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Gene: Trank1 MGI:1341834

Gene Summary

Name:

tetratricopeptide repeat and ankyrin repeat containing 1

Synonyms:

Lba1, A230061D21Rik, C030048J01Rik, LOC235639

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
decreased hemoglobin content	Trank1^em1(IMPC)J	HOM	Early adult	8.48×10^-11
decreased erythrocyte cell number	Trank1^em1(IMPC)J	HOM	Early adult	1.06×10^-11
decreased circulating creatinine level	Trank1^em1(IMPC)J	HOM	Early adult	1.89×10^-06
abnormal vocalization	Trank1^em1(IMPC)J	HOM	Early adult	2.41×10^-10
decreased hematocrit	Trank1^em1(IMPC)J	HOM	Early adult	7.80×10^-13
abnormal coat/hair pigmentation	Trank1^em1(IMPC)J	HOM	Early adult	6.47×10^-12

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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.

Eye Morphology

Images Ophthalmoscopy

10 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Trank1 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.

Human diseases associated with Trank1 (0 diseases)
Human diseases predicted to be associated with Trank1 (231 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Trank1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	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
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre...	OMIM:603902
Griscelli Syndrome, Type 1	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White...	OMIM:214450
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Congenital Amegakaryocytic Thrombocytopenia	Melanocytic nevus, Abnormal hemoglobin, Anemia, Thrombocytopenia	ORPHA:3319
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Loose Anagen Hair Syndrome	Loose anagen hair, Fair hair, Sparse hair	OMIM:600628
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Splenomegaly	ORPHA:46532
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Neutropenia	ORPHA:90023
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit	OMIM:609820
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:300448
Griscelli Syndrome, Type 2	Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat...	OMIM:607624
Erythrocytosis, Familial, 6	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617980
Erythrocytosis, Familial, 5	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617907
Tietz Syndrome	Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen...	ORPHA:42665
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Erythrocytosis, Familial, 4	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:611783
Cyanosis, Transient Neonatal	Methemoglobinemia, Reticulocytosis, Anemia	OMIM:613977
Erythrocytosis, Familial, 7	Polycythemia, Increased hematocrit	OMIM:617981
Hidrotic Ectodermal Dysplasia	Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa...	ORPHA:189
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Uncombable Hair Syndrome	Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair	ORPHA:1410
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine	ORPHA:54057
Adenosine Triphosphate, Elevated, Of Erythrocytes	Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:102900
Alpha-Thalassemia	Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism	ORPHA:846
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l...	OMIM:619947
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Woolly Hair	Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai...	ORPHA:170
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair	OMIM:606952
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612926
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Dilution, Pigmentary	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	OMIM:126070
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612922
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,...	ORPHA:766
Waardenburg Syndrome, Type 2B	White forelock, Premature graying of hair, Heterochromia iridis	OMIM:600193
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen...	OMIM:613673
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612925
Erythrocytosis, Familial, 1	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly	OMIM:133100
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Hypotrichosis 8	Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S...	OMIM:278150
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem...	ORPHA:3202
Beta-Thalassemia	Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th...	ORPHA:848
Griscelli Syndrome Type 2	Hyperlipidemia, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Pancytopenia, Partial a...	ORPHA:79477
Ermine Phenotype	Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair	OMIM:227010
Waardenburg Syndrome, Type 4B	Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray...	OMIM:613265
Waardenburg Syndrome, Type 2A	Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry...	OMIM:193510
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Iron-Refractory Iron Deficiency Anemia	Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis	OMIM:206200
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypopigmentation of hair	ORPHA:1355
Hermansky-Pudlak Syndrome 3	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Abnormal number of dense granules	OMIM:614072
Tubulointerstitial Nephritis With Uveitis	Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration	OMIM:607665
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co...	OMIM:235400
Albinism, Oculocutaneous, Type Ii	Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area...	OMIM:203200
Oculocutaneous Albinism, Type Viii	Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect	OMIM:619165
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi...	ORPHA:895
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic...	OMIM:274150
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Relapsing Fever	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In...	ORPHA:91547
