Gene Summary

tetratricopeptide repeat domain 39A

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
increased circulating phosphate level Ttc39atm1b(KOMP)Mbp HOM Early adult 2.04×10-06
increased heart weight Ttc39atm1b(KOMP)Mbp HOM Early adult 5.16×10-05
decreased mean corpuscular hemoglobin concentration Ttc39atm1b(KOMP)Mbp HOM   Early adult 5.10×10-05
increased circulating calcium level Ttc39atm1b(KOMP)Mbp HOM Early adult 1.43×10-05

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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 Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


Panel A FCS file(s)

6 Images


Panel B FCS file(s)

6 Images

Human diseases caused by Ttc39a 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 Ttc39a by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia DECIPHER:16
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Hepatomegaly, Thrombocytopenia ORPHA:2123
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin ORPHA:3319
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Cardiomegaly OMIM:227150
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Methemoglobinemia, Anemia OMIM:613977
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:36913
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Splenomegaly, Hypocalcemia ORPHA:100025
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Rhabdoid Tumor
Hypercalcemia, Anemia, Thrombocytopenia ORPHA:69077
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hypercalcemia, Anemia ORPHA:436
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Hypocalcemia ORPHA:172
Hyperphosphatemia ORPHA:280062
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hepatomegaly, Calcinosis, Hypophosphatemia, Anemia, Splenomegaly OMIM:239200
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly, Hypocalcemia OMIM:619658
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Hypoc... OMIM:612526
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Anemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Abnormal hemoglobin, ... ORPHA:848
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, H... ORPHA:398063
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Hypercalcemia, Infantile, 1
Aortic valve stenosis, Infantile hypercalcemia, Pulmonic stenosis OMIM:143880
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Thrombocytosis, Hypernatremia, Elevated circulating cre... ORPHA:94093
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale OMIM:601005
Hypophosphatasia, Infantile
Hypercalcemia, Anemia, Elevated plasma pyrophosphate OMIM:241500
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Oculocerebrodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia, Elevated creatine kin... ORPHA:423
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Episodic hemolytic anemia, Enlarged kidney ORPHA:251004
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hypercalcemia, Hepatomegaly, Acute leukemia, Chronic leukemia, Splenomegaly, Mastocytosis ORPHA:98292
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Oculoskeletodental Syndrome
Hypercalcemia, Splenomegaly, Hepatomegaly, Hypocalcemia OMIM:618440
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia ORPHA:428
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia ORPHA:79444
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Colchicine Poisoning
Myocarditis, Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalce... ORPHA:31824
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Hyperbilirubinemia, Decreased osteoclast count, Splenomegaly, Extramedullar... OMIM:259720
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Macrocytic anemia, Normocytic anemia, Hyperuricemia, Eosinophilia ORPHA:199299
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Anemia, Splenomegaly ORPHA:29073
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia ORPHA:79443
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hepatomegaly, Thrombocytosis, Hypokalemia, Polycythemia, Anemia, Hyp... ORPHA:88673
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly, Anemia OMIM:618838
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... OMIM:612561
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Hyperuricemia, Increased circulatin... ORPHA:95409
Albers-Sch├Ânberg Osteopetrosis
Anemia, Abnormal leukocyte morphology, Hypocalcemia ORPHA:53
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Pericardial effusion, Anemia, Hypomagnesemia, Reduced proportio... ORPHA:90362
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Anemia, Hypocalcemia OMIM:244460
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Hypocalcemia, Thrombocytopenia,... ORPHA:466650
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Anemia, Hypokalemia, Hypocalcemia OMIM:175500
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Anemia, Splenomegaly, Hypocalcemia, Pancytopenia, Thrombocytopenia OMIM:259700
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopen... ORPHA:340
Monosomy 13Q34
Infantile hypercalcemia, Pulmonic stenosis, Common atrium ORPHA:96168
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Hypercalcemia ORPHA:476126
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Beta-Thalassemia Intermedia
Hepatomegaly, Abnormality of iron homeostasis, Leukocytosis, Elevated hepatic iron concentration,... ORPHA:231222
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Abnormal heart morphology, Restrictive cardiomyopathy, Atrial septal defect, Hyper... ORPHA:369837
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Neutropenia, Hypocalcemia ORPHA:47
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Thiamine-responsive megaloblastic a... ORPHA:85138
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Pulmonic stenosis, ... ORPHA:3426
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hypercalcemia, Normochromic anemia, Hepatomegaly, Hypokalemia ORPHA:97282
Hypercalcemia OMIM:171300
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse, Hypocalcemia ORPHA:1563
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Hypocalcemia ORPHA:280651
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Pericardial effusion, Hypomagnesemia, Hypertriglyceridemia, Hypoca... OMIM:618183
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Pericardial eff... ORPHA:26793
Acanthocytosis, Hypercalcemia, Normochromic anemia, Hepatomegaly ORPHA:97280
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99880
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Hypercalcemia, Hepatomegaly, Hypochromic microcytic anemia ORPHA:97283
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:143
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Anemi... ORPHA:85451
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Hypophosphatemia, Hypokalemia ORPHA:213
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Anisopoikilocytosis, Hypoc... ORPHA:231214
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Hereditary Fructose Intolerance
Hypermagnesemia, Hepatomegaly, Hypophosphatemia, Hyperuricemia ORPHA:469
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Splenomeg... ORPHA:231226
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Hypercalcemia, Hepatomegaly ORPHA:97278
Pearson Syndrome
Hepatomegaly, Neutropenia, Hypokalemia, Abnormal heart morphology, Hypophosphatemia, Cardiomyopat... ORPHA:699
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Pseudo-Torch Syndrome 3
Leukocytosis, Anemia, Cardiomegaly, Increased circulating ferritin concentration, Congenital thro... OMIM:618886
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Hypocalcemia OMIM:607143
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia, Hypocalcemia OMIM:602361
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Fanconi-Bickel Syndrome
Hepatomegaly, Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Splenomegaly, Hypocalcemia OMIM:235255
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir... ORPHA:37042
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hypocalcemic tetany, Pericardial effusion, Hypomagnesemia, Hypocalcemia ORPHA:73224
Hypercalcemia, Hepatomegaly ORPHA:97261
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Mitochondrial Trifunctional Protein Deficiency
Left ventricular hypertrophy, Cardiomyopathy, Hypocalcemia ORPHA:746
Bacterial Toxic-Shock Syndrome
Myocarditis, Hypoalbuminemia, Increased circulating myelocyte count, Elevated circulating creatin... ORPHA:36234
Hypophosphatemic Rickets
Hypercalcemia, Hypophosphatemia ORPHA:437
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypoc... ORPHA:1655
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Hypophosphatemia, Anemia, Splenomegaly, Hypocalcemia, Abnormal pulmonary valve morp... ORPHA:667
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Anisocytosis, Chronic hemolytic anemia, Poikilocytosis, Reticulocytos... OMIM:618278
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Macrocytic anemia, Hypocalcemia OMIM:212750
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Alport Syndrome 3, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Hypophosphatemia OMIM:258480
Hypercalcemia, Hepatomegaly, Leukopenia, Increased T cell count, Anemia, Thrombocytopenia, Eosino... ORPHA:797
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypokalemia, Hypophosphatemia, Hyperuricosuria, Decreased plasma carnitine, Bicarbo... ORPHA:3337
Williams Syndrome
Hypertrophic cardiomyopathy, Hypercalcemia, Bicuspid aortic valve, Ventricular septal defect, Abn... ORPHA:904
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Dent Disease 1
Hypophosphatemia OMIM:300009
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Anemia, Hyperbilirubinemia, Atrial septal defect, Hypocalcemia, Thromb... ORPHA:163979
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Anemia, Hypocalcemi... ORPHA:2785
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Fructose Intolerance, Hereditary
Hepatomegaly, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Bicarbonaturia OMIM:229600
Sickle Cell Anemia
Hepatomegaly, Leukocytosis, Cardiomegaly, Splenomegaly, Increased red cell sickling tendency, Hem... OMIM:603903
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Visceral Steatosis, Congenital
Myocardial steatosis, Hypocalcemia OMIM:228100
Mccune-Albright Syndrome
Pancytopenia, Hypophosphatemia ORPHA:562
Cartilage-Hair Hypoplasia
Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Abnormal cardiac septum morphology, Hypocalcemia ORPHA:175
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Myocarditis, Leukocytosis, Hypocalcemia, Thrombocytopenia, Hemolytic ... ORPHA:544482
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... ORPHA:79102
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Anemia, Persistence of hemoglobin F, Myocardial necrosis, Acute myeloi... OMIM:260400
Raine Syndrome
Hypophosphatemia OMIM:259775
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Blackfan-Diamond Anemia
Thrombocytosis, Ventricular septal defect, Elevated red cell adenosine deaminase level, Neutropen... ORPHA:124
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Hypercalcemia, Bicuspid aortic valve, Ventricular septal de... OMIM:194050
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Velocardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hypocalcemia OMIM:192430
Craniofacioskeletal Syndrome
Ventricular septal defect, Atrial septal defect, Hypocalcemia OMIM:300712
Gitelman Syndrome
Pericardial effusion, Hypokalemia, Iron deficiency anemia, Hypomagnesemia, Hypocalcemia, Hypermag... ORPHA:358
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Anemia, Hypercholesterolemia, Thrombocytopenia, Hypo... ORPHA:534
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Ventricular septal defect, Hypochromic microcytic anemia, Per... OMIM:301040
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Sotos Syndrome
Hypercalcemia, Ventricular septal defect, Acute lymphoblastic leukemia, Abnormal heart morphology... ORPHA:821
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Hennekam Syndrome
Lymphopenia, Splenomegaly, Pericardial effusion, Hypocalcemia ORPHA:2136
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... ORPHA:330015
Dent Disease
Elevated circulating creatine kinase concentration, Renal hypophosphatemia, Hyperuricosuria ORPHA:1652
22Q11.2 Deletion Syndrome
Ventricular septal defect, Tricuspid atresia, Truncus arteriosus, Abnormal aortic valve morpholog... ORPHA:567
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Asplenia, Mitral atresia, Double outlet right ventricle,... OMIM:306955
Thymic Aplasia
Decreased proportion of naive T cells, Hypocalcemic tetany, Coombs-positive hemolytic anemia, Apl... ORPHA:83471
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Anemia, Hypocalcemia, Pancytopenia OMIM:613658
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Hepatomegaly, Hypocalcemia OMIM:218330
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Digeorge Syndrome
Tetralogy of Fallot, Ventricular septal defect, Truncus arteriosus, Hypocalcemia OMIM:188400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Subvalvular aortic sten... OMIM:619503
Charge Syndrome
Ventricular septal defect, Dysplastic tricuspid valve, Double outlet right ventricle, Pulmonic st... OMIM:214800
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Situs inversus totalis, Increased VLDL cholest... OMIM:243800


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 Ttc39a

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 Ttc39a.

No publications found that use IMPC mice or data for Ttc39a.

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MGI Allele Allele Type Produced
Ttc39atm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Ttc39atm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ttc39atm1b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice

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