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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 hematocrit	Trank1^em1(IMPC)J	HOM	Early adult	0.00
decreased circulating creatinine level	Trank1^em1(IMPC)J	HOM	Early adult	0.00
decreased hemoglobin content	Trank1^em1(IMPC)J	HOM	Early adult	0.00
abnormal vocalization	Trank1^em1(IMPC)J	HOM	Early adult	2.42×10^-10
abnormal coat/hair pigmentation	Trank1^em1(IMPC)J	HOM	Early adult	6.50×10^-12

Download data as: TSV XLS

Select physiological systems to view:

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

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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 (233 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	Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co...	ORPHA:90039
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Griscelli Syndrome, Type 3	White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair	OMIM:609227
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu...	OMIM:214450
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type	Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo...	OMIM:603902
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly	OMIM:613978
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Albinism, Oculocutaneous, Type Iii	Partial albinism, Red hair, Albinism	OMIM:203290
Hemoglobin E Disease	Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom...	ORPHA:2133
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Thrombocytopenia, Melanocytic nevus, Anemia	ORPHA:3319
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia	ORPHA:231393
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Tietz Syndrome	White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen...	ORPHA:42665
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Neutropenia	ORPHA:90023
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in ha...	OMIM:607624
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:300448
Uncombable Hair Syndrome	Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia	ORPHA:1410
Hidrotic Ectodermal Dysplasia	Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing...	ORPHA:189
Sickle Cell Anemia	Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Waardenburg Syndrome, Type 2F	Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp...	OMIM:619947
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Dilution, Pigmentary	Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation	OMIM:126070
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Woolly Hair	Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S...	ORPHA:170
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of the skin, Hypopigmentation of hair, Albinism	OMIM:606952
Waardenburg Syndrome, Type 2B	White forelock, Premature graying of hair, Heterochromia iridis	OMIM:600193
Erythrocytosis, Familial, 3	Increased hematocrit, Increased hemoglobin, Increased red blood cell mass	OMIM:609820
Erythrocytosis, Familial, 8	Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly	OMIM:222800
Erythrocytosis, Familial, 6	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617980
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an...	ORPHA:251380
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly	ORPHA:846
Albinism, Oculocutaneous, Type Iv	Blue irides, Hypopigmentation of hair, Albinism	OMIM:606574
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia, Anemia	OMIM:617056
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Hypotrichosis 8	Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair...	OMIM:278150
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy...	ORPHA:766
Ermine Phenotype	Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow	OMIM:227010
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A...	OMIM:613673
Alpha-Thalassemia-Myelodysplastic Syndrome	HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia	ORPHA:231401
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva...	OMIM:612924
Waardenburg Syndrome, Type 4B	Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro...	OMIM:613265
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva...	OMIM:612926
Polycythemia Vera	Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit...	OMIM:263300
Waardenburg Syndrome, Type 2A	Synophrys, Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Par...	OMIM:193510
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva...	OMIM:612925
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelash...	OMIM:300946
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:617872
Albinism, Oculocutaneous, Type Ii	Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat...	OMIM:203200
Oculocutaneous Albinism, Type Viii	Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect	OMIM:619165
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ...	ORPHA:895
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Hyperlipidemia, Hypopigmentat...	ORPHA:79477
Woolly Hair Nevus	Woolly scalp hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Curl...	ORPHA:79414
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Albinism	ORPHA:2786
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega...	OMIM:256710
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Oculocutaneous Albinism Type 3	Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas...	ORPHA:79433
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal ey...	ORPHA:2885
Hermansky-Pudlak Syndrome 3	Hypopigmentation of the skin, Hypopigmentation of hair, Albinism, Abnormal number of dense granules	OMIM:614072
Erythrocytosis, Familial, 1	Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass	OMIM:133100
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine	OMIM:617744
Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia, Thrombocytopenia, Abnormality of iron homeostasis...	ORPHA:848
Methionine Malabsorption Syndrome	Blue irides, Positive ferric chloride test, Aminoaciduria, White hair	OMIM:250900
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Elevated circulating creatinine concentration, Anemia	OMIM:620366
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Synophrys, Premature graying of hair, Abnormality of retinal pigment...	ORPHA:897
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n...	OMIM:300539
Preeclampsia	Thrombocytopenia, Elevated circulating creatinine concentration	ORPHA:275555
