Gene Summary

NECAP endocytosis associated 2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 mean corpuscular hemoglobin Necap2em1(IMPC)J HOM Early adult 3.05×10-16
decreased circulating calcium level Necap2em1(IMPC)J HOM Early adult 5.61×10-06
decreased mean corpuscular volume Necap2em1(IMPC)J HOM Early adult 5.88×10-13
abnormal auditory brainstem response Necap2em1(IMPC)J HOM   Early adult 9.17×10-05

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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.


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Forepaw

10 Images

Electrocardiogram (ECG)

Waveform Image

15 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

10 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Necap2 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 Necap2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... OMIM:205950
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly, Hearing i... OMIM:619658
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Anemia ORPHA:100025
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased m... OMIM:261000
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Reticulocytosis, Hyperkalemia, Increased mean corpuscular volume, Stom... ORPHA:90044
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... OMIM:616689
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Sensorineural hearing impairment, Hypercalcemia, Anemia ORPHA:2668
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:3319
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Persistence of hemoglobin F, Atresia of the external auditory cana... OMIM:300946
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Intermediate Osteopetrosis
Hepatosplenomegaly, Anemia, Optic atrophy from cranial nerve compression, Cranial nerve compressi... ORPHA:210110
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Refractory Celiac Disease
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Mi... ORPHA:398063
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... ORPHA:3202
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Splenomegaly OMIM:612526
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased total iron binding capacity, Inc... ORPHA:98870
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Albers-Sch├Ânberg Osteopetrosis
Anemia, Hearing impairment, Facial palsy, Hypocalcemia, Abnormal leukocyte morphology, Optic atrophy ORPHA:53
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Decreased mean corpuscular volume, Hypochromia, Increased serum iron, Erythroid hyperplas... OMIM:206100
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94090
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias OMIM:620044
Hypercalcemia ORPHA:55881
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly ORPHA:846
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... OMIM:616648
Abcd Syndrome
Polycythemia, Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal... OMIM:600501
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Hypocalcemia ORPHA:163693
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Osteopetrosis, Autosomal Recessive 1
Anemia, Hearing impairment, Facial palsy, Thrombocytopenia, Hypocalcemia, Pancytopenia, Optic atr... OMIM:259700
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia OMIM:618849
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Sensorineural hearing impairment, Hypocalcemia, Neutropenia ORPHA:47
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Anemia OMIM:244460
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... OMIM:613673
Ring Chromosome 10 Syndrome
Low-set ears, Abnormal antihelix morphology, Aganglionic megacolon, Hypocalcemia, Large earlobe ORPHA:1438
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Hypokalemia, Anemia OMIM:175500
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration OMIM:179800
Oculoskeletodental Syndrome
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Hypocalcemia... ORPHA:557003
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Stomato... OMIM:185000
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced propo... ORPHA:90362
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis, Elevated circulating hepcidin concen... OMIM:206200
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Extramedullary hematopoiesis, Anemia, EEG abnormality, Increased mean corpuscular volume, Siderob... OMIM:617021
Hypotonia-Cystinuria Syndrome
Macrotia, Facial palsy, Posteriorly rotated ears, Hypocalcemia OMIM:606407
Chronic Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impai... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impai... ORPHA:529799
Abnormal hemoglobin, Anemia, Microcytic anemia, Thrombocytopenia, Abnormality of iron homeostasis... ORPHA:848
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Kenny-Caffey Syndrome, Type 2
Anemia, Papilledema, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy OMIM:617519
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... OMIM:301083
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Optic disc pallor, Hyperb... OMIM:259720
Colchicine Poisoning
Abnormal blood ion concentration, Leukocytosis, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Hypercalcemia, Anemia ORPHA:436
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Posteriorly rotated ears, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Oculoskeletodental Syndrome
Hypocalcemia, Splenomegaly, Hypercalcemia, Hearing impairment OMIM:618440
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Neuroleptic Malignant Syndrome
Leukocytosis, Hyperuricemia, Hyperphosphatemia, Abnormal autonomic nervous system physiology, Ele... ORPHA:94093
Gracile Bone Dysplasia
Hypoplastic spleen, Hypocalcemia, Asplenia OMIM:602361
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Thrombocytopenia, Increased circulatin... ORPHA:3240
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ion concentration, Autoimmun... ORPHA:37042
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia OMIM:613839
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Timothy Syndrome
Hypocalcemia OMIM:601005
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... OMIM:601596
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94089
