, Neonatal death OMIM:614052
Prader-Willi Syndrome
Vomiting, Xerostomia, Failure to thrive, Poor suck, Gastroparesis, Abdominal obesity, Nasogastric... ORPHA:739
Mgat2-Cdg
Gastroesophageal reflux, Failure to thrive, Gastroparesis, Gastrostomy tube feeding in infancy, F... ORPHA:79329
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Failure to thrive, Volvulus, Malnutrition, Malabsorption, Villous atrophy, Ab... ORPHA:95427
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Gastroparesis, Obesity, Feeding difficulties in infancy, Small for gestational... ORPHA:98754
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Macroglossia, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Macroglossia, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseu... ORPHA:352665
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Gastroparesis, Obesity, Feeding difficulties in infancy, Small for gestational... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Gastroparesis, Obesity, Feeding difficulties in infancy, Small for gestational... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Gastroparesis, Obesity, Feeding difficulties in infancy, Small for gestational... ORPHA:177901
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Weight loss, Dysphagia, Intestinal pseudo-obstruction OMIM:607459
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gastroparesis, Facial palsy, Dysphagia OMIM:157640
Autosomal Dominant Progressive External Ophthalmoplegia
Gastroesophageal reflux, Failure to thrive, Gastroparesis, Facial diplegia, Constipation, Facial ... ORPHA:254892
Acute Transverse Myelitis
Autonomic bladder dysfunction, Gastroparesis, Paralytic ileus, Constipation, Orthostatic hypotens... ORPHA:139417
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Failure to thrive, Optic disc coloboma, Abnormal large intestinal m... ORPHA:92050
Occipital Horn Syndrome
High, narrow palate, Gastroesophageal reflux, Gastroparesis, Abnormal esophagus physiology, Esoph... ORPHA:198
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Optic atrophy, Gastroesophageal reflux, Optic nerve hypoplasia, Polymicrogyria, Fail... ORPHA:500150
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Diarrhea, Weight loss, Abdominal distention ORPHA:103910
Eosinophilic Gastroenteritis
Hematochezia, Protein-losing enteropathy, Diarrhea, Vomiting, Malabsorption, Weight loss, Abnorma... ORPHA:2070
Cardiospondylocarpofacial Syndrome
Gastroparesis, Gastroesophageal reflux, Failure to thrive, Feeding difficulties OMIM:157800
Alpha-Heavy Chain Disease
Abdominal pain, Malabsorption, Abnormal small intestine morphology ORPHA:100025
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

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
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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