Gene Summary

Name:
tripartite motif-containing 9
Synonyms:
C030048G07Rik

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
small prostate gland Trim9em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lung morphology Trim9em1(IMPC)Ccpcz HOM Early adult 0.00
decreased effector memory T-helper cell number Trim9em1(IMPC)Ccpcz HOM Early adult 5.51×10-08
abnormal retina morphology Trim9em1(IMPC)Ccpcz HOM   Early adult 1.36×10-05
enlarged kidney Trim9em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal kidney morphology Trim9em1(IMPC)Ccpcz HOM Early adult 0.00
decreased spleen weight Trim9em1(IMPC)Ccpcz HOM Early adult 7.29×10-06
abnormal prostate gland morphology Trim9em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebral arch morphology Trim9em1(IMPC)Ccpcz HOM Early adult 5.74×10-09
decreased circulating sodium level Trim9em1(IMPC)Ccpcz HOM Early adult 7.96×10-07

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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.

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Forepaw

15 Images

Human diseases caused by Trim9 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 Trim9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Chudley-Mccullough Syndrome
Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hydrocephalus, Gra... OMIM:604213
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul... OMIM:619902
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi... ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Cortical dysplasia,... OMIM:614039
Mirage Syndrome
Hyperkalemia, Microphallus, Aspiration pneumonia, Recurrent urinary tract infections, Decreased t... OMIM:617053
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperur... OMIM:613845
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Abnormal pleura morphology, Renal insufficie... ORPHA:549
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Pulmonary cyst, Nephroblastoma, Kyphosis, Sacral dimple, Enlarged kidney OMIM:618272
Hereditary Coproporphyria
Nephropathy, Dark urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concen... ORPHA:79273
Kaposiform Lymphangiomatosis
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Hepatosplenomegaly, Abnormal t... ORPHA:464329
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Cryptorchidism, Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:614736
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Short neck, Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged ki... OMIM:613885
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Microphallus, Bifid scrotum, Absent scrotum, Cryptorchidism, Adrenal hyperplasia, Hyponatremia, M... OMIM:201810
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Short neck, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrov... OMIM:617303
Aica-Ribosiduria Due To Atic Deficiency
Optic atrophy, Clitoral hypertrophy, Hyponatremia, Fused labia minora, Elevated urinary 5-amino-4... OMIM:608688
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Abnormal labia majora morphology, Congenital adrenal hyperplasia, Decreased... ORPHA:90791
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenome... OMIM:617913
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Recurrent respiratory infections, Hyperkalemia OMIM:264350
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... ORPHA:91354
Adrenal Hypoplasia, Congenital
Precocious puberty, Azoospermia, Cryptorchidism, Hyponatremia, Hypogonadotropic hypogonadism, Oli... OMIM:300200
Diaphanospondylodysostosis
Pulmonary hypoplasia, Unossified sacrum, Delayed vertebral ossification, Nephrogenic rest, Horses... OMIM:608022
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct proliferation, Renal... OMIM:208540
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia, Goiter ORPHA:83601
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... ORPHA:85445
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:250972
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung lobation, Cholestasis, ... OMIM:615415
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... ORPHA:500166
Wolcott-Rallison Syndrome
Chronic kidney disease, Hypoalbuminemia, Exocrine pancreatic insufficiency, Abnormality of the li... ORPHA:1667
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:203400
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Recurrent upper respiratory tract infections, Hypomagnesemia, Pleural effusion, ... OMIM:618183
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:610600
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Central Diabetes Insipidus
Hyponatremia, Nocturia ORPHA:178029
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... OMIM:620317
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent tonsillitis, Increased circulating renin level, Hyponatremia, Hyperkale... ORPHA:171876
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Familial Dysautonomia
Optic atrophy, Abnormal pleura morphology, Renal insufficiency, Hyponatremia, Glomerulopathy, Abn... ORPHA:1764
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperpla... ORPHA:90790
Snakebite Envenomation
Hypopituitarism, Acute kidney injury, Hyponatremia, Thrombocytopenia ORPHA:449285
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concentration, Hy... ORPHA:100924
Porphyria Variegata
Chronic kidney disease, Abnormality of the liver, Increased urinary porphobilinogen, Abnormal cir... ORPHA:79473
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620157
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Aminoac... OMIM:219800
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Hypernatriuria, Recurrent urinary tract infections, Az... ORPHA:361
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Splenom... OMIM:232220
Paternal Uniparental Disomy Of Chromosome 1
Abnormal retinal morphology on macular OCT, Proteinuria, Episodic hemolytic anemia, Increased blo... ORPHA:251004
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Hydronephrosis, Urethral atre... OMIM:314390
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Short neck, Pancreatic fibrosis, Hepatomegaly, Extrapulmonary loba... OMIM:200995
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Renal sodium wasting, Increased circulating renin level ORPHA:556037
