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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

Download data as:  TSV  XLS

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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 Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 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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Anti-nuclear antibody assay

Images

3 Images

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FCS thumbnail FCS
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
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Cac... ORPHA:1876
Mungan Syndrome
Barrett esophagus, Hypoperistalsis, Megaduodenum, Abdominal pain, Abnormality of the autonomic ne... OMIM:611376
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal pain, Abdominal distention, Malnutrition, Spontaneous esophageal perforation, Gastropar... OMIM:277320
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal perforation, Intermittent diarrhea, Colonic diverticula, Diarrhea, Weight loss, Vomiti... OMIM:603041
Visceral Myopathy 1
Vomiting, Diarrhea, Megaduodenum, Aganglionic megacolon, Microcolon, Abdominal pain, Abdominal di... OMIM:155310
Carcinoma Of Esophagus
Gastroesophageal reflux, Weight loss, Esophageal neoplasm, Abnormal intestine morphology, Dysphag... ORPHA:70482
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Gastroesophageal reflux, Gastroparesis, Failure to thrive, Constipation, Facial palsy OMIM:610131
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Intractable diarrhea, Failure to thrive, Crypt hyperp... OMIM:613217
Al Amyloidosis
Weight loss, Abnormality of the gastrointestinal tract, Abnormal autonomic nervous system physiol... ORPHA:85443
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea, Failure to thrive, Chronic diarrhea OMIM:613291
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Immunodeficiency 77
Gastroparesis OMIM:619223
Diarrhea 9
Failure to thrive, Diarrhea, Villous atrophy OMIM:618168
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Chronic diarrhea, Malabsorption, Abdominal pain, Abdominal distention, Dyspepsia, Nause... ORPHA:103907
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... OMIM:619079
Diarrhea 7, Protein-Losing Enteropathy Type
Vomiting, Diarrhea, Villous atrophy, Abdominal colic, Failure to thrive, Protein-losing enteropathy OMIM:615863
Young-Onset Parkinson Disease
Diarrhea, Abnormal autonomic nervous system physiology, Constipation, Nausea, Gastroparesis ORPHA:2828
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom... OMIM:615237
Systemic Sclerosis
Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... ORPHA:90291
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Intestinal pseudo-obstruction, Gastroparesis ORPHA:70595
Proximal Spinal Muscular Atrophy
Gastroesophageal reflux, Poor suck, Facial diplegia, Constipation, Dysphagia, Gastroparesis ORPHA:70
Chops Syndrome
Gastroesophageal reflux, Optic atrophy, Constipation, Obesity, High, narrow palate, Gastroparesis OMIM:616368
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bowel incontinence, Polymicrogyria, Gastroparesis OMIM:618877
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Small for gestational age, Failure to thrive, Neonatal death, Gastroparesis OMIM:614052
Secondary Short Bowel Syndrome
Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Small intestinal dysmotility, Malabsorption, ... ORPHA:95427
Prader-Willi Syndrome
Nasogastric tube feeding in infancy, Vomiting, Perisylvian polymicrogyria, Poor suck, Failure to ... ORPHA:739
Mgat2-Cdg
Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Failure to thrive, Feeding difficul... ORPHA:79329
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Perisylvian polymicrogyria, Small for gestational age, Feeding difficulties in infancy, Failure t... ORPHA:98754
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... OMIM:142623
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Nasogastric tube feeding in infancy, Gray matter heterotopia, Bifid tongue, Exaggerated median to... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Nasogastric tube feeding in infancy, Gray matter heterotopia, Bifid tongue, Exaggerated median to... ORPHA:352665
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Perisylvian polymicrogyria, Small for gestational age, Feeding difficulties in infancy, Failure t... ORPHA:98793
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Intestinal pseudo-obstruction, Weight loss, Dysphagia OMIM:607459
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Perisylvian polymicrogyria, Small for gestational age, Feeding difficulties in infancy, Failure t... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Perisylvian polymicrogyria, Small for gestational age, Feeding difficulties in infancy, Failure t... ORPHA:177901
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Facial palsy, Gastroparesis, Dysphagia OMIM:157640
Autosomal Dominant Progressive External Ophthalmoplegia
Gastroesophageal reflux, Facial palsy, Facial diplegia, Failure to thrive, Constipation, Dysphagi... ORPHA:254892
Prader-Willi-Like Syndrome
Perisylvian polymicrogyria, Small for gestational age, Feeding difficulties in infancy, Failure t... ORPHA:398073
Acute Transverse Myelitis
Paralytic ileus, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Con... ORPHA:139417
Congenital Tufting Enteropathy
Elevated fecal osmolality, Vomiting, Chronic diarrhea, Villous atrophy, Abnormal large intestinal... ORPHA:92050
Occipital Horn Syndrome
Gastroesophageal reflux, Poor suck, Abnormal esophagus physiology, Dysphagia, Esophagitis, High, ... ORPHA:198
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroesophageal reflux, Chronic diarrhea, Gastrostomy tube feeding in infancy, Optic atrophy, Si... ORPHA:500150
Eosinophilic Gastroenteritis
Vomiting, Diarrhea, Weight loss, Abnormality of the gastrointestinal tract, Malabsorption, Abdomi... ORPHA:2070
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Weight loss, Abdominal distention, Protein-losing enteropathy, Hematochezia ORPHA:103910
Vascular Hyalinosis
Malabsorption, Protein-losing enteropathy, Hematochezia, Diarrhea OMIM:277175
Cardiospondylocarpofacial Syndrome
Gastroesophageal reflux, Feeding difficulties, Failure to thrive, Gastroparesis OMIM:157800
Alpha-Heavy Chain Disease
Malabsorption, Abnormal small intestine morphology, Abdominal pain ORPHA:100025
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Vomiting, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Cachexia, Glossiti... 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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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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