Gene Summary

Name:
DEAD box helicase 46
Synonyms:
8430438J23Rik,  2200005K02Rik,  DEAD (Asp-Glu-Ala-Asp) box polypeptide 46

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 lethality prior to organogenesis Ddx46em1(IMPC)Tcp HOM   E9.5 0.00
enlarged lymph nodes Ddx46em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Ddx46em1(IMPC)Tcp HOM   Early adult 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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

106 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Slit Lamp

95 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Ddx46 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ddx46 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Follicular hyperplasia OMIM:619126
Acute Lung Injury
Sepsis, Abnormality of serum cytokine level, Increased circulating surfactant protein level, Incr... ORPHA:178320
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Adult Acute Respiratory Distress Syndrome
Sepsis, Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abno... ORPHA:70578
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Reduced natural killer ... ORPHA:540
Macrophage Activation Syndrome
Increased circulating interleukin 6, Increased circulating ferritin concentration, Hypertriglycer... ORPHA:158061
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia OMIM:602450
Sweet Syndrome
Increased circulating interleukin 6, Recurrent infections, Abnormal serum interleukin level, Elev... ORPHA:3243
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Increased circulating interleukin 6, Elevated circulating cr... ORPHA:542323
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Aregenerative Anemia
Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Increased circulating interleukin 6, Abnormality of chemokine secreti... ORPHA:544482

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 Ddx46

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 Ddx46.

No publications found that use IMPC mice or data for Ddx46.

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MGI Allele Allele Type Produced
Ddx46em1(IMPC)Tcp Exon Deletion Mice

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