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair	ORPHA:2786
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ...	ORPHA:33445
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia	OMIM:618849
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a...	OMIM:615550
Abcd Syndrome	Polycythemia, Albinism, White eyelashes, White eyebrow	OMIM:600501
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel...	ORPHA:2885
Elejalde Neuroectodermal Melanolysosomal Syndrome	Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos...	OMIM:256710
Oculocutaneous Albinism Type 3	Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,...	ORPHA:79433
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit	OMIM:263400
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypocystinemia	OMIM:617744
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White...	ORPHA:897
Methionine Malabsorption Syndrome	Positive ferric chloride test, Blue irides, White hair, Aminoaciduria	OMIM:250900
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia	OMIM:222800
Griscelli Syndrome	Abnormal eyebrow morphology, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, ...	ORPHA:381
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Hypoalbuminemia	OMIM:608104
Waardenburg Syndrome, Type 4A	Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray...	OMIM:277580
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased circulating renin level, Decreased serum creatinine, Hyponatremia	OMIM:300539
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Abnormal leukocyte morphology, Anemia, Generalized hyperpigmentation, Nail dys...	ORPHA:3322
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Leukocytosis	ORPHA:90060
Tempi Syndrome	Polycythemia, Increased hematocrit	ORPHA:284227
Congenital Disorder Of Glycosylation, Type Iit	Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron de...	OMIM:618885
Waardenburg Syndrome Type 1	Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia...	ORPHA:894
Hereditary Methemoglobinemia	Methemoglobinemia, Abnormality of the nail	ORPHA:621
Piebaldism	Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal...	ORPHA:2884
Chediak-Higashi Syndrome	Ocular albinism, Hemophagocytosis, Splenomegaly, Hypopigmentation of the skin, Abnormal dense gra...	OMIM:214500
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat...	ORPHA:79435
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Hyperbilirubinemia	OMIM:609734
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Oculocutaneous Albinism	Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ...	ORPHA:55
Vogt-Koyanagi-Harada Disease	Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ...	ORPHA:3437
Senior-Loken Syndrome 1	Anemia, Elevated circulating creatinine concentration	OMIM:266900
Ataxia-Telangiectasia	Multiple cafe-au-lait spots, Hypopigmentation of hair, Lymphopenia, Premature graying of hair	ORPHA:100
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Beta-Thalassemia Intermedia	Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E...	ORPHA:231222
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:177910
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju...	ORPHA:90038
Pericardial Effusion, Chronic	Polycythemia	OMIM:260900
Acute Interstitial Pneumonia	Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv...	ORPHA:79126
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Aplasia/Hypoplasia of the eyebrow, Microcytic anemia, HbH hemoglobin	ORPHA:98791
Renal Tubular Acidosis, Distal, 1	Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia	OMIM:179800
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Oculocutaneous Albinism Type 2	Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk...	ORPHA:79432
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Hermansky-Pudlak Syndrome 11	Ocular albinism, Fair hair, Reduced platelet dense granules, Albinism, Iris transillumination def...	OMIM:619172
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Aminoaciduria	OMIM:615605
Piebald Trait	Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi...	OMIM:172800
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers...	ORPHA:231226
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ...	ORPHA:231214
Oculocutaneous Albinism Type 1	Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,...	ORPHA:352731
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair	ORPHA:2221
Dyskeratosis Congenita, Autosomal Dominant 2	Nail dysplasia, Neutropenia, Leukopenia, Aplastic anemia, Thrombocytopenia, Nail dystrophy, Pancy...	OMIM:613989
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Anemia, Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Squalene Synthase Deficiency	Abnormality of hair pigmentation, Increased circulating farnesol concentration, Hypocholesterolem...	OMIM:618156
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:411515
Dopamine Beta-Hydroxylase Deficiency	Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris...	ORPHA:79434
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas...	ORPHA:167
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71526
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela...	OMIM:601375
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Splenomegaly	OMIM:618541
Gaisböck Syndrome	Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Increased mean corpuscular he...	ORPHA:90041
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein AI concentration, Hepatosplenomegaly, Decreased HDL choleste...	ORPHA:85450
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration, Normocytic anemia, Normochromic anemia	ORPHA:247691
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Supernumerary nipple	OMIM:614376
Multiple Myeloma	Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Anemia	ORPHA:29073
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Bacterial Toxic-Shock Syndrome	Increased circulating myelocyte count, Hypocalcemia, Elevated circulating creatine kinase concent...	ORPHA:36234
