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Gene: Dmxl2 MGI:2444630

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Gene Summary

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

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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 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
preweaning lethality, complete penetrance Dmxl2tm1a(EUCOMM)Wtsi 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 Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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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
Umbilical hernia, Failure to thrive 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 circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia, Steatorrhea, Failu... OMIM:246700
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia OMIM:610539
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... OMIM:616834
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... OMIM:266510
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hypocholesterolemia, Failure to thrive OMIM:607765
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... OMIM:618156
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Hypocholesterolemia OMIM:610883
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Steatorrhea, Hypertriglyceridemia ORPHA:71
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, ... OMIM:212065
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Abnormal adipose tissue morphology, Abnormal bone ossification, Fa... ORPHA:79324
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Ste... ORPHA:14
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Dubowitz Syndrome
Inguinal hernia, Hypocholesterolemia OMIM:223370
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, H... OMIM:270400
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Failure to thrive 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

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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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