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros... ORPHA:449395
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatre... ORPHA:31824
Alg12-Cdg
Hypoalbuminemia, Recurrent pneumonia, Hypocholesterolemia, Cryptorchidism, Hyponatremia, B lympho... ORPHA:79324
Alg8-Cdg
Optic atrophy, Retinopathy, Hyponatremia, Thrombocytopenia, Anemia ORPHA:79325
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Renal insufficiency, Hypocalcemia, Leukocytosis, Hyponatremia, Elev... ORPHA:247353
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Renal sodium wasting, Increased circulating renin level ORPHA:556030
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Shigellosis
Pneumonia, Acute kidney injury, Microangiopathic hemolytic anemia, Urethritis, Cholestasis, Leuko... ORPHA:810
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Aspiration pneumonia, Hypomagnesemia, Leukocytosis, Hypoc... ORPHA:94093
Ch├ędiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Pleur... ORPHA:167
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Lissencephaly Due To Tuba1A Mutation
Dysgenesis of the basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of c... ORPHA:171680
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia ORPHA:1930
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi... ORPHA:411634
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Microcytic anemia, Hepatosplenomegaly, Hype... ORPHA:168569
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Optic atrophy, Heparan sulfate excretion in urine, ... ORPHA:505248
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased response to growth h... ORPHA:293978
Cholera
Acute kidney injury, Aspiration pneumonia, Hypocalcemia, Hypokalemia, Hyponatremia, Decreased uri... ORPHA:173
Whipple Disease
Pleuritis, Splenomegaly, Hyponatremia, Hepatomegaly, Anemia, Mediastinal lymphadenopathy ORPHA:3452
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Lymphoid Interstitial Pneumonia
Subpleural interstitial thickening, Respiratory tract infection, Multiple pulmonary cysts, Hepato... ORPHA:79128
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... ORPHA:90038
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Vesicoureteral reflux, Cryptorchidism, Hyd... OMIM:615926
Holoprosencephaly
Optic atrophy, Abnormality of the urinary system, Abnormal form of the vertebral bodies, Choriore... ORPHA:2162
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Renal dysplasia, Increased total biliru... OMIM:608836
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Acute kidney injury, Oliguria, Brain abscess, Anuria, Hemolytic anemia, Leukocytosis, ... ORPHA:544482
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Chorioretinal dyspl... ORPHA:534
Adenohypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95512
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Meacham Syndrome
Accessory spleen, Horseshoe kidney, Septate vagina, Scimitar anomaly, Congenital alveolar dysplas... OMIM:608978
Panhypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95513
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur... OMIM:232200
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis... ORPHA:276280
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hyponatremia, Hepatitis ORPHA:199296
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Renal salt wasting, H... ORPHA:427
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem... ORPHA:79276
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Nephrocalcinosis, Eleva... OMIM:276700
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hyperkalemia, Hypernatriuria, Abnormal urine potassium concentration, Hepatospl... ORPHA:275761
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Pituitary adenoma, Hepatitis, Macrocytic anemia, Hyperuricemia, Hyponatremia, ... ORPHA:199299
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Stage 5 chronic ki... ORPHA:89938
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Pulmonary edema, Abnormal hepatic ech... OMIM:619991
Acute Adrenal Insufficiency
Normocytic anemia, Recurrent acute respiratory tract infection, Renal insufficiency, Hyperuricemi... ORPHA:95409
Rabin-Pappas Syndrome
Hyponatremia, Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620155
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Peritonitis, Thrombocytopenia, Neutropenia ORPHA:391673
Glucose-Galactose Malabsorption
Renal insufficiency, Nephrolithiasis, Hematuria, Hypercalcemia, Hypernatremia ORPHA:35710
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Pituitary Apoplexy
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Decreased resp... ORPHA:95613
Addison Disease
Normocytic anemia, Thymoma, Renal salt wasting, Thiamine-responsive megaloblastic anemia, Hyperur... ORPHA:85138
Sheehan Syndrome
Secondary growth hormone deficiency, Breast hypoplasia, Panhypopituitarism, Gonadotropin deficien... ORPHA:91355
Mucolipidosis Ii Alpha/Beta
Atlantoaxial dislocation, Recurrent pneumonia, Hypoplasia of the odontoid process, Increased seru... OMIM:252500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Hyperlipidemia, Hepatic steatosis, Hyperuricemi... ORPHA:79259
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Renal cortical cysts,... OMIM:130650
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Hypernatriuria, Hyperkalemia, De... ORPHA:90794
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:619313
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Scimitar anomaly, Cryptorchidism, Hepatopulmonary fusion, Aplasi... OMIM:618280
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Ambiguous genitalia, Micropenis, Scoliosis, Polycystic kidney dysplasia, Enlarge... OMIM:613091
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney OMIM:618188
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Hyperammonemia, Elevated circulating creatine kinase concentration, Hyponatremia, ... OMIM:610505
Microphthalmia, Syndromic 9
Renal hypoplasia, Agenesis of pulmonary vessels, Multilobulated spleen, Horseshoe kidney, Alveola... OMIM:601186
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... ORPHA:223
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Hypospa... OMIM:612651
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Polyuria, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Polyuria, Megacystis OMIM:304800
