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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 circulating creatinine level	Trank1^em1(IMPC)J	HOM	Early adult	1.89×10^-06
decreased erythrocyte cell number	Trank1^em1(IMPC)J	HOM	Early adult	1.06×10^-11
decreased hemoglobin content	Trank1^em1(IMPC)J	HOM	Early adult	8.48×10^-11
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
decreased hematocrit	Trank1^em1(IMPC)J	HOM	Early adult	7.80×10^-13

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

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 (1 diseases)
Human diseases predicted to be associated with Trank1 (234 diseases)

The table below shows human diseases associated to Trank1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Kleine-Levin Syndrome			ORPHA:33543

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, Abnormal hemoglobin, Anemia	ORPHA:231249
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	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	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia, Melanocytic nevus	ORPHA:3319
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Neutropenia	ORPHA:90023
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Griscelli Syndrome Type 2	Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipidemia, Premature...	ORPHA:79477
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelashes	OMIM:300946
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism	OMIM:614072
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ...	OMIM:274150
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Abcd Syndrome	White eyelashes, Polycythemia, White eyebrow, Albinism	OMIM:600501
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Methionine Malabsorption Syndrome	Aminoaciduria, White hair, Blue irides, Positive ferric chloride test	OMIM:250900
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Griscelli Syndrome	Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Splenomegal...	ORPHA:381
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Premature grayin...	ORPHA:3322
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia	OMIM:608104
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo...	OMIM:618885
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Hereditary Methemoglobinemia	Methemoglobinemia, Abnormality of the nail	ORPHA:621
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Thrombocytopenia, Splenomega...	OMIM:214500
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Anemia	OMIM:266900
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Lymphopenia, Multiple cafe-au-lait spots	ORPHA:100
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Obesity And Hypopigmentation	Red hair	OMIM:620195
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia	ORPHA:98791
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature graying of hair, Leukopen...	OMIM:613989
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Hermansky-Pudlak Syndrome 11	Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris transillumina...	OMIM:619172
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat...	ORPHA:231226
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat...	ORPHA:231214
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia, Anemia	OMIM:174000
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen	ORPHA:230
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Abnormality of hair pigmentation, Decreased LDL cho...	OMIM:618156
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop...	ORPHA:167
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration	ORPHA:247691
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia	ORPHA:29073
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Supernumerary nipple	OMIM:614376
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia	ORPHA:79254
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration...	ORPHA:36234
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Hypoplastic toenails, Elevated circulating lo...	OMIM:608836
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair...	ORPHA:84064
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Low anterior hairline, Retic...	ORPHA:124
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, White hair, Anemia, Fine hair	ORPHA:935
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive...	ORPHA:49041
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Hyperbilirubinemia	OMIM:609734
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia...	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 hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ocular albinism, Anemia, Iris hypopigmentation	ORPHA:2719
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype...	ORPHA:340
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal...	ORPHA:411634
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, N...	ORPHA:79430
Vici Syndrome	Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Ocular al...	OMIM:242840
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Abnormality of retinal pigmentation, Elevated circulating C-reactive protein c...	ORPHA:91500
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, ...	ORPHA:163746
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Degcags Syndrome	Abnormal eyebrow morphology, Pancytopenia, Hypopigmentation of hair, Congenital hypoplastic anemi...	OMIM:619488
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture	ORPHA:96169
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of hair, Splenomegaly, Retinal pigment epithelial mottling, Genera...	OMIM:219800
Pauci-Immune Glomerulonephritis	Granulomatosis, Elevated circulating creatinine concentration	ORPHA:93126
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Prader-Willi Syndrome	Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation...	OMIM:176270
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s...	ORPHA:177907
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Igg4-Related Kidney Disease	Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le...	ORPHA:449395
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98754
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177901
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat...	OMIM:619534
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Hypopigmentation of hair, Elevated circulating 7-dehydrocholesterol ...	ORPHA:818
Kleine-Levin Syndrome		ORPHA:33543

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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