Gene Summary

Name:
tetratricopeptide repeat and ankyrin repeat containing 1
Synonyms:
Lba1,  A230061D21Rik,  C030048J01Rik,  LOC235639

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased hemoglobin content Trank1em1(IMPC)J HOM   Early adult 8.48×10-11
decreased erythrocyte cell number Trank1em1(IMPC)J HOM   Early adult 1.06×10-11
decreased circulating creatinine level Trank1em1(IMPC)J HOM   Early adult 1.89×10-06
abnormal vocalization Trank1em1(IMPC)J HOM Early adult 2.41×10-10
decreased hematocrit Trank1em1(IMPC)J HOM   Early adult 7.80×10-13
abnormal coat/hair pigmentation Trank1em1(IMPC)J HOM Early adult 6.47×10-12

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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

Auditory Brain Stem Response

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

8 Images

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.

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 Similarity of
phenotypes
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
Trank1em1(IMPC)J Exon Deletion Mice
Trank1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Trank1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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