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Gene: Ercc3 MGI:95414

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Gene Summary

Name:
excision repair cross-complementing rodent repair deficiency, complementation group 3
Synonyms:
XPB

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
preweaning lethality, complete penetrance Ercc3tm1b(NCOM)Mfgc HOM   Early adult 0.00
decreased mean corpuscular hemoglobin Ercc3tm1b(NCOM)Mfgc HET Early adult 1.88×10-05
embryonic lethality prior to organogenesis Ercc3tm1b(NCOM)Mfgc HOM   E9.5 0.00
decreased prepulse inhibition Ercc3tm1b(NCOM)Mfgc HET Early adult 3.99×10-07
embryonic lethality prior to tooth bud stage Ercc3tm1b(NCOM)Mfgc HOM   E12.5 0.00
increased circulating potassium level Ercc3tm1b(NCOM)Mfgc HET Early adult 1.17×10-05

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lacZ Expression

No Adult expression data was found for this gene.

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 100% (2 of 2)
Brain N/A heterozygote 33.33% (2 of 6)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 33.33% (2 of 6)
Embryo N/A heterozygote 100% (6 of 6)
Eye N/A heterozygote 33.33% (2 of 6)
Footplate N/A heterozygote 33.33% (2 of 6)
Forebrain N/A heterozygote 33.33% (2 of 6)
Forelimb N/A heterozygote 33.33% (2 of 6)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 33.33% (2 of 6)
Head N/A heterozygote 33.33% (2 of 6)
Heart N/A heterozygote 33.33% (2 of 6)
Hindbrain N/A heterozygote 33.33% (2 of 6)
Hindlimb N/A heterozygote 33.33% (2 of 6)
Liver N/A heterozygote 33.33% (2 of 6)
Lung N/A heterozygote 33.33% (2 of 6)
Mandibular process N/A heterozygote 33.33% (2 of 6)
Maxillary process N/A heterozygote 33.33% (2 of 6)
Midbrain N/A heterozygote 33.33% (2 of 6)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 33.33% (2 of 6)
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 33.33% (2 of 6)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 33.33% (2 of 6)
Tail N/A heterozygote 33.33% (2 of 6)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)

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)
placenta 16.67% (7 of 42)
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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

24 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Histopathology

Images

1 Images

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Human diseases caused by Ercc3 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 Ercc3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Xeroderma Pigmentosum
Hyperkeratosis ORPHA:910
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia ORPHA:33364
Trichothiodystrophy 2, Photosensitive
OMIM:616390
Xeroderma Pigmentosum, Complementation Group B
OMIM:610651
Xeroderma Pigmentosum-Cockayne Syndrome Complex
ORPHA:220295

The table below shows human diseases predicted to be associated to Ercc3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Familial Pseudohyperkalemia
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... ORPHA:90044
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:610600
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Superficial Epidermolytic Ichthyosis
Acantholysis, Palmoplantar keratoderma ORPHA:455
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:203400
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Hyperchloremia, Hyperkalemia OMIM:614492
Liddle Syndrome 3
Hypokalemia OMIM:618126
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... ORPHA:848
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise ORPHA:57
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:556037
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... OMIM:611590
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyp... ORPHA:99845
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:556030
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Congenital Isolated Acth Deficiency
Hyperkalemia, Hyponatremia ORPHA:199296
Pemphigus Vulgaris
Acantholysis ORPHA:704
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Mirage Syndrome
Leukopenia, Anemia, Hyperkalemia, Lymphopenia, Thrombocytopenia, Hyponatremia, Hypoplastic spleen OMIM:617053
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Anemia OMIM:611489
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:171876
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Follicular hyperkeratosis OMIM:616295
Skin Fragility-Woolly Hair Syndrome
Acantholysis, Palmoplantar hyperkeratosis OMIM:607655
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Acantholysis, Palmoplantar keratoderma, Orthokeratosis OMIM:615508
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Hemolytic anemia, Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:608885
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Normocytic anemia, Hyperkalemia, Hypercalcemia, Macrocytic anemia, Eosinophilia, H... ORPHA:199299
Renal Hypoplasia, Bilateral
Anemia, Hyperkalemia, Hyponatremia ORPHA:97362
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... ORPHA:94093
Darier-White Disease
Acantholysis, Subungual hyperkeratotic fragments OMIM:124200
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Fatigable weakness of respiratory muscles, Mildly elevated creatine kinase ORPHA:681
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elevated hepatic iron concentration, ... ORPHA:231222
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Liddle Syndrome
Hypokalemia ORPHA:526
Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:427
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia OMIM:300971
Birk-Landau-Perez Syndrome
Increased circulating creatine kinase MB isoform, Hyperkalemia OMIM:617595
Pemphigus Erythematosus
Acantholysis ORPHA:79480
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Acute Adrenal Insufficiency
Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia,... ORPHA:95409
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Anemia, Hypersplenism, Hyperkalemia, Hepatosplenomegaly, Bone-marrow foam c... ORPHA:275761
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis OMIM:609638
Naxos Disease
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Subungual hyperkeratosis, Acantholysis, Palm... OMIM:601214
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... ORPHA:231226
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Beta-Thalassemia Major
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... ORPHA:231214
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:90791
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise ORPHA:423
Addison Disease
Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Thiamine-respo... ORPHA:85138
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyperkalemia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Hyponatremia, Abnormal lymph... ORPHA:293978
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Warty Dyskeratoma
Acantholysis ORPHA:69745
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... ORPHA:31824
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Iga Pemphigus
Acantholysis ORPHA:555905
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Hypocalcemia, Hyperkalemia, Leukocytosis, Hyponatremia, Thrombocytopenia ORPHA:544482
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... ORPHA:90038
Hemorrhagic Fever-Renal Syndrome
Anemia, Hyperphosphatemia, Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentrat... ORPHA:340
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Pemphigus Foliaceus
Acantholysis ORPHA:79481
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Juvenile Polyposis Syndrome
Hypokalemia, Anemia, Hypoalbuminemia OMIM:174900
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinase concentration... ORPHA:466650
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Increased circulating renin level, Hyperkalemia, Abnormal circulating cholesterol concentration, ... ORPHA:168558
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Increased circulating renin level, Hyperkalemia, Abnormal circulating cholesterol concentration, ... ORPHA:289548
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Lethal Acantholytic Erosive Disorder
Acantholysis ORPHA:158687
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... OMIM:613095
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
East Syndrome
Hypokalemia, Hypomagnesemia, Increased circulating renin level ORPHA:199343
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein ORPHA:423479
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Lead Poisoning
Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Increased LDL cholesterol co... ORPHA:330015
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Hepatocellular Carcinoma
Anemia, Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypercalcemia, Hyponatremi... ORPHA:88673
Osteootohepatoenteric Syndrome
Hypokalemia, Anemia, Increased serum bile acid concentration OMIM:619377
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Thymoma
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia ORPHA:99867
Cholera
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia ORPHA:173
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... ORPHA:411634
Pearson Syndrome
Anemia, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Reticulocytosis, Pancytopen... ORPHA:699
Stevens-Johnson Syndrome
Acantholysis ORPHA:36426
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperkalemia, Hyperlipidemia, Hyponatremia ORPHA:293987
Toxic Epidermal Necrolysis
Acantholysis ORPHA:537
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hyponatremia, Hypocalcemia, Splenomegaly OMIM:617913
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Mercury Poisoning
Hypokalemia ORPHA:330021
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:301040
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypochloremia, Hyperkalemia, Hyponatremia ORPHA:90794
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Hypomagnesemia, Increased circulating renin level OMIM:612780
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level OMIM:607364
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, Hypokalemia, Lymphopenia, Decreased proportion of CD4-... OMIM:619573
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Infantile Nephropathic Cystinosis
Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration ORPHA:411629
Gitelman Syndrome
Hypokalemia, Hypomagnesemia, Increased circulating renin level OMIM:263800
Primary Fanconi Renotubular Syndrome
Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Hypophosphatemic rickets, Bicarbonatur... ORPHA:3337
Marburg Hemorrhagic Fever
Leukopenia, Hypokalemia, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase conce... ORPHA:99826
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... OMIM:601678
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Vipoma
Hypokalemia, Hypercalcemia, Normochromic anemia ORPHA:97282
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Decreased plasma carnitine, Hypophosphatemia, Hypokalemia, Hypophosp... OMIM:219800
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating renin level, Hyperkalemia, Hyponatremia OMIM:201750
Bartter Syndrome Type 4
Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, Hypomagnesemia ORPHA:89938
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Iron deficiency anemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Rabson-Mendenhall Syndrome
Hypokalemia, Increased C-peptide level ORPHA:769
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hyponatremia, Hypophosphatemia, Hypokalemia, Hypercholesterolemia, Hypoammonemia, Thrombo... ORPHA:534
Distal Renal Tubular Acidosis
Hypokalemia, Hemolytic anemia ORPHA:18
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90793
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Acantholysis, Renal tubular epithelial necrosis ORPHA:95455
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... OMIM:241200
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Scorpion Envenomation
Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP co... ORPHA:466677
Nelson Syndrome
Hypokalemia ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia ORPHA:47159
Leprechaunism
Hypokalemia, Increased circulating renin level ORPHA:508
Vascular Ehlers-Danlos Syndrome
Hypokalemia ORPHA:286
Xeroderma Pigmentosum
Hyperkeratosis ORPHA:910
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia ORPHA:33364
Trichothiodystrophy 2, Photosensitive
OMIM:616390
Xeroderma Pigmentosum, Complementation Group B
OMIM:610651
Xeroderma Pigmentosum-Cockayne Syndrome Complex
ORPHA:220295

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 Ercc3

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 Ercc3.

No publications found that use IMPC mice or data for Ercc3.

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MGI Allele Allele Type Produced
Ercc3tm1a(NCOM)Mfgc KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ercc3tm1b(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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