Gene Summary

Name:
Dmx-like 2
Synonyms:
E130119P06Rik,  6430411K14Rik

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 lean body mass Dmxl2tm1a(EUCOMM)Wtsi HET Early adult 2.87×10-05
decreased circulating cholesterol level Dmxl2tm1a(EUCOMM)Wtsi HET Early adult 4.53×10-05
preweaning lethality, complete penetrance Dmxl2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased total body fat amount Dmxl2tm1a(EUCOMM)Wtsi HET Early adult 2.16×10-05
decreased bone mineral content Dmxl2tm1a(EUCOMM)Wtsi HET Early adult 4.80×10-07

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 Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Legacy Phenotype Associated Images

View all 220 images

View all 8 images

Human diseases caused by Dmxl2 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 Dmxl2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Failure to thrive ORPHA:1934
Polyendocrine-Polyneuropathy Syndrome
OMIM:616113
Deafness, Autosomal Dominant 71
OMIM:617605
Developmental And Epileptic Encephalopathy 81
OMIM:618663
Polyendocrine-Polyneuropathy Syndrome
ORPHA:453533

The table below shows human diseases predicted to be associated to Dmxl2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia,... OMIM:246700
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Osteopenia OMIM:610539
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Hypocholesterolemia, Decreased LDL ch... OMIM:616834
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Osteoporosis, Steatorrhea OMIM:266510
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Osteoporosis... OMIM:616000
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Increased circulating farnesol concentrat... OMIM:618156
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hyperbilirubinemia, Hypocholesterolemia, Rickets, Steatorrhea OMIM:607765
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Failure to thrive, Hyperbil... OMIM:605814
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Steatorrhea ORPHA:71
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Flexion contracture, Abnormal subcutaneous fat tissue distribution, Failure to thrive... OMIM:212065
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Alg12-Cdg
Hyponatremia, Abnormal bone ossification, Failure to thrive, Abnormal adipose tissue morphology, ... ORPHA:79324
Abetalipoproteinemia
Osteopenia, Hypotriglyceridemia, Decreased HDL cholesterol concentration, Failure to thrive, Hype... ORPHA:14
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Hypocholesterolemia, Elevated 7-dehydrocholesterol, Failure to thrive OMIM:270400
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Failure to thrive ORPHA:1934
Polyendocrine-Polyneuropathy Syndrome
OMIM:616113
Deafness, Autosomal Dominant 71
OMIM:617605
Developmental And Epileptic Encephalopathy 81
OMIM:618663
Polyendocrine-Polyneuropathy Syndrome
ORPHA:453533

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 Dmxl2

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 Dmxl2.

There are 8 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) Dmxl2tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dmxl2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Dmxl2tm1a(EUCOMM)Wtsi PMC6459510
Dual role of DMXL2 in olfactory information transmission and the first wave of spermatogenesis. PLoS genetics (February 2019) Dmxl2tm1a(EUCOMM)Wtsi PMC6383954
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) Dmxl2tm1a(EUCOMM)Wtsi PMC5676932
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Dmxl2tm1a(EUCOMM)Wtsi PMC5827107
Rabconnectin-3α is required for the morphological maturation of GnRH neurons and kisspeptin responsiveness. Scientific reports (February 2017) Dmxl2tm1c(EUCOMM)Wtsi PMC5314327
Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse. PLoS biology (September 2014) Dmxl2tm1c(EUCOMM)Wtsi Dmxl2tm1a(EUCOMM)Wtsi PMC4172557

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MGI Allele Allele Type Produced
Dmxl2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dmxl2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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