banner
Genes Phenotypes Help, News, Blog

Gene: Dync1i2 MGI:107750

Log in to follow

Gene Summary

Name:
dynein cytoplasmic 1 intermediate chain 2
Synonyms:
3110079H08Rik,  Dncic2

Order Alleles

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
decreased circulating cholesterol level Dync1i2tm1a(EUCOMM)Wtsi HET Early adult 8.40×10-05
decreased circulating HDL cholesterol level Dync1i2tm1a(EUCOMM)Wtsi HET Early adult 2.81×10-06
increased leukocyte cell number Dync1i2tm1a(EUCOMM)Wtsi HET Early adult 8.00×10-06
decreased total body fat amount Dync1i2tm1a(EUCOMM)Wtsi HET Early adult 3.42×10-09

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.

Legacy Phenotype Associated Images
Dync1i2tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Dync1i2tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Dync1i2tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Dync1i2tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Dync1i2tm1a(EUCOMM)Wtsi
forearm, HET, Female, WTSI

View all 167 images

Dync1i2tm1a(EUCOMM)Wtsi
WT, Male, WTSI

Human diseases caused by Dync1i2 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 Dync1i2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Inability to walk OMIM:618492

The table below shows human diseases predicted to be associated to Dync1i2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Lipodystrophy, Generalized lipodystrophy... OMIM:612526
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... OMIM:618963
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Squalene Synthase Deficiency
Knee flexion contracture, Decreased LDL cholesterol concentration, Elbow flexion contracture, Ele... OMIM:618156
Analbuminemia
Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr... OMIM:616000
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea OMIM:607765
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea, Elevated circulating phytanic acid concentration OMIM:266510
Chylomicron Retention Disease
Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemia, Steatorrhea ORPHA:71
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Abno... ORPHA:96180
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... ORPHA:232
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Apolipoprotein C-Ii Deficiency
Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat... OMIM:207750
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Tangier Disease
Anemia, Hepatosplenomegaly, Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia ORPHA:31150
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Abnormal subcutaneous fat tissue distribution, Steatorrhea, Thrombocytosis, ... OMIM:212065
Abetalipoproteinemia
Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipo... ORPHA:14
Alg12-Cdg
B lymphocytopenia, Camptodactyly, Hyponatremia, Hypocholesterolemia, Thrombocytopenia, Abnormal a... ORPHA:79324
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... OMIM:300908
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Elevated circulating C-reactive protein concentration, Leukocytosis,... OMIM:617099
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... ORPHA:90363
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia, Aplastic anemia, Acute lymphoblastic leukemia OMIM:223370
Hyperlipoproteinemia, Type I
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... OMIM:238600
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:676
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Splenomegaly, Hypoalbuminemia OMIM:270400
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Inability to walk OMIM:618492

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 Dync1i2

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 Dync1i2.

There are 4 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) Dync1i2tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dync1i2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Dync1i2tm1a(EUCOMM)Wtsi PMC6459510
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. Proceedings of the National Academy of Sciences of the United States of America (October 2017) Dync1i2tm1a(EUCOMM)Wtsi PMC5676932

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Dync1i2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dync1i2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter