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
decreased effector memory T-helper cell number Trim9em1(IMPC)Ccpcz HOM Early adult 5.51×10-08
enlarged kidney Trim9em1(IMPC)Ccpcz HOM Early adult 0.00
decreased circulating sodium level Trim9em1(IMPC)Ccpcz HOM Early adult 4.88×10-07
small prostate gland Trim9em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lung morphology Trim9em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal prostate gland morphology 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 3.23×10-09
decreased spleen weight Trim9em1(IMPC)Ccpcz HOM Early adult 7.29×10-06

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral 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
phenotypes
Matching phenotypes Source
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Polymicro... OMIM:604213
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hyponatremia, Renal salt wasting, Hyperkalemia, Precocious puberty OMIM:614736
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Mirage Syndrome
Scoliosis, Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Lymphopenia, Shawl scrot... OMIM:617053
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Unilateral polymicrogyria, Frontoparietal cortical... OMIM:610031
Legionnaires Disease
Renal insufficiency, Abnormal lung morphology, Hematuria, Abnormal pleura morphology, Lymphopenia... ORPHA:549
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Pancreatic cysts, Hepatic cyst... OMIM:263200
Nephronophthisis 2
Nephronophthisis, Chronic tubulointerstitial nephritis, Enlarged kidney, Elevated circulating cre... OMIM:602088
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperechogenic kidneys, Hyponatremia, Hyperuricemia, Polyuria, Renal salt wasting, Thrombocytopen... OMIM:613845
Kaposiform Lymphangiomatosis
Abnormal lung morphology, Multiple renal cysts, Abnormal form of the vertebral bodies, Enlarged k... ORPHA:464329
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Hereditary Coproporphyria
Hepatocellular carcinoma, Dark urine, Hyponatremia, Back pain, Nephropathy, Elevated urinary delt... ORPHA:79273
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Abnormality of the vertebral column, Abnormal vertebral morphology, Enlarged ki... OMIM:314390
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Polycystic kidney dysplasia, Re... OMIM:615382
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Medullary nephrocalcinosis, Hypercalci... OMIM:300971
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia, P... OMIM:615415
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Azoospermia, Ambiguous genitalia, male, Clitoral hypertrophy, Hyponatremia, Conge... ORPHA:90791
Diaphanospondylodysostosis
Lumbosacral meningocele, Nephroblastomatosis, Short nose, Enlarged kidney, Nephrogenic rest, Cyst... OMIM:608022
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Recurrent respiratory infections, Renal salt wasting OMIM:264350
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Pancreatic cysts, Polysplenia, Hepatic cysts, Biliary cirrhosis, Panc... OMIM:208540
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Neutropenia, Hypoalbuminemia, Anemia, Leukopenia, Short neck, W... OMIM:617303
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, ... ORPHA:91354
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Oligospermia, Hyponatremia, Renal salt wasting, Hypogonadotropic hyp... OMIM:300200
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... 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
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Hyponatremia, Goiter, Leukocytosis ORPHA:83601
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia, Increased circulating renin level OMIM:203400
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Cholestasis, Hepatomegaly, ... ORPHA:85445
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Hypocalcemia, Pleural effusion, Hyponatremia, Polyuria, Hypertriglyceridemia, Ren... OMIM:618183
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, ... ORPHA:90301
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Macroorchidism, Pneumonia, Hyponatremia, Jaundice, Abnormality of female e... ORPHA:90790
Generalized Pseudohypoaldosteronism Type 1
Recurrent tonsillitis, Recurrent upper and lower respiratory tract infections, Hyponatremia, Incr... ORPHA:171876
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Hyponatremia, Polyuria, Increased urinary potassium,... OMIM:602522
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency, Hyperbilirubinemia, Hyp... ORPHA:1667
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Purple urine, Hyponatremia, Increased urinary... ORPHA:100924
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, P... ORPHA:730
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Central Diabetes Insipidus
Nocturia, Hyponatremia ORPHA:178029
Acrocephalopolydactylous Dysplasia
Extrapulmonary sequestrum, Short nose, Enlarged kidney, Cystic renal dysplasia, Polysplenia, Panc... OMIM:200995
