Gene Summary

tripartite motif-containing 9

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
abnormal lung morphology Trim9em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged kidney Trim9em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal kidney morphology Trim9em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebral arch morphology Trim9em1(IMPC)Ccpcz HOM Early adult 5.86×10-09
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
decreased effector memory T-helper cell number Trim9em1(IMPC)Ccpcz HOM Early adult 5.51×10-08
decreased circulating sodium level Trim9em1(IMPC)Ccpcz HOM Early adult 7.96×10-07
small prostate gland Trim9em1(IMPC)Ccpcz HOM Early adult 0.00

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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.


XRay Images Skull Dorso Ventral Orientation

15 Images


XRay Images Hind Leg and Hip

30 Images


XRay Images Forepaw

15 Images


XRay Images Skull Lateral Orientation

15 Images


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

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
Matching phenotypes Source
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum OMIM:269160
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of th... OMIM:604213
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Hypersplenism, Jaundice, Hepatocellular ... OMIM:619902
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Abnormal cerebral cortex morphology, ... ORPHA:101029
Mirage Syndrome
Leukopenia, Anemia, Aspiration pneumonia, Shawl scrotum, Microphallus, Decreased testicular size,... OMIM:617053
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology, Hyponatremia ORPHA:3225
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Pulmonary hypoplasia, Absence of r... OMIM:602088
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Anemia, Hyponatremia, Beta 2-microglobulinuria, Microscopic hematuria, Gly... ORPHA:97362
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Anemia, Hyperuricemia, Renal salt wasting, Pancytopenia, Increased blood urea nitroge... OMIM:613845
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia OMIM:616949
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Back pain, Porphyrinuria, Anemia, Hepatocellular ca... ORPHA:79273
Nephronophthisis 16
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... OMIM:615382
Legionnaires Disease
Abnormal pleura morphology, Hepatitis, Jaundice, Pancreatitis, Hematuria, Recurrent pharyngitis, ... ORPHA:549
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hyperkalemia, Renal salt wasting, Cryptorchidism, Hyponatremia OMIM:614736
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Nephroblastoma, Kyphosis, Enlarged kidney, Pulmonary cyst OMIM:618272
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Hepatic cysts, Periport... OMIM:263200
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Anemia, Abnormality of the cervical spine, Enlarged kidney, Abnor... ORPHA:464329
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Scrotal hypospadias, Ambiguous genitalia, Absent scrotum, Hyponatremia, Microphallus, Bifid scrot... OMIM:201810
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Meckel Syndrome, Type 8
Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Short neck, Hyperechogenic kid... OMIM:613885
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Abnormal ext... ORPHA:556037
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Medullary nephrocalcinosis, Increased circulating renin level, Hypochloremia, Polyur... OMIM:300971
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Recurrent respiratory infections, Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:264350
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... ORPHA:91354
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Ambiguous genitalia, female, Decreased testicular size, Ambig... ORPHA:90791
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Abnormal ext... ORPHA:556030
Adrenal Hypoplasia, Congenital
Precocious puberty, Hyponatremia, Azoospermia, Renal salt wasting, Oligospermia, Cryptorchidism, ... OMIM:300200
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Renal dysplasia, Pulmonary hypoplasia, Malformation of the hepatic d... OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia, Abnormal lung lobation, Pulm... OMIM:615415
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lympha... OMIM:603553
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating renin level, Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Increased circulating renin level, Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:203400
Absent in utero ossification of vertebral bodies, Unossified sacrum, Abnormal liver lobulation, D... OMIM:608022
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Hypernatriuria, De... OMIM:300539
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k... ORPHA:85445
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatoblastoma, Reduced renal corti... ORPHA:731
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... ORPHA:500166
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Renal dysplasia, Pleural effusion... OMIM:618183
