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 total body fat amount Dlg2tm1Dsb HOM Early adult 2.36×10-06
decreased circulating LDL cholesterol level Dlg2tm1Dsb HOM Early adult 5.36×10-05
decreased body weight Dlg2tm1Dsb HOM Early adult 6.88×10-08
decreased circulating HDL cholesterol level Dlg2tm1Dsb HOM Early adult 1.24×10-05

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 Skull Lateral Orientation

12 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 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
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... OMIM:246700
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Failure to thrive, Decreased LDL cholesterol concentration, Decreased HDL ch... OMIM:616834
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Failure to thrive, Steatorrhea, Elevated circulating phytanic acid concentra... OMIM:266510
Squalene Synthase Deficiency
Knee flexion contracture, Decreased LDL cholesterol concentration, Elbow flexion contracture, Ele... OMIM:618156
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Failure to thrive, Conjugated hyperbilirubinemia, Steatorrhea OMIM:607765
Potocki-Lupski Syndrome
Hypocholesterolemia, Failure to thrive, Small for gestational age OMIM:610883
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Hypertriglyceridemia, Steatorrhea ORPHA:71
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Decreased body weight, Elevated circulating creatine kin... ORPHA:96180
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Abnormal subcutaneous fat tissue distribution, Steatorrhea, Failure to thriv... OMIM:212065
Alg12-Cdg
Camptodactyly, Failure to thrive, Hyponatremia, Hypocholesterolemia, Abnormal adipose tissue morp... ORPHA:79324
Abetalipoproteinemia
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipoprotein ... ORPHA:14
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive OMIM:244450
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... ORPHA:90363
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia OMIM:223370
Trigeminal Neuralgia
Allodynia ORPHA:221091
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Failure to thrive, Elevated 7-dehydrocholesterol, Hypoalbuminemia OMIM:270400
Benign Schwannoma
Allodynia ORPHA:252164

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.

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

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