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Bilateral sensorineural hearing impairment, Atresia of the e... ORPHA:2306
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hearing impairment, Increased mean corpuscular volume, Hyperhomocystinemia, Pa... ORPHA:2169
Congenital Disorder Of Glycosylation, Type Ig
Sensorineural hearing impairment, Hypocalcemia, Abnormal pinna morphology OMIM:607143
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hyperphosphatemia, Hypocalcemia, External ear malformation ORPHA:2323
Diarrhea 10, Protein-Losing Enteropathy Type
Low-set ears, Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Thromb... ORPHA:36234
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Low-set ears, Hypocalcemia, Splenomegaly OMIM:235255
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Splenomegaly, Hypocalcemia, Optic atrophy, Hyponatremia, Calcinosis OMIM:617913
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Methylmalonic acidemia, Increased mean corpuscular volume, Hyperhomocystine... OMIM:277410
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Osteopetrosis With Renal Tubular Acidosis
Elliptocytosis, Leukopenia, Conductive hearing impairment, Anemia, Elevated circulating creatine ... ORPHA:2785
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Increased ci... ORPHA:26793
Pearson Syndrome
Hypoplastic spleen, Reticulocytosis, Hypophosphatemia, Anemia, Hyperalaninemia, Hypokalemia, Hear... ORPHA:699
Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypokalemia ORPHA:173
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypoproteinemia, Low-set ears, Hypocalcemia, Splenomegaly ORPHA:1655
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Hypocalcemia OMIM:618476
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Anemia, Splenomegaly, Calcinosis OMIM:239200
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Anemia, EEG abnormality, Aganglionic megacolon, Hypocalcemia, ... ORPHA:175
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Non-Functioning Paraganglioma
Pulsatile tinnitus, Cranial nerve compression, Conductive hearing impairment, Hypercalcemia ORPHA:94080
Double Outlet Right Ventricle
Hypocalcemia, Abnormality of cartilage of external ear ORPHA:3426
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Low-set ears, Hypercalcemia OMIM:614732
Autosomal Dominant Hypocalcemia
Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Posteriorly rotated ears, Hyperbilirubinemia, Thrombocytopenia, Hypocalcemia, Microtia ORPHA:163979
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231222
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic tetany, Ele... ORPHA:411634
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal cochlea morphology, Prelingual sensorineural hearin... ORPHA:52368
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:79444
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Anemia, Hearing impairment, Optic nerve compression, Hypocalcemia, Splenomegaly ORPHA:667
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Sensorineural hearing impairment, Hypocal... ORPHA:79443
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Normocytic anemia, Macrocytic anemia, Eosinophilia, Hyperkalemia, Orthostatic hypo... ORPHA:199299
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hemolytic anemia, Hyperkalemia, Thrombocytopenia, Hypocalcemia, Hyponatremia ORPHA:544482
Diamond-Blackfan Anemia 7
Atresia of the external auditory canal, Macrocytic anemia, Hearing impairment, Increased mean cor... OMIM:612562
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Papilledema, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany ORPHA:93325
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Hearing impairment, Increased ... OMIM:617052
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Ethylene Glycol Poisoning
Facial palsy, Hypocalcemia, Hyperkalemia ORPHA:31826
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Gitelman Syndrome
Tinnitus, Hypermagnesemia, Hypokalemia, Hypocalcemia, Iron deficiency anemia, Hypomagnesemia ORPHA:358
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Hennekam Syndrome
Low-set ears, Conductive hearing impairment, External ear malformation, Lymphopenia, Hypocalcemia... ORPHA:2136
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Leukopenia, Anemia, Leukemia, Chronic neutropenia, Neutropeni... ORPHA:811
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Microcytic... ORPHA:98791
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Progressive sensorineural hearing impairment, Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hypoalbuminemia OMIM:613658
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia, Thrombocytop... ORPHA:466650
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231226
Diamond-Blackfan Anemia
Low-set ears, Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticu... ORPHA:124
Craniofacioskeletal Syndrome
Posteriorly rotated ears, Hypocalcemia, Microtia OMIM:300712
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Beta-Thalassemia Major
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular... ORPHA:231214
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Low-set ears, Conductive hearing impairment, Aganglionic megacolon, Hea... ORPHA:567
Chronic leukemia, Acute leukemia, Mastocytosis, Splenomegaly, Hypercalcemia ORPHA:98292
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Anemia, Increased blood urea nitrogen, Hearing impairment, A... ORPHA:90321
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, H... ORPHA:83471
Acute Adrenal Insufficiency
Increased circulating renin level, Hyperuricemia, Normocytic anemia, Hyperkalemia, Orthostatic hy... ORPHA:95409
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
16Q24.3 Microdeletion Syndrome
Protruding ear, Optic nerve hypoplasia, Hearing impairment, Increased mean corpuscular volume, Th... ORPHA:261250
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Low-set ears, HbH hemoglobin, Optic disc pallor, Sensorineural hearing impairment, Elevated amnio... ORPHA:423479
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Leukopenia, Anemia, Elevated circulating alpha-fetoprotein conce... OMIM:619991
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Aplastic anemia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytop... OMIM:127550
