Gene Summary

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

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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Slit Lamp

47 Images

Eye Morphology

Images Ophthalmoscopy

93 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Morphology Embryo E9.5

Images

13 Images

Gross Pathology and Tissue Collection

Images

8 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

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
Renal hypoplasia, Hydronephrosis, Ectopic anus, Urethrovaginal fistula, Renal cyst, Esophageal at... 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
Multiple gastric polyps OMIM:175505
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
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
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Gastric Volvulus, Intrathoracic
Volvulus, Hiatus hernia OMIM:137210
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Megacystis, Volvulus, Es... OMIM:619350
Intrinsic Factor Deficiency
Absence of intrinsic factor, Malabsorption OMIM:261000
Serrated Polyposis Syndrome
Colorectal polyposis, Adenomatous colonic polyposis, Biliary tract neoplasm, Neoplasm of the larg... ORPHA:157798
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
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Stercoral ul... ORPHA:263665
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... ORPHA:1876
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Abnormal stomach morphology, Unilateral renal agenesis ORPHA:281090
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Juvenile gastrointestinal polyposis, Neoplasm of the rectum, Stomach cancer... ORPHA:480536
Ménétrier Disease
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Multiple gastr... ORPHA:2494
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Neoplasm of the stomach, Adenomatous colonic polyposis, A... ORPHA:220460
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal urinary color, Abnormal gastric mucosa morphology ORPHA:234
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Hydroureter, Nephrolithiasis, Vesicoureteral reflux OMIM:617219
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Hydronephrosis, Intestinal pseudo-obstruction, Congenital shortened small intes... OMIM:300048
Gastrointestinal Stromal Tumor
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... ORPHA:44890
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal stom... ORPHA:90291
Bronchogenic Cyst
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Intussusception, Duodenal aden... OMIM:174900
Scleroderma
Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal stomach morphol... ORPHA:801
Nephrotic Syndrome, Type 1
Pyloric stenosis, Congenital nephrotic syndrome, Glomerular sclerosis, Gastroesophageal reflux, D... OMIM:256300
Harrod Syndrome
Hypospadias, Pyloric stenosis, High, narrow palate, High palate, Aganglionic megacolon, Malrotati... OMIM:601095
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
Microgastria-Limb Reduction Defect Syndrome
Horseshoe kidney, Microgastria, Hepatomegaly, Perineal fistula, Rectovaginal fistula, Esophagitis... ORPHA:2538
Epidermolysis Bullosa, Junctional, Herlitz Type
Pyloric stenosis OMIM:226700
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Gastric varix, Splenomegaly, Gastrointestinal hemorrhage ORPHA:64743
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Congenital Tracheal Stenosis
Abnormality of the ureter, Meckel diverticulum, Duodenal atresia, Morphological abnormality of th... ORPHA:141127
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate ORPHA:314575
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Microgastria, Aganglionic megacolon, Pelvic kidney, Int... OMIM:156810
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Reynolds Syndrome
Hepatomegaly, Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux ORPHA:779
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Horseshoe kidney, Pyloric stenosis OMIM:218350
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal stomach morphology, Intussusception, Urinary incontinence, ... ORPHA:512
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Chronic Granulomatous Disease
Pyloric stenosis, Hepatomegaly, Malabsorption, Splenomegaly, Tracheoesophageal fistula ORPHA:379
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hydronephrosis, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Urethral str... ORPHA:79403
Hardikar Syndrome
Bilateral cleft lip and palate, Hepatomegaly, Hydronephrosis, Esophageal varix, Celiac disease, C... OMIM:301068
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Hydronephrosis, Rectal prolapse, Gastroesophageal reflux, Bladder diverticulum OMIM:613177
Esophageal Atresia
Pyloric stenosis, Dysphagia, Cleft palate, Duodenal atresia, Morphological abnormality of the gas... ORPHA:1199
Epidermolysis Bullosa Simplex With Pyloric Atresia
Hydronephrosis, Glomerular sclerosis, Abnormality of the urethra, Ureterocele, Congenital pyloric... ORPHA:158684
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Pyelonephritis, Urethral diverticulum, Small bowel diverticula, Multiple bladde... ORPHA:90349
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Pyloric stenosis, Multicystic kidney dyspl... ORPHA:93111
Viss Syndrome
High, narrow palate, Hydronephrosis, Dysphagia, Malposition of the stomach, High palate, Celiac d... OMIM:619472
Williams Syndrome
Rectal prolapse, Abnormal gastric mucosa morphology, Hypercalciuria, Renovascular hypertension, N... ORPHA:904
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Ectopic anus, Urethrovaginal fistula, Renal cyst, Esophageal at... 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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