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

10 Images

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Eye Morphology

Images Slit Lamp

47 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E9.5

Images

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 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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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
Ectopic anus, Anal atresia, Hypoplasia of penis, Bifid tongue, Urethrovaginal fistula, Renal cyst... 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
Increased level of L-fucose in urine, Stomach cancer OMIM:613659
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
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
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Visceral Myopathy 2
Megacystis, Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Ne... OMIM:619350
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Neoplasm of the large intestine, Colorectal polyposis, Biliary tra... ORPHA:157798
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Gastric varix, Splenomegaly OMIM:613490
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Splenomegaly ORPHA:664
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... ORPHA:263665
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Spo... ORPHA:1876
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Abnormal stomach morphology, Renal insufficiency ORPHA:281090
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Multiple gastric polyps, Stomach cancer, J... ORPHA:480536
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... ORPHA:2494
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Large intestinal polyposis, Duodenal polyposis, Multiple renal cys... ORPHA:220460
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Hydroureter, Nephrolithiasis, Vesicoureteral reflux OMIM:617219
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormal gastric mucosa morphology, Hepatomegaly ORPHA:234
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Hydronephrosis, Intestinal pseudo-obstruction, Congenit... OMIM:300048
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology... ORPHA:90291
Bronchogenic Cyst
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology ORPHA:2357
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Hematochezia, Rectal prolapse,... OMIM:174900
Scleroderma
Chronic kidney disease, Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology... ORPHA:801
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Gastroesophageal reflux, Diffuse mesangial sclerosis, Pyloric sten... OMIM:256300
Microgastria-Limb Reduction Defect Syndrome
Anal atresia, Hiatus hernia, Gastroesophageal reflux, Hepatomegaly, Intestinal malrotation, Trach... ORPHA:2538
Harrod Syndrome
High palate, High, narrow palate, Hypospadias, Malrotation of small bowel, Pyloric stenosis, Rena... OMIM:601095
Hepatoportal Sclerosis
Splenomegaly, Hepatocellular carcinoma, Gastric varix, Esophageal varix, Gastrointestinal hemorrhage ORPHA:64743
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... ORPHA:141127
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia, Urethrovesical occlusion OMIM:226730
Microgastria-Limb Reduction Defects Association
Gastroesophageal reflux, Intestinal malrotation, Unilateral renal agenesis, Cystic renal dysplasi... OMIM:156810
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Hepatomegaly, Xerostomia, Dysphagia ORPHA:779
Metachromatic Leukodystrophy
Abnormal stomach morphology, Intussusception, Abnormal duodenum morphology, Neoplasm of the gallb... ORPHA:512
Chronic Granulomatous Disease
Malabsorption, Hepatomegaly, Splenomegaly, Tracheoesophageal fistula, Pyloric stenosis ORPHA:379
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Ureterocele, Urethral stricture, Hematuria, Congenital pyloric atresia, Hydro... ORPHA:79403
Hardikar Syndrome
Hepatomegaly, Hematemesis, Splenomegaly, Intestinal malrotation, Hydroureter, Hepatosplenomegaly,... OMIM:301068
Epidermolysis Bullosa Simplex With Pyloric Atresia
Ureterocele, Abnormality of the urethra, Congenital pyloric atresia, Hydronephrosis, Glomerular s... ORPHA:158684
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Viss Syndrome
High palate, Chronic gastritis, Gastroesophageal reflux, High, narrow palate, Macroglossia, Right... OMIM:619472
Williams Syndrome
Tracheoesophageal fistula, Rectal prolapse, Proteinuria, Colonic diverticula, Cardiomegaly, Nephr... ORPHA:904
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ectopic anus, Anal atresia, Hypoplasia of penis, Bifid tongue, Urethrovaginal fistula, Renal cyst... 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.

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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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