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Gene: H2-M5 MGI:95917

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Gene Summary

Name:
histocompatibility 2, M region locus 5
Synonyms:
H-2M5,  CRW2,  D130003B22Rik

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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 circulating alkaline phosphatase level H2-M5tm1(KOMP)Wtsi HOM Early adult 7.15×10-05
increased heart weight H2-M5tm1(KOMP)Wtsi HOM   Early adult 9.77×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 3)
Bone N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 0.0% (0 of 3)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote 0.0% (0 of 3)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 3)
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote 0.0% (0 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 0.0% (0 of 3)
Spinal cord N/A heterozygote 0.0% (0 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 66.67% (2 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
H2-M5tm1(KOMP)Wtsi
head, HOM, Male, WTSI
H2-M5tm1(KOMP)Wtsi
head, HOM, Male, WTSI
H2-M5tm1(KOMP)Wtsi
body, HOM, Male, WTSI
H2-M5tm1(KOMP)Wtsi
body, HOM, Male, WTSI
H2-M5tm1(KOMP)Wtsi
head, HOM, Male, WTSI

View all 74 images

H2-M5tm1(KOMP)Wtsi
eye, cornea/lens fusion, corneal opacity, abnormal pupil morphology, abnormal placement of pupils, impaired pupillary reflex, HOM, Female, WTSI
H2-M5tm1(KOMP)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by H2-M5 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 H2-M5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Ab... ORPHA:3287
Behçet Disease
Splenomegaly, Abnormal myocardium morphology, Pericarditis, Endocarditis ORPHA:117
Stevens-Johnson Syndrome
Abnormal myocardium morphology ORPHA:36426
Giant Cell Arteritis
Pericarditis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... ORPHA:397
Reactive Arthritis
Pericarditis ORPHA:29207
Psoriasis 1, Susceptibility To
OMIM:177900
Asthma, Susceptibility To
OMIM:600807
Spondyloarthropathy, Susceptibility To, 1
OMIM:106300

The table below shows human diseases predicted to be associated to H2-M5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... ORPHA:85451
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Ab... ORPHA:3287
Behçet Disease
Splenomegaly, Abnormal myocardium morphology, Pericarditis, Endocarditis ORPHA:117
Stevens-Johnson Syndrome
Abnormal myocardium morphology ORPHA:36426
Giant Cell Arteritis
Pericarditis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... ORPHA:397
Reactive Arthritis
Pericarditis ORPHA:29207
Psoriasis 1, Susceptibility To
OMIM:177900
Asthma, Susceptibility To
OMIM:600807
Spondyloarthropathy, Susceptibility To, 1
OMIM:106300

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 H2-M5

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 H2-M5.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) H2-M5tm1(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) H2-M5tm1(KOMP)Wtsi PMC6459510

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
H2-M5tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
H2-M5tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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