banner
Genes Phenotypes Help, News, Blog

Gene: Dmxl2 MGI:2444630

Log in to follow

Gene Summary

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

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
preweaning lethality, complete penetrance Dmxl2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased bone mineral content Dmxl2tm1a(EUCOMM)Wtsi HET Early adult 4.38×10-07
decreased lean body mass Dmxl2tm1a(EUCOMM)Wtsi HET Early adult 2.86×10-05
decreased circulating cholesterol level Dmxl2tm1a(EUCOMM)Wtsi HET Early adult 4.53×10-05
increased total body fat amount Dmxl2tm1a(EUCOMM)Wtsi HET Early adult 2.16×10-05

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 Whole Body Dorso Ventral

14 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images
X-ray

XRay Images Forepaw

14 Images

View images
X-ray

XRay Images Skull Lateral Orientation

14 Images

View images
Legacy Phenotype Associated Images
Dmxl2tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Dmxl2tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Dmxl2tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Dmxl2tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Dmxl2tm1a(EUCOMM)Wtsi
WT, Female, WTSI

View all 220 images

Dmxl2tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Dmxl2tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Dmxl2tm1a(EUCOMM)Wtsi
forelimb, WT, Female, WTSI
Dmxl2tm1a(EUCOMM)Wtsi
hindlimb, WT, Female, WTSI
Dmxl2tm1a(EUCOMM)Wtsi
abnormal tail tip morphology, abnormal tail morphology, WT, Female, WTSI

View all 8 images

Dmxl2tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

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
Failure to thrive, Umbilical hernia ORPHA:1934
Polyendocrine-Polyneuropathy Syndrome
Elevated hemoglobin A1c 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
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
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati... OMIM:616834
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia OMIM:610539
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Osteoporosis, Elevated circulating phytanic acid concentration, Failure to thrive, H... OMIM:266510
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Failure to thrive, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met... OMIM:618156
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Hypocholesterolemia, Hypoalbuminemia, Lipodystrophy OMIM:608776
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Hypocholesterolemia ORPHA:71
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Abnormal subcutaneous fat tissue distribution, Steatorrhea, Failure to thrive, Flexio... OMIM:212065
Alg12-Cdg
Abnormal bone ossification, Abnormal adipose tissue morphology, Camptodactyly, Failure to thrive,... ORPHA:79324
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, ... ORPHA:96180
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Abetalipoproteinemia
Osteopenia, Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilir... ORPHA:14
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia OMIM:223370
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Elevated circulating 7-dehydrocholesterol concentration, Failure to thrive,... OMIM:270400
Early Infantile Epileptic Encephalopathy
Failure to thrive, Umbilical hernia ORPHA:1934
Polyendocrine-Polyneuropathy Syndrome
Elevated hemoglobin A1c 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

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
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

The IMPC Newsletter

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

Subscribe to newsletter