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Gene: Dync2i1 MGI:2445085

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Gene Summary

Name:
dynein 2 intermediate chain 1
Synonyms:
Wdr60,  D430033N04Rik,  Dync2l1

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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
abnormal stomach morphology Dync2i1em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Dync2i1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal embryo size Dync2i1em1(IMPC)Tcp HOM E9.5 0.00
embryonic growth retardation Dync2i1em1(IMPC)Tcp HOM E9.5 0.00
abnormal heart morphology Dync2i1em1(IMPC)Tcp HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Dync2i1em1(IMPC)Tcp HOM   E12.5 0.00
enlarged urinary bladder Dync2i1em1(IMPC)Tcp HET Early adult 0.00
prenatal lethality prior to heart atrial septation Dync2i1em1(IMPC)Tcp HOM   E15.5 0.00

Download data as:  TSV  XLS

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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.

Eye Morphology

Images Ophthalmoscopy

93 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

47 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Gross Morphology Embryo E9.5

Images

13 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Human diseases caused by Dync2i1 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 Dync2i1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Renal hypoplasia, Renal cyst, Ec... ORPHA:93271
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Short stature OMIM:615503
Jeune Syndrome
Short stature ORPHA:474

The table below shows human diseases predicted to be associated to Dync2i1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gastric Cancer
Stomach cancer, Increased level of L-fucose in urine OMIM:613659
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... ORPHA:157798
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Gastric varix, Hepatocellular carcinoma OMIM:613490
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Aminoaciduria ORPHA:664
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Rena... ORPHA:480536
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology ORPHA:281090
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Pyloric stenosis, Hydroureter, Nephrolithiasis OMIM:617219
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Familial Adenomatous Polyposis 4
Duodenal polyposis, Adenomatous colonic polyposis, Renal cyst, Gastric adenocarcinoma OMIM:617100
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Abnormal urinary color, Hepatomegaly ORPHA:234
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... OMIM:300048
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Bronchogenic Cyst
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... ORPHA:90291
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Intestinal malrotation, Hiatus hernia, Esophageal atr... ORPHA:2538
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Pyl... OMIM:256300
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Splenomegaly, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Congenital Tracheal Stenosis
Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophageal fistula, Duodenal steno... ORPHA:141127
Muir-Torre Syndrome
Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm ORPHA:587
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux, Dysphagia ORPHA:779
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum... ORPHA:512
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Ureteroc... ORPHA:79403
Chronic Granulomatous Disease
Hepatomegaly, Malabsorption, Pyloric stenosis, Splenomegaly, Tracheoesophageal fistula ORPHA:379
Hardikar Syndrome
Hepatomegaly, Renal insufficiency, Hydroureter, Cleft soft palate, Intestinal malrotation, Celiac... OMIM:301068
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urethra, Congenital pyloric atresia, Ureterocele, Glomerular sclerosis, Hydron... ORPHA:158684
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Williams Syndrome
Hypoplasia of penis, Cardiomegaly, Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Ve... ORPHA:904
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Renal hypoplasia, Renal cyst, Ec... ORPHA:93271
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Short stature OMIM:615503
Jeune Syndrome
Short stature ORPHA:474

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 Dync2i1

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 Dync2i1.

No publications found that use IMPC mice or data for Dync2i1.

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
Dync2i1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dync2i1em1(IMPC)Tcp Exon Deletion Mice
Dync2i1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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