Griscelli Syndrome Type 1	Iris hypopigmentation, Premature graying of hair, White hair, Hyperlipidemia, Partial albinism	ORPHA:79476
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hyperlipidemia...	OMIM:235400
Relapsing Fever	Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati...	ORPHA:91547
Waardenburg Syndrome, Type 4A	Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro...	OMIM:277580
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Thrombocytopen...	OMIM:274150
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Bone Marrow Failure Syndrome 6	Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia	OMIM:618849
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Waardenburg Syndrome Type 1	Hypopigmented skin patches, Synophrys, Premature graying of hair, Abnormal hair morphology, Thick...	ORPHA:894
Piebaldism	Piebaldism, Synophrys, Hypopigmented skin patches, White eyelashes, Hypopigmentation of hair, Whi...	ORPHA:2884
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Albinism, White hair, Abnormality of retinal pigmentation, Hypopigmentatio...	ORPHA:79435
Griscelli Syndrome	Abnormal circulating lipid concentration, Iris hypopigmentation, Leukopenia, Abnormal eyelash mor...	ORPHA:381
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Thrombocytopenia, Elevated circulating creatinine concentration, Anemia	OMIM:608104
Vogt-Koyanagi-Harada Disease	Vitiligo, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal eyebrow morphology, P...	ORPHA:3437
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Congenital Disorder Of Glycosylation, Type Iit	Iron deficiency anemia, Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased s...	OMIM:618885
Hoyeraal-Hreidarsson Syndrome	Anemia, Premature graying of hair, Thrombocytopenia, Nail dystrophy, Abnormal leukocyte morpholog...	ORPHA:3322
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Oculocutaneous Albinism	Iris hypopigmentation, Generalized hypopigmentation, Generalized hypopigmentation of hair, White ...	ORPHA:55
Obesity And Hypopigmentation	Red hair	OMIM:620195
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:614817
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Erythrocytosis, Familial, 2	Increased hematocrit, Increased hemoglobin, Increased red blood cell mass	OMIM:263400
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:177910
Hereditary Methemoglobinemia	Abnormality of the nail, Methemoglobinemia	ORPHA:621
Piebald Trait	Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr...	OMIM:172800
Chediak-Higashi Syndrome	Giant neutrophil granules, Iris hypopigmentation, Leukopenia, Hemophagocytosis, Anemia, Giant mel...	OMIM:214500
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration	OMIM:179800
Oculocutaneous Albinism Type 2	Blue irides, Freckling, Iris hypopigmentation, Iris transillumination defect, White eyebrow, Whit...	ORPHA:79432
Ataxia-Telangiectasia	Multiple cafe-au-lait spots, Hypopigmentation of hair, Lymphopenia, Premature graying of hair	ORPHA:100
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Beta-Thalassemia Intermedia	Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume...	ORPHA:231222
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Acquired Hypertrichosis Lanuginosa	Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology	ORPHA:2221
Oculocutaneous Albinism Type 1	Blue irides, Iris hypopigmentation, Generalized hypopigmentation, Iris transillumination defect, ...	ORPHA:352731
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Anemia	OMIM:266900
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Oculocutaneous Albinism Type 1B	Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigmentation, Hypopigmentation...	ORPHA:79434
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Reduced hematocrit, Elevated circulating c...	ORPHA:79126
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Hypokalemia, Unconjugated hyper...	ORPHA:90038
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:411515
Squalene Synthase Deficiency	Decreased LDL cholesterol concentration, Hypocholesterolemia, Elevated circulating methylsuccinic...	OMIM:618156
Hermansky-Pudlak Syndrome 11	Reduced platelet dense granules, Albinism, Ocular albinism, Fair hair, Iris transillumination def...	OMIM:619172
Dominant Beta-Thalassemia	Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume...	ORPHA:231226
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
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Aplasia/Hypoplasia of the eyebrow, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Beta-Thalassemia Major	Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular...	ORPHA:231214
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair, Splenomegaly	OMIM:618541
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia, Anemia	OMIM:174000
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia	ORPHA:230
Bone Marrow Failure Syndrome 3	Hypomelanotic macule, Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Small na...	OMIM:617052
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration	OMIM:620138
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Supernumerary nipple, Elevated circulating creatinine concentration	OMIM:614376
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Hypopigmentation ...	ORPHA:999
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Hemophagocytosis, Large clumps of pigment irregularly distributed along h...	ORPHA:167
Gaisböck Syndrome	Increased red blood cell count, Increased circulating renin level, Increased mean corpuscular hem...	ORPHA:90041
Classic Phenylketonuria	Hypopigmentation of the skin, Hypopigmentation of hair, Hyperphenylalaninemia	ORPHA:79254
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Oculocutaneous Albinism Type 1A	Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin, Hypopigmentation of hai...	ORPHA:79431
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmented skin patches, Premature graying of hair, Synophrys, He...	ORPHA:3440
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hyperammonemia, Decreased plasma free carnitine, Elevated circulating long chain fatty acid conce...	OMIM:608836
Hereditary Amyloidosis With Primary Renal Involvement	Hepatosplenomegaly, Decreased circulating apolipoprotein A-I concentration, Anemia, Decreased HDL...	ORPHA:85450