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Urethral atresia, Enlarged kidney, Abnormal vertebral morphology, Pulmonary hypopl... OMIM:314390
Wolcott-Rallison Syndrome
Abnormality of the liver, Exocrine pancreatic insufficiency, Lymphocytosis, Hyperbilirubinemia, J... ORPHA:1667
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Leukopenia, Anemia, Neutropenia, Recurrent respiratory infections, Nephrot... OMIM:617303
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Calcinosis, Hypokalemia, Renal artery stenosis, Hyponatremia, Renal hypoplasia, Ne... OMIM:617913
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... ORPHA:730
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Recurrent upper and lower respiratory tract infe... ORPHA:171876
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged ... ORPHA:90301
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Abnormality of female external genitalia, Jaundice, Hyperkalemia, Adrenal hyperpl... ORPHA:90790
Central Diabetes Insipidus
Nocturia, Hyponatremia ORPHA:178029
Denys-Drash Syndrome
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Nephroblastoma, Ambiguous... OMIM:194080
Snakebite Envenomation
Acute kidney injury, Thrombocytopenia, Hypopituitarism, Hyponatremia ORPHA:449285
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Purple urine, Abnormal erythrocyte enzyme level, In... ORPHA:100924
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Aica-Ribosuria Due To Atic Deficiency
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Fused labia minora, Clitoral hype... OMIM:608688
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Hyponatremia, Abnorma... ORPHA:168558
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pulmonary hypoplasia, Sho... OMIM:200995
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Hyponatremia, Abnorma... ORPHA:289548
Hemolytic-uremic syndrome, Acute kidney injury, Microangiopathic hemolytic anemia, Abscess, Perit... ORPHA:810
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Porphyria Variegata
Abnormal circulating porphyrin concentration, Back pain, Porphyrinuria, Anemia, Abnormality of th... ORPHA:79473
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Testicular adrenal rest tumor, Recurrent urinary tract... ORPHA:361
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Oliguria, Leukocyt... ORPHA:31824
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, H... OMIM:613090
Webb-Dattani Syndrome
Vesicoureteral reflux, Decreased response to growth hormone stimulation test, Neurogenic bladder,... OMIM:615926
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... ORPHA:411634
Familial Dysautonomia
Glomerulopathy, Abnormal pleura morphology, Abnormality of the kidney, Abnormality of the periton... ORPHA:1764
Glycogen Storage Disease Ib
Hyperuricemia, Neutropenia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Decreased gl... OMIM:232220
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia, Goiter, Hyponatremia ORPHA:83601
Neuroleptic Malignant Syndrome
Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Aspiration pneumonia, Acute kidney injury... ORPHA:94093
Herpes Simplex Virus Encephalitis
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia ORPHA:1930
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice, Hyperkalemia, Hyponatremia ORPHA:199296
Lissencephaly Due To Tuba1A Mutation
Perisylvian polymicrogyria, Agyria, Dysgenesis of the basal ganglia, Lissencephaly, Partial agene... ORPHA:171680
H Syndrome
Hypertriglyceridemia, Hypogonadism, Bronchiectasis, Decreased testicular size, Enlarged kidney, A... ORPHA:168569
Aspiration pneumonia, Abnormality of renal excretion, Acute kidney injury, Decreased urine output... ORPHA:173
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Impaired renal concentrating ability, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchlor... OMIM:602522
Whipple Disease
Anemia, Pleuritis, Hepatomegaly, Hyponatremia, Mediastinal lymphadenopathy, Splenomegaly ORPHA:3452
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... OMIM:219800
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Renal interstitial immunoglobul... ORPHA:449395
Chédiak-Higashi Syndrome
Anemia, Hypertriglyceridemia, Neutropenia, Recurrent respiratory infections, Jaundice, Pancytopen... ORPHA:167
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Acute kidney injury, Hemoglobinuria, Microangiopathic hemolytic anemia, Unconjugated hype... ORPHA:90038
B lymphocytopenia, Recurrent pharyngitis, Recurrent pneumonia, Hypospadias, Hypocholesterolemia, ... ORPHA:79324
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Bronchie... ORPHA:293978
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:177735
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... OMIM:608836
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney, Hydrocele testis, Scoliosis, Ovarian serous cystadenoma, Abnorma... ORPHA:276280
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Respiratory tract infection, Anuria, Brain abscess, Hemolytic anemia... ORPHA:544482
Lymphoid Interstitial Pneumonia
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Enlarged kidney,... ORPHA:79128
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicornuate uterus, Enlarged kidney, Congenit... OMIM:608978