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Overfolded helix, Low-set ears, Persistence of hemoglobin F, Cupped ear OMIM:617101
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Hearing impairment OMIM:156400
Multiple Myeloma
Anemia, Hyperproteinemia, Splenomegaly, Hypercalcemia, Elevated circulating creatinine concentration ORPHA:29073
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment, Hypercalcemia OMIM:602080
Hepatocellular Carcinoma
Polycythemia, Anemia, Hypokalemia, Hyperbilirubinemia, Thrombocytopenia, Thrombocytosis, Hyponatr... ORPHA:88673
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Cranial nerve compression, Conductive hearing impairment, Hypercalcemia ORPHA:276621
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Addison Disease
Increased circulating renin level, Hyperuricemia, Normocytic anemia, Hyperkalemia, Thiamine-respo... ORPHA:85138
Cranioectodermal Dysplasia 1
Low-set ears, Hypocalcemia, Protruding ear OMIM:218330
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Hepatosplenomegaly, Absent brainstem auditory responses, Thrombocytopenia, Sensorineural hearing ... ORPHA:79330
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Abnormal auditory ev... ORPHA:99027
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... ORPHA:206436
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:101085
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hepatosplenomegaly, Hypoplasia of the semicircular canal, Short-segment aganglionic megacolon, Ab... OMIM:609136
Monosomy 13Q34
Posteriorly rotated ears, Abnormal earlobe morphology, Hypercalcemia ORPHA:96168
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, EEG with spike-wave complexes, EEG with generalized sharp slow waves, Hearing impai... ORPHA:369837
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Low-set ears, Hemolytic anemia, EEG abnormality, Hypocalcemia, Macrotia, Cong... OMIM:619503
Osteopetrosis, Autosomal Recessive 7
Anemia, Hypocalcemic seizures, Optic nerve compression, Optic atrophy, Splenomegaly OMIM:612301
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Digeorge Syndrome
Hypoplasia of the thymus, Low-set ears, Anemia, Thrombocytopenia, Hypocalcemia, Splenomegaly OMIM:188400
Lead Poisoning
Increased LDL cholesterol concentration, Anemia, Decreased HDL cholesterol concentration, Imbalan... ORPHA:330015
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Hypercalcemia ORPHA:405
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Hypocalcemia ORPHA:280651
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Cranial nerve compression, Conductive hearing impairment, Hypercalcemia ORPHA:29072
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia, Hearing impairment OMIM:277440
Shwachman-Diamond Syndrome 1
Anemia, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Pancytopenia, Acute myeloid l... OMIM:260400
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia, Aganglionic megacolon, Sensorineural hearing impairment, Optic atrophy ORPHA:847
Trisomy 10P
Low-set ears, Low voltage EEG, EEG with focal spikes, Posteriorly rotated ears, Abnormal auditory... ORPHA:171929
Charge Syndrome
Low-set ears, Lop ear, Mixed hearing impairment, Lymphopenia, Facial palsy, Cupped ear, Hypocalce... OMIM:214800
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Sensorineural hearing impairment, Hypocalcemic tetany, Hypophosphatemic r... ORPHA:289176
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Hearing impairment ORPHA:249
Normochromic anemia, Hypokalemia, Hypercalcemia ORPHA:97282
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, HbH hemoglobin, Posteriorly rotated ears, Reduced alpha/beta synthesis ratio, Senso... OMIM:301040
Hypercalcemia, Normochromic anemia, Acanthocytosis ORPHA:97280
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic di... ORPHA:909
Bartter Syndrome, Type 1, Antenatal
Hypochloremia, Hyperchloriduria, Increased circulating renin level, Hypokalemia, Increased serum ... OMIM:601678
Hypochromic microcytic anemia, Hypercalcemia ORPHA:97283
Cockayne Syndrome B
Abnormal pinna morphology, Decreased nerve conduction velocity, Abnormal auditory evoked potentia... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Decreased nerve conduction velocity, Abnormal auditory evoked potentia... OMIM:216400
Hypercalcemia OMIM:171300
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elevated 8-dehydroc... ORPHA:401973
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Sensorineural hearing impairment, Increased VLDL cho... OMIM:243800
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Hypercalcemia, Leukopenia, Hemolytic anemia, Anemia, Eosinophilia, Facial palsy, Thrombocytopenia... ORPHA:797
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Multiple Endocrine Neoplasia Type 2
Ganglioneuromatosis, Aganglionic megacolon, Hypercalcemia ORPHA:653
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Hypercalcemia ORPHA:97278
Eisenmenger Syndrome
Hyperuricemia, Abnormal B-type natriuretic peptide concentration, Increased mean corpuscular volu... ORPHA:97214
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Hypercalcemia ORPHA:97261
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Multiple Endocrine Neoplasia Type 1
Cranial nerve compression, Hypercalcemia ORPHA:652
Williams Syndrome
Abnormal circulating lipid concentration, Low-set, posteriorly rotated ears, Protruding ear, Elev... ORPHA:904
Sotos Syndrome
Conductive hearing impairment, Acute lymphoblastic leukemia, Aganglionic megacolon, Hearing impai... ORPHA:821
Williams-Beuren Syndrome
Large earlobe, Sensorineural hearing impairment, Hypercalcemia OMIM:194050


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 Necap2

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 Necap2.

No publications found that use IMPC mice or data for Necap2.

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MGI Allele Allele Type Produced
Necap2em1(IMPC)J Exon Deletion Mice
Necap2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Necap2tm46598(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Necap2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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