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Abnormal lung lobation, Hepatic cysts, Abnormal r... ORPHA:79328
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ... ORPHA:116
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Hyperkalemia, Vesicovaginal fistula, Bifid scrotum, Horsesho... OMIM:201750
Japanese Encephalitis
Pulmonary edema, Hyponatremia, Neutrophilia ORPHA:79139
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Hypoalbuminemia, Reduced natural killer cell count, Anoperineal fistula, Bronchitis, H... OMIM:619381
Proteus Syndrome
Pulmonary cyst, Chorioretinal coloboma, Pulmonary bulla, Retinal nonattachment, Enlarged polycyst... ORPHA:744
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Retinal coloboma, Bifid ureter, Transient neutropenia, Nephroblasto... ORPHA:500095
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Block vertebrae, Absence of the sacrum, Renal agenesis, ... OMIM:306955
Infant Botulism
Hyponatremia ORPHA:178478
Ogden Syndrome
Peripheral pulmonary artery stenosis, Scoliosis, Polycythemia, Decreased testicular size, Hyperbi... OMIM:300855
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissencephaly OMIM:614833
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529799
Leprechaunism
Clitoral hypertrophy, Long penis, Nephrocalcinosis, Overgrowth of external genitalia, Labial hype... ORPHA:508
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Increased circulating prolactin concentration, Decr... ORPHA:293987
Mucolipidosis Iv
Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination OMIM:252650
Gracile Bone Dysplasia
Micropenis, Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... ORPHA:3008
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Patent urachus OMIM:618252
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Decreased response to growth hormone stimu... OMIM:615873
Combined Oxidative Phosphorylation Deficiency 54
Secondary microcephaly, Periventricular nodular heterotopia, Dysplastic corpus callosum, Perivent... OMIM:619737
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matter morphology, Perivent... OMIM:616900
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Duplication of renal pelvis, Polysplenia, Abnormal lung ... OMIM:312870
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Recurrent lower respiratory tract infections, Hyponatremia OMIM:618426
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... ORPHA:699
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Recurrent respiratory infections, Hypernatremia OMIM:615508
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Abnormal retinal morphology ORPHA:89844
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Cardiomegaly, Pleural effusion, Enlarged kidney OMIM:261740
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Abnormal cortical gyration, Progressive microcephaly, Hypoplasia of t... ORPHA:2524
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Hematuria, Thrombocytope... OMIM:185070
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Simplified gyral pattern OMIM:620001
Hartsfield Syndrome
Cryptorchidism, Gonadotropin deficiency, Micropenis, Hypospadias, Hypernatremia OMIM:615465
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Thrombocytopenia OMIM:620423
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dyspl... ORPHA:488627
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Cardiomegaly, Hypoplastic spleen OMIM:620642
Microcephaly 26, Primary, Autosomal Dominant
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Pachygyria, Simplifi... OMIM:619179
Autosomal Recessive Cutis Laxa Type 2A
Secondary microcephaly, Dysplastic corpus callosum, Primary microcephaly, Pachygyria, Thick cereb... ORPHA:357058
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Microcephaly OMIM:618010
Kapur-Toriello Syndrome
Pachygyria, Dysplastic corpus callosum, Polymicrogyria ORPHA:2328
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr... OMIM:619103
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Developmental And Epileptic Encephalopathy 49
Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum, Microcephaly, Hy... OMIM:617281
Cerebrofacioarticular Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic corpus callosum, Micro... ORPHA:314679
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum OMIM:619423
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c... OMIM:614924
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Lateral ventricle dilatation, Periventricular cysts, Dysplastic corpus callosum, Hyperintensity o... ORPHA:544488
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal form of the vertebral bodies, Enlarged vertebral pedicles, Biconcave ... ORPHA:666
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... OMIM:618820
Myhre Syndrome
Platyspondyly, Enlarged vertebral pedicles, Cryptorchidism, Short neck, Vertebral fusion OMIM:139210
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum OMIM:618569
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Lenz-Majewski Hyperostotic Dwarfism
Cerebral cortical atrophy, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly,... OMIM:151050
Zttk Syndrome
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Periventricular leukomalac... OMIM:617140
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal cerebral cortex morphology, Lateral ventricle dilatation, Polymicrogyria, Ischemic strok... ORPHA:500150
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Thick corpus callosum OMIM:300967
Witteveen-Kolk Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Cortical dysplasia, ... OMIM:613406
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum ORPHA:466791

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 Trim9

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 Trim9.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The E3 Ubiquitin Ligase TRIM9 Is a Filopodia Off Switch Required for Netrin-Dependent Axon Guidance. Developmental cell (December 2015) Trim9tm1a(KOMP)Mbp PMC4707677

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
Trim9em1(IMPC)Ccpcz Indel Mice
Trim9tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Trim9tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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