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Snakebite Envenomation
Thrombocytopenia, Hyponatremia, Acute kidney injury, Hypopituitarism ORPHA:449285
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Female external genitalia in individual w... ORPHA:168558
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Pleuritis, Hematuria, Acute kidney injury, Interstitial pneu... ORPHA:449395
Shigellosis
Peritonitis, Microangiopathic hemolytic anemia, Acute kidney injury, Splenic abscess, Leukocytosi... ORPHA:810
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Renal sodium wasting, Hyponatremia, Increased circulating renin level ORPHA:556037
Porphyria Variegata
Neurogenic bladder, Hepatocellular carcinoma, Elevated urinary delta-aminolevulinic acid, Hyponat... ORPHA:79473
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Female external genitalia in individual w... ORPHA:289548
Familial Glucocorticoid Deficiency
Cryptorchidism, Azoospermia, Hypernatriuria, Hyponatremia, Recurrent urinary tract infections, Le... ORPHA:361
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Recurrent bronchitis, Autoimmune thrombocytopenia, Bronchiectasis, Recu... ORPHA:293978
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Oli... ORPHA:31824
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Hyponatremia, Polyuria, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Renal sodium wasting, Hyponatremia, Increased circulating renin level ORPHA:556030
Familial Dysautonomia
Scoliosis, Abnormality of the kidney, Abnormal pleura morphology, Abnormality of the peritoneum, ... ORPHA:1764
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Webb-Dattani Syndrome
Neurogenic bladder, Cryptorchidism, Hypernatremia, Pituitary hypothyroidism, Vesicoureteral reflu... OMIM:615926
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Acute kidney injury, Leukocytosis, Hypernatremia, Hyponatremia, Hyp... ORPHA:94093
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Bulbous nose, Enlarged kidney, Macro... OMIM:608836
H Syndrome
Recurrent pharyngitis, Azoospermia, Bronchiectasis, Microcytic anemia, Enlarged kidney, Histiocyt... ORPHA:168569
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Herpes Simplex Virus Encephalitis
Neutrophilia, Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1930
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Tyrosinemia, Type I
Cirrhosis, Hypertyrosinemia, Enlarged kidney, Renal Fanconi syndrome, Hepatocellular carcinoma, H... OMIM:276700
Whipple Disease
Pleuritis, Hyponatremia, Hepatomegaly, Anemia, Splenomegaly, Mediastinal lymphadenopathy ORPHA:3452
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Increased circulating ferritin concen... ORPHA:167
Hemihyperplasia-Multiple Lipomatosis Syndrome
Scoliosis, Hydrocele testis, Enlarged kidney, Ovarian serous cystadenoma, Nephroblastoma, Abnorma... ORPHA:276280
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Microangiopathic hemolytic anemia, Acute kidney injury, Reticulocytosis, Leukocytosi... ORPHA:90038
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Cholera
Hypocalcemia, Abnormality of renal excretion, Acute kidney injury, Hyponatremia, Abnormal blood i... ORPHA:173
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Ambiguous genitalia, Microphallus, Enlarged kidney, Sex reversal, Scrotal hypopla... OMIM:612651
Infection-Related Hemolytic Uremic Syndrome
Respiratory tract infection, Hypocalcemia, Hemolytic anemia, Pleuritis, Acute kidney injury, Leuk... ORPHA:544482
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Short nose, Enlarged kidney, Thoracic kyphosis, Lumbar kyphosis, Heavy proteinuria, H... ORPHA:505248
Adenohypophysitis
Panhypopituitarism, Hyposthenuria, Hyponatremia, Pituitary hypothyroidism, Adrenocorticotropic ho... ORPHA:95512
Panhypophysitis
Panhypopituitarism, Hyposthenuria, Hyponatremia, Pituitary hypothyroidism, Abnormality of the pos... ORPHA:95513
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia ORPHA:682
Familial Hypoaldosteronism
Hyponatremia, Renal salt wasting, Increased circulating renin level, Proximal renal tubular acido... ORPHA:427
Holoprosencephaly
Scoliosis, Cryptorchidism, Panhypopituitarism, Abnormal form of the vertebral bodies, Aplasia/Hyp... ORPHA:2162
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative ... ORPHA:251004
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hepatitis, Hyponatremia ORPHA:199296
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Normocytic anemia, Adrenocorticotropic hormone deficiency, Hepatitis... ORPHA:199299
Acute Intermittent Porphyria
Dysuria, Hepatocellular carcinoma, Dark urine, Hyponatremia, Back pain, Elevated urinary delta-am... ORPHA:79276
Necrotizing Enterocolitis
Peritonitis, Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia ORPHA:391673
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
Addison Disease
Hyperkalemia, Thiamine-responsive megaloblastic anemia, Primary testicular failure, Hyponatremia,... ORPHA:85138
Glucose-Galactose Malabsorption
