Gene Summary

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

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

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

Legacy Phenotype Associated Images

View all 167 images

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
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissu... OMIM:612526
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Congenital Disorder Of Glycosylation, Type Il
Splenomegaly, Hypoalbuminemia, Hypocholesterolemia, Lipodystrophy OMIM:608776
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met... OMIM:618156
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Chylomicron Retention Disease
Steatorrhea, Acanthocytosis, Hypocholesterolemia ORPHA:71
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Decreased LDL cholester... ORPHA:96180
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Flexion contracture, Hypoalbuminemia,... OMIM:212065
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Tangier Disease
Hypertriglyceridemia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hypocholesterolemia ORPHA:31150
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemi... OMIM:300908
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Hypotriglyceridemia, Hyperbilirubin... ORPHA:14
Alg12-Cdg
Abnormal adipose tissue morphology, B lymphocytopenia, Camptodactyly, Hyponatremia, Thrombocytope... ORPHA:79324
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Elevated circulating C-reactive protein concentration, Increased proportion of CD4-... OMIM:617099
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Lymphopenia, Reduce... ORPHA:90363
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Anal Fistula
Cellulitis, Leukocytosis ORPHA:228113
Dubowitz Syndrome
Aplastic anemia, Hypocholesterolemia, Acute lymphoblastic leukemia, Inguinal hernia OMIM:223370
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... ORPHA:232
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Sp... 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.

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

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