Acrodysostosis 2 With Or Without Hormone Resistance	Blue irides, Red hair, Fair hair	OMIM:614613
Albinism, Oculocutaneous, Type Ia	Blue irides, Albinism, White hair, Hypopigmentation of hair, Ocular albinism, Absent skin pigment...	OMIM:203100
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alpha-fetoprotein concentration, Hypokalemia, Elevated circulating creatinin...	OMIM:613095
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normochromic anemia, Normocytic anemia, Elevated circulating creatinine concentration	ORPHA:247691
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Multiple Myeloma	Anemia, Hyperproteinemia, Splenomegaly, Hypercalcemia, Elevated circulating creatinine concentration	ORPHA:29073
Carney Complex, Type 1	Multiple lentigines, Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions	OMIM:160980
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Bacterial Toxic-Shock Syndrome	Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Thromb...	ORPHA:36234
Hermansky-Pudlak Syndrome 1	Freckling, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentatio...	OMIM:203300
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Hyperuricemia, Elevated circulating creatinine concentration	ORPHA:79233
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Freckling, Iris hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait spots, Hypopi...	ORPHA:3214
Muenke Syndrome	Hypermelanotic macule, Hypopigmentation of hair, Hypopigmented skin patches	ORPHA:53271
Syndromic Diarrhea	Hypoplasia of the thymus, Generalized hypopigmentation, Uncombable hair, Trichorrhexis nodosa, Br...	ORPHA:84064
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:542323
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia, Red hair	OMIM:609734
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein	ORPHA:423479
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Normocytic anemia, Increased blood urea ni...	ORPHA:49041
Waardenburg Syndrome, Type 4C	Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro...	OMIM:613266
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:154230
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:98795
Diamond-Blackfan Anemia	Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, L...	ORPHA:124
Lead Poisoning	Increased LDL cholesterol concentration, Anemia, Decreased HDL cholesterol concentration, Imbalan...	ORPHA:330015
Shwachman-Diamond Syndrome 1	Anemia, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Pancytopenia, Acute myeloid l...	OMIM:260400
Juvenile Nephropathic Cystinosis	Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Aminoaciduria, Hypocalce...	ORPHA:411634
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Irregular hyperpigmentation, Trichorrhexis nodosa, Abnormality of the nai...	ORPHA:238468
Thymoma	Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia	ORPHA:99867
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:411511
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:223900
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Reticulocytosis, Leukopenia, Hyperammonemia, Abnormal lymp...	ORPHA:99826
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Iris hypopigmentation, Ocular albinism, Anemia	ORPHA:2719
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Hemorrhagic Fever-Renal Syndrome	Leukocytosis, Anemia, Hyperphosphatemia, Hyperkalemia, Thrombocytopenia, Elevated circulating cre...	ORPHA:340
Hermansky-Pudlak Syndrome	Long eyelashes, Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Pa...	ORPHA:79430
Vici Syndrome	Leukopenia, Albinism, Lymphopenia, Elevated circulating creatine kinase concentration, T lymphocy...	OMIM:242840
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:98794
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Diamond-Blackfan Anemia 1	Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmented skin patches, Premature graying of hair, Hypopigmentat...	ORPHA:163746
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:301040
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture	ORPHA:96169
Cystinosis, Nephropathic	Hypophosphatemia, Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypokalemia, Reduc...	OMIM:219800
Degcags Syndrome	Hepatosplenomegaly, Long eyelashes, Leukopenia, Abnormal eyelash morphology, Abnormal spleen morp...	OMIM:619488
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Abnormality of retinal pigmentation, Normochromic anemia, Elevated circulating...	ORPHA:91500
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Pauci-Immune Glomerulonephritis	Granulomatosis, Elevated circulating creatinine concentration	ORPHA:93126
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Yellow Fever	Leukocytosis, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Thrombocyto...	ORPHA:99829
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Duodenal Neuroendocrine Tumor	Iron deficiency anemia, Increased hematocrit	ORPHA:100076
Prader-Willi Syndrome	Iris hypopigmentation, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentati...	OMIM:176270
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398079
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair	ORPHA:1974
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Hyp...	ORPHA:177907
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, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:98754
Renal Cysts And Diabetes Syndrome	Hyperuricemia, Elevated circulating creatinine concentration	OMIM:137920
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:177901
Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:398073
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:739
Obsolete: Acrodysostosis With Multiple Hormone Resistance	Blue irides, Hyperphosphatemia, Red hair, Hypocalcemia, Fair hair	ORPHA:280651
Igg4-Related Kidney Disease	Decreased retinol-binding protein level, Elevated circulating C-reactive protein concentration, E...	ORPHA:449395
Menkes Disease	Sparse hair, Hypopigmentation of hair, Woolly hair	ORPHA:565
Smith-Lemli-Opitz Syndrome	Elevated 7-dehydrocholesterol, Hypopigmentation of hair, Abnormal eyelash morphology	ORPHA:818
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia, Increased circu...	OMIM:619534

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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