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hypoplastic toenails, Elevated circulating long chain fatty acid concentration, Hyperammonemia, E...	OMIM:608836
Ermine Phenotype	Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy...	ORPHA:999
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry...	ORPHA:3440
Classic Phenylketonuria	Hypopigmentation of the skin, Hypopigmentation of hair, Hyperphenylalaninemia	ORPHA:79254
Oculocutaneous Albinism Type 1A	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A...	ORPHA:79431
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Supernumerary nipple, Hypochromic microcytic ...	OMIM:141750
Albinism, Oculocutaneous, Type Ia	Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White...	OMIM:203100
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Syndromic Diarrhea	Woolly hair, Lymphopenia, Brittle hair, Generalized hypopigmentation, Splenomegaly, Hypoplasia of...	ORPHA:84064
Blackfan-Diamond Anemia	Increased mean corpuscular volume, Low anterior hairline, Neutropenia, Persistence of hemoglobin ...	ORPHA:124
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l...	OMIM:260400
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia	OMIM:613095
Hermansky-Pudlak Syndrome 1	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ...	OMIM:203300
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Fine hair, White hair	ORPHA:935
Carney Complex, Type 1	Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair	OMIM:160980
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Lead Poisoning	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Imbalanced hemo...	ORPHA:330015
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip...	ORPHA:3214
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Thymoma	Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia	ORPHA:99867
Marburg Hemorrhagic Fever	Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen...	ORPHA:99826
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:98795
Waardenburg Syndrome, Type 4C	Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray...	OMIM:613266
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Anemia, Hypopigmentation of hair, Ocular albinism	ORPHA:2719
Hemorrhagic Fever-Renal Syndrome	Leukocytosis, Elevated circulating creatinine concentration, Hyperphosphatemia, Anemia, Thrombocy...	ORPHA:340
Juvenile Nephropathic Cystinosis	Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Hypocalcemic tetany, Elevated circula...	ORPHA:411634
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Hermansky-Pudlak Syndrome	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h...	ORPHA:79430
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Trichorrh...	ORPHA:238468
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:411511
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Vici Syndrome	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Albinism, Decreased prop...	OMIM:242840
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:301040
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:98794
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Splenomegaly, Hypopigmentation of hair, Heterochromia iridis, Premat...	ORPHA:163746
Degcags Syndrome	Abnormal eyebrow morphology, Hypertrichosis, Low anterior hairline, Hyperbilirubinemia, Congenita...	OMIM:619488
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Tubulointerstitial Nephritis And Uveitis Syndrome	Abnormality of retinal pigmentation, Elevated circulating C-reactive protein concentration, Amino...	ORPHA:91500
Yellow Fever	Neutrophilia, Leukocytosis, Hyperbilirubinemia, Elevated circulating creatine kinase concentratio...	ORPHA:99829
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Cystinosis, Nephropathic	Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Aminoaciduria, Splenomeg...	OMIM:219800
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture	ORPHA:96169
Duodenal Neuroendocrine Tumor	Increased hematocrit, Iron deficiency anemia	ORPHA:100076
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Igg4-Related Kidney Disease	Eosinophilia, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot...	ORPHA:449395
Prader-Willi Syndrome	Generalized hypopigmentation, Hypopigmentation of the skin, Frontal upsweep of hair, Hypopigmenta...	OMIM:176270
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398079
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Coarse hair, Dry hair, Widow's peak	ORPHA:1974
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:98754
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:98793
Prader-Willi Syndrome Due To Translocation	Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Hyp...	ORPHA:177907
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:177901
Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:398073
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:739
Acrodysostosis With Multiple Hormone Resistance	Hypocalcemia, Fair hair, Blue irides, Hyperphosphatemia, Red hair	ORPHA:280651
Menkes Disease	Hypopigmentation of hair, Woolly hair, Sparse hair	ORPHA:565
Biliary, Renal, Neurologic, And Skeletal Syndrome	Increased circulating ferritin concentration, Hyperbilirubinemia, Splenomegaly, Conjugated hyperb...	OMIM:619534
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Abnormal eyelash morphology, Elevated 7-dehydrocholesterol	ORPHA:818

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 Trank1

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 Trank1.

No publications found that use IMPC mice or data for Trank1.

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MGI Allele	Allele Type	Produced
Trank1^em1(IMPC)J	Exon Deletion	Mice
Trank1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Trank1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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