Hyposthenuria, Abnormal size of pituitary gland, Gonadotropin deficiency, Increased circulating p... ORPHA:95512
Hyposthenuria, Increased circulating prolactin concentration, Gonadotropin deficiency, Abnormal s... ORPHA:95513
Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Renal salt wasting, Proximal renal tubular acido... ORPHA:427
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, Increased b... ORPHA:251004
Necrotizing Enterocolitis
Peritonitis, Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia ORPHA:391673
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hepatitis, Normocytic anemia, Pituitary adenoma, Hyperkalemia, Hypoparathyroidism,... ORPHA:199299
Thrombocytopenia, Anemia, Hyponatremia ORPHA:79325
Tyrosinemia, Type I
Hypermethioninemia, Anemia, Cirrhosis, Enlarged kidney, Hepatocellular carcinoma, Glomerular scle... OMIM:276700
Glucose-Galactose Malabsorption
Hematuria, Hypercalcemia, Renal insufficiency, Hypernatremia, Nephrolithiasis ORPHA:35710
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Recurrent respiratory infections, Nephrotic syndrome, Lumbar hyperlordosis, E... ORPHA:505248
Acute Intermittent Porphyria
Urinary incontinence, Back pain, Porphyrinuria, Urinary retention, Dysuria, Hepatocellular carcin... ORPHA:79276
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Hypoornithinemia, Hyperalaninemia, Ketonuria, Elevated uri... OMIM:615751
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Glomerulopathy, Hyponatremia, Hypercholesterolemia, Thrombocytopenia, Nephrolithia... ORPHA:534
Pituitary Apoplexy
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:95613
Lysosomal Acid Lipase Deficiency
Abnormal urine potassium concentration, Hypercholesterolemia, Anemia, Hepatic fibrosis, Microvesi... ORPHA:275761
Hyponatremia, Anterior hypopituitarism, Aplasia/Hypoplasia of the lungs, Hypoplasia of penis, Pan... ORPHA:2162
Bartter Syndrome Type 4
Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Hypoka... ORPHA:89938
Acute Adrenal Insufficiency
Hyperuricemia, Normocytic anemia, Hyperkalemia, Renal salt wasting, Increased circulating renin l... ORPHA:95409
Liver Disease, Severe Congenital
Aminoaciduria, Portal inflammation, Elevated circulating alpha-fetoprotein concentration, Hepatic... OMIM:619991
Hepatocellular Carcinoma
Hemobilia, Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Hypokalemia, Hyperb... ORPHA:88673
Addison Disease
Thymoma, Hyperuricemia, Primary testicular failure, Normocytic anemia, Hyperkalemia, Renal salt w... ORPHA:85138
Sheehan Syndrome
Hyposthenuria, Abnormal size of pituitary gland, Gonadotropin deficiency, Panhypopituitarism, Red... ORPHA:91355
Glycogen Storage Disease Ia
Hyperuricemia, Enlarged kidney, Hepatocellular carcinoma, Decreased glomerular filtration rate, H... OMIM:232200
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Chronic neutropenia, Anemia, Hyperuricemia, Stage 5 chronic kidney disease,... ORPHA:79259
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, Ambiguous genitalia... ORPHA:90794
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Lower thoracic interpediculate narrowness, Lumbar scoliosis,... OMIM:252500
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Cardiomegaly, Renal cortical cysts, Pancre... OMIM:130650
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Scoliosis, Mi... OMIM:613091
Nephrogenic Diabetes Insipidus
Hyposthenuria, Enuresis nocturna, Hydroureter, Renal insufficiency, Hypernatremia, Functional abn... ORPHA:223
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Polyuria, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Polyuria, Megacystis OMIM:304800
Microphthalmia, Syndromic 9
Hydronephrosis, Agenesis of pulmonary vessels, Bilateral lung agenesis, Bicornuate uterus, Renal ... OMIM:601186
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Splenic cyst, Unilateral renal agenesis, Hyperparathyroidism, Ovarian cyst OMIM:618188
Ambiguous genitalia, Sex reversal, Microphallus, Enlarged kidney, Hypospadias, Cryptorchidism, Hy... OMIM:612651
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Bifid scrotum, Enlarged kidney, Patent urachus, Pulmonary hypoplasia, Unilat... OMIM:618280
Hypoplasia of the bladder, Periportal fibrosis, Bicornuate uterus, Enlarged kidney, Abnormal lung... ORPHA:79328
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Hypoplasia of the vagina, Vertebral segmentation defect, Abnormality of the kid... ORPHA:3109
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Vesicovaginal fistula, Bifid scrotum, Fused labia majora, Decreased circulat... OMIM:201750
Japanese Encephalitis
Neutrophilia, Pulmonary edema, Hyponatremia ORPHA:79139
Immunodeficiency 82 With Systemic Inflammation
Bronchitis, Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Bron... OMIM:619381
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Lissencephaly, Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Polymicrogyria OMIM:614833
Infant Botulism
Hyponatremia ORPHA:178478
Beckwith-Wiedemann Syndrome
Gonadoblastoma, Elevated circulating alpha-fetoprotein concentration, Hepatoblastoma, Hepatomegal... ORPHA:116
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Asplenia, Biliary atresia, Absence of the sacrum, Block vertebrae, Enlar... OMIM:306955
