Gene Summary

Name:
chromobox 4
Synonyms:
PC2,  MPc2

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
abnormal embryo size Cbx4tm1.1(KOMP)Vlcg HET E15.5 0.00
increased total body fat amount Cbx4tm1.1(KOMP)Vlcg HET Early adult 1.62×10-05
preweaning lethality, complete penetrance Cbx4tm1.1(KOMP)Vlcg HOM   Early adult 0.00
hyperactivity Cbx4tm1.1(KOMP)Vlcg HET Early adult 7.43×10-07
decreased lean body mass Cbx4tm1.1(KOMP)Vlcg HET Early adult 2.80×10-07
abnormal embryo size Cbx4tm1.1(KOMP)Vlcg HOM E15.5 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

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (1 of 1)
Aorta N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 4)
N/A Ambiguous
Brain N/A heterozygote 100% (4 of 4)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 0.0% (0 of 4)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 4)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (4 of 4)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (4 of 4)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 4)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (4 of 4)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (4 of 4)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 0.0% (0 of 4)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 4)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 4)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (4 of 4)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (4 of 4)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (4 of 4)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 4)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 4)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 4)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (4 of 4)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (4 of 4)
N/A Ambiguous
Oral cavity N/A heterozygote 100% (4 of 4)
Oral cavity N/A homozygote Ambiguous
Skeleton N/A heterozygote 0.0% (0 of 4)
N/A Ambiguous
Skin N/A heterozygote 0.0% (0 of 4)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (4 of 4)
N/A Ambiguous
Tail somite N/A heterozygote 100% (4 of 4)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (4 of 4)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 4)
N/A Ambiguous
Urinary system N/A heterozygote 0.0% (0 of 4)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Embryo LacZ

LacZ images wholemount

86 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Hind Leg and Hip

14 Images

Adult LacZ

LacZ Images Section

27 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Eye Morphology

Images Slit Lamp

2 Images

Human diseases caused by Cbx4 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 Cbx4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Death in childhood, Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Reticular Dysgenesis
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... OMIM:267500
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly OMIM:616622
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... OMIM:617241
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia, Neonatal death OMIM:257100
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Neonatal death OMIM:273680
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Immunodeficiency 9
Hypoplasia of the thymus, Death in infancy OMIM:612782
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Eosinophilia, Thrombocytopenia, Lymph... OMIM:603554
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in childhood, Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagg... OMIM:243150
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Increased circulating IgE level, Lymphopenia, Aplasi... OMIM:602450
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Isolated Anencephaly
Maternal diabetes, Adrenal hypoplasia, Thymus hyperplasia ORPHA:563609
Peroxisome Biogenesis Disorder 2A (Zellweger)
Death in childhood, Hypoplasia of the thymus, Cryptorchidism OMIM:214110
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Lymphopenia, Reduced delayed hypersensitivity, Abnormally low T cell receptor... OMIM:242700
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Ataxia-Telangiectasia
Hypoplasia of the thymus, Delayed puberty, Decreased circulating IgG2 level, Diabetes mellitus, L... OMIM:208900
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatosplenomegaly, Hypoplasia of the thymus, Cryptorchidism, Intermittent thrombocytopenia, Leuk... OMIM:612541
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Hyperactivity, Obesity OMIM:301013
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Anemia, Lymphopenia, Micr... ORPHA:906
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Decreased circulating IgG2 level, Reduced red cell adenosine dea... OMIM:102700
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Hypoplasia of the thymus, Adrenal hypoplasia, Death in infancy, Accessory spleen OMIM:613177
Syndromic Diarrhea
Hypoplasia of the thymus, Lymphopenia, Panhypogammaglobulinemia, Increased mean platelet volume, ... ORPHA:84064
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Hashimoto thyroiditis, Abnormality of the ductus choledochus, Autoimmun... ORPHA:436252
T-Cell Immunodeficiency With Thymic Aplasia
Oligoclonal T cell expansion, T lymphocytopenia, Decreased proportion of naive T cells, Lymphaden... ORPHA:83471
Eec Syndrome
Hypoplasia of the thymus, Hypohidrosis, Xerostomia, Decreased response to growth hormone stimulat... ORPHA:1896
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Cryptorchidism, Hypoparathyroidism, Hyperthyroidism, Impaired T cell fu... ORPHA:567
Treacher-Collins Syndrome
Hypoplasia of the thymus, Cryptorchidism, Abnormality of the adrenal glands, Thyroid hypoplasia ORPHA:861
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Digeorge Syndrome
Hypoplasia of the thymus, Parathyroid hypoplasia, Decreased circulating parathyroid hormone level... OMIM:188400
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Thymus hyperplasia OMIM:619036
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hashimoto thyroiditis, Hypoparathyroidism, Decreased response to growth hormone stimulation test,... OMIM:618223
Proteus-Like Syndrome
Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly, Thymus hyperplasia ORPHA:2969
Histidinemia
Hyperactivity ORPHA:2157
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Agitation, Hyperactivity, Weight loss ORPHA:424
Monosomy 22
Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia, Hyperhidrosis ORPHA:96123
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Weight loss ORPHA:99819
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Increased serum testosterone level, Cryptorchidism OMIM:264090
Truncus Arteriosus
Hypoplasia of the thymus, Adrenocortical abnormality ORPHA:3384
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Hypothyroidism, Hypoplastic nipples, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele ... OMIM:620186
Proteus Syndrome
Diabetes insipidus, Neoplasm of the thymus, Thymus hyperplasia, Ovarian neoplasm, Macroorchidism,... ORPHA:744

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 Cbx4

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 Cbx4.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cbx4 Sumoylates Prdm16 to Regulate Adipose Tissue Thermogenesis. Cell reports (March 2018) Cbx4tm1(KOMP)Vlcg PMC5877417

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cbx4tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Cbx4tm380190(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cbx4tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cbx4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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