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Gene: Chek2 MGI:1355321

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Gene Summary

Name:
checkpoint kinase 2
Synonyms:
Rad53,  CHK2

Order Alleles

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
increased circulating sodium level Chek2tm1b(EUCOMM)Hmgu HOM Early adult 3.92×10-09

Download data as:  TSV  XLS

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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 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue 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)
Epididymis 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 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas 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 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder 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)
Vesicular gland N/A heterozygote Not available
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
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

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%
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 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%
main olfactory bulb 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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 Dorso Ventral

11 Images

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X-ray

XRay Images Forepaw

11 Images

View images
X-ray

XRay Images Skull Lateral Orientation

11 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images
Sleep Wake

Wake state (bmp file)

16 Images

View images
Embryo LacZ

LacZ images wholemount

4 Images

View images
Eye Morphology

Images Ophthalmoscopy

12 Images

View images
Adult LacZ

LacZ Images Section

3 Images

View images
Combined SHIRPA and Dysmorphology

Images

1 Images

View images
PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

4 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Human diseases caused by Chek2 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 Chek2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre... ORPHA:145
Prostate Cancer
Prostate cancer OMIM:176807
Familial Colorectal Cancer Type X
Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach ca... ORPHA:440437
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Osteosarcoma
ORPHA:668

The table below shows human diseases predicted to be associated to Chek2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... OMIM:615751
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... ORPHA:3008
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycinemia, Hypernatremia OMIM:620423
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia OMIM:608688
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Snakebite Envenomation
Hyponatremia ORPHA:449285
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Hartsfield Syndrome
Hypernatremia OMIM:615465
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:613090
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Alg8-Cdg
Hyponatremia ORPHA:79325
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia ORPHA:97362
Infant Botulism
Hyponatremia ORPHA:178478
Mirage Syndrome
Hyponatremia, Hyperkalemia OMIM:617053
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Legionnaires Disease
Hyponatremia ORPHA:549
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia ORPHA:361
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis OMIM:617913
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Whipple Disease
Hyponatremia ORPHA:3452
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level ORPHA:95409
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Adenohypophysitis
Hyponatremia ORPHA:95512
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:602522
Panhypophysitis
Hyponatremia ORPHA:95513
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:610505
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level ORPHA:89938
Japanese Encephalitis
Hyponatremia ORPHA:79139
Pituitary Apoplexy
Hyponatremia ORPHA:95613
Familial Dysautonomia
Hyponatremia ORPHA:1764
Shigellosis
Hyponatremia, Abnormal blood ion concentration ORPHA:810
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
Addison Disease
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level ORPHA:85138
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hyperkalemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:275761
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:167
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale... OMIM:219800
Sheehan Syndrome
Hyponatremia ORPHA:91355
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia ORPHA:293978
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Holoprosencephaly
Hyponatremia ORPHA:2162
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... OMIM:619991
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration ORPHA:731
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia ORPHA:293987
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Decreased circulating renin level OMIM:201750
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle OMIM:227646
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre... ORPHA:145
Prostate Cancer
Prostate cancer OMIM:176807
Familial Colorectal Cancer Type X
Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach ca... ORPHA:440437
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Osteosarcoma
ORPHA:668

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 Chek2

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 Chek2.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Checkpoint kinase 2 controls insulin secretion and glucose homeostasis. Nature chemical biology (November 2023) Chek2tm1b(EUCOMM)Hmgu 37945898
CHEK2 signaling is the key regulator of oocyte survival after chemotherapy. Science advances (October 2023) Chek2tm1b(EUCOMM)Hmgu PMC10588956
SMC5/6 is required for replication fork stability and faithful chromosome segregation during neurogenesis. eLife (November 2020) Chek2tm1b(EUCOMM)Hmgu PMC7723410
Sexual dimorphism in the meiotic requirement for PRDM9: A mammalian evolutionary safeguard. Science advances (October 2020) Chek2tm1b(EUCOMM)Hmgu/ PMC7608834

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Chek2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Chek2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Chek2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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