Gene Summary

Name:
discs large MAGUK scaffold protein 2
Synonyms:
Dlgh2,  LOC382816,  A330103J02Rik,  B230218P12Rik,  B330007M19Rik,  PSD93,  Gm21505,  Chapsyn-110

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 body weight Dlg2tm1Dsb HOM Early adult 6.88×10-08
decreased circulating HDL cholesterol level Dlg2tm1Dsb HOM Early adult 7.31×10-06
decreased total body fat amount Dlg2tm1Dsb HOM Early adult 2.36×10-06

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

16 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Forepaw

14 Images

Legacy Phenotype Associated Images

View all 198 images

Human diseases caused by Dlg2 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 Dlg2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... OMIM:246700
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypocholesterolemia, Increased circulating farnesol concentration, ... OMIM:618156
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:266510
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Steatorrhea, Hypocholesterolemia, Hyperbilirubinemia OMIM:607765
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Steatorrhea ORPHA:71
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Hypocholesterolemia, Abetalipoproteinemia, De... ORPHA:96180
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hypocholesterolemia, Abnormal subcutaneous fat tissue distribution, Flexion co... OMIM:212065
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Abnormal adipose tissue mo... ORPHA:79324
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Failure to thrive, Hypocholesterolemia, Abnormal circula... 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
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, S... ORPHA:90363
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Smith-Lemli-Opitz Syndrome
Failure to thrive, Hypocholesterolemia, Elevated 7-dehydrocholesterol OMIM:270400

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 Dlg2

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 Dlg2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dlg2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dlg2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dlg2tm1Dsb Reporter-tagged deletion allele (with selection cassette) ES Cells
Dlg2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dlg2tm42053(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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