Ogden Syndrome
Microvesicular hepatic steatosis, Pulmonary edema, Decreased testicular size, Enlarged kidney, Po... OMIM:300855
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... ORPHA:529799
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased response to gro... ORPHA:293987
Clitoral hypertrophy, Enlarged kidney, Hypokalemia, Labial hypertrophy, Increased circulating ren... ORPHA:508
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hyperammonemia, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:610505
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis OMIM:602361
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Chronic neutropenia, Multicystic kidney dysplasia, Bifid ureter, Renal malrotatio... ORPHA:500095
Mucolipidosis Iv
Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination OMIM:252650
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Lacticaciduria, Neonatal hype... ORPHA:3008
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Recurrent respiratory infections OMIM:615508
Combined Oxidative Phosphorylation Deficiency 54
Secondary microcephaly, Dysplastic corpus callosum, Periventricular nodular heterotopia, Perivent... OMIM:619737
Helsmoortel-Van Der Aa Syndrome
Hyperlordosis, Enuresis nocturna, Decreased response to growth hormone stimulation test, Recurren... OMIM:615873
Simpson-Golabi-Behmel Syndrome, Type 1
Nephroblastoma, Enlarged kidney, Vertebral segmentation defect, Polysplenia, Abnormal lung lobati... OMIM:312870
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Recurrent lower respiratory tract infections, Hyponatremia OMIM:618426
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum OMIM:601016
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Agenesis of corpus callosum, Colpocephaly OMIM:619955
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Periventricular leukomalacia, Small basal gangl... OMIM:616900
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Hematuria, Elevated circulating creatine kinase concentrat... OMIM:185070
Glycogen Storage Disease Of Heart, Lethal Congenital
Pleural effusion, Enlarged kidney, Cardiomegaly, Pulmonary edema OMIM:261740
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the corpus callosum, Progressive microcephaly, Dysplastic corpus callosum, Abnormal... ORPHA:2524
Pearson Syndrome
Reticulocytosis, Lacticaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Bone marrow... ORPHA:699
Hartsfield Syndrome
Gonadotropin deficiency, Hypospadias, Cryptorchidism, Hypernatremia, Micropenis OMIM:615465
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Simplified gyral pattern, Dysplastic corpus callosum, Microcephaly OMIM:620001
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Lateral ventricle dilatation, Multifocal cerebral white matter abnorma... ORPHA:488627
Microcephaly 26, Primary, Autosomal Dominant
Simplified gyral pattern, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Dysplastic... OMIM:619179
Autosomal Recessive Cutis Laxa Type 2A
Primary microcephaly, Secondary microcephaly, Thick cerebral cortex, Pachygyria, Dysplastic corpu... ORPHA:357058
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Partial agenesis of the corpus callosum, Focal polymicrogyria, Dysplastic corpus callosum, Microc... OMIM:619103
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Microcephaly, Hypoplasia of the corpus callosum, Dysplastic corpus callo... ORPHA:314679
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum OMIM:619423
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Leukoencephalopathy, Dysplastic c... OMIM:614924
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Periventricular cysts, Lateral ventricle dilatation, Hyperintensity of cerebral white matter on M... ORPHA:544488
Osteogenesis Imperfecta
Biconcave vertebral bodies, Kyphosis, Cervical kyphosis, Pulmonary hypoplasia, Enlarged vertebral... ORPHA:666
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria, Secondary microcephaly, Holoprosencephaly, Absent septum... OMIM:618820
Myhre Syndrome
Vertebral fusion, Platyspondyly, Enlarged vertebral pedicles, Short neck, Cryptorchidism OMIM:139210
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly OMIM:618569
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Lenz-Majewski Hyperostotic Dwarfism
Cerebral cortical atrophy, Spina bifida occulta, Microcephaly, Dysplastic corpus callosum, Agenes... OMIM:151050
Zttk Syndrome
Abnormal cerebral white matter morphology, Periventricular leukomalacia, Dysplastic corpus callos... OMIM:617140
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ischemic stroke, Lateral ventricle dilatation, Simplified gyral pattern, Periventricular leukomal... ORPHA:500150
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Thick corpus callosum, Dysplastic corpus callosum OMIM:300967
Witteveen-Kolk Syndrome
Bilateral polymicrogyria, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Dy... OMIM:613406
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum ORPHA:466791


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

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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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