Hematuria, Hypernatremia, Hypercalcemia, Renal insufficiency, Nephrolithiasis ORPHA:35710
Glycogen Storage Disease Ib
Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hyperuricemia, Neu... OMIM:232220
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Hypergonadotropic hypogonadism, Hyponatremia, ... ORPHA:95613
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Cryptorchidism, Hypercholesterolemia, Hematuria, Hypercalciuria, Anemia, Renal insuffi... ORPHA:534
Acute Adrenal Insufficiency
Recurrent acute respiratory tract infection, Hyponatremia, Hyperuricemia, Increased circulating r... ORPHA:95409
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Cystinosis, Nephropathic
Decreased plasma carnitine, Male hypogonadism, Exocrine pancreatic insufficiency, Generalized ami... OMIM:219800
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Hypercholesterolemia, Microvesicular hepatic steatosis, Vacuolated lympho... ORPHA:275761
Sheehan Syndrome
Panhypopituitarism, Hyposthenuria, Breast hypoplasia, Hyponatremia, Pituitary hypothyroidism, Adr... ORPHA:91355
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Increased circulating re... ORPHA:89938
Glycogen Storage Disease Ia
Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hyperuricemia, Hep... OMIM:232200
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Ambiguous genitalia, Urogenital sinus anomaly, Long penis, Premature pubarche, Hype... ORPHA:90794
Infant Botulism
Hyponatremia, Abnormality of the pharynx ORPHA:178478
Beckwith-Wiedemann Syndrome
Cryptorchidism, Renal cortical cysts, Enlarged kidney, Gonadoblastoma, Hepatomegaly, Pancreatic h... OMIM:130650
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Tubulointerstitial fibrosis, Enlarged kidney, Hepatocellular adenoma, Hepat... ORPHA:79259
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Thrombocytosis, Hemobilia, Polycythemia, Hyperbilirubinem... ORPHA:88673
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Ambiguous genitalia, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia, Mi... OMIM:613091
Nephrogenic Diabetes Insipidus
Hyposthenuria, Hydroureter, Hypernatremia, Functional abnormality of the bladder, Enuresis noctur... ORPHA:223
Microphthalmia, Syndromic 9
Cryptorchidism, Renal malrotation, Horseshoe kidney, Renal hypoplasia, Hypoplasia of the uterus, ... OMIM:601186
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia, Megacystis, Polyuria OMIM:304800
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal lung morphology, Horseshoe kidney, Renal hypo... ORPHA:2470
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Horseshoe kidney, Abnormal form of the vertebral bodies, Unilateral re... ORPHA:3109
Simpson-Golabi-Behmel Syndrome, Type 1
Scoliosis, Cryptorchidism, Abnormal lung lobation, Short nose, Anteverted nares, Enlarged kidney,... OMIM:312870
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Increased circulating renin level, Hepatomegaly, H... ORPHA:508
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:614833
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Scoliosis, Gonadotropin deficiency, Recurrent upper respiratory tract infections, Hyponatremia, E... ORPHA:293987
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Japanese Encephalitis
Neutrophilia, Hyponatremia, Pulmonary edema ORPHA:79139
Beckwith-Wiedemann Syndrome
Cryptorchidism, Pseudohypoparathyroidism, Hypercalciuria, Vesicoureteral reflux, Cardiomegaly, Ur... ORPHA:116
Hartsfield Syndrome
Cryptorchidism, Hypernatremia, Hypospadias, Micropenis, Wide nose, Gonadotropin deficiency OMIM:615465
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoal... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoal... ORPHA:529799
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum OMIM:252650
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Chronic neutropenia, Multicystic kidney dysplas... ORPHA:500095
Pyruvate Carboxylase Deficiency
Lacticaciduria, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-g... ORPHA:3008
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy OMIM:614924
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Recurrent respiratory infections OMIM:615508
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cerebral atr... OMIM:616900
Pearson Syndrome
Hypocalcemia, Proteinuria, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Anemi... ORPHA:699
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Progressive microcephaly, Dysplast... ORPHA:2524
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Wide nose, Wide nasal bridge ORPHA:89844
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Dilation of lateral ventricles, Cerebral cortical atrophy, Dys... ORPHA:488627
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Microcephaly 26, Primary, Autosomal Dominant
Pachygyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Simplified gyral patte... OMIM:619179
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Polymicrogyria, Pachygyria ORPHA:2328
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
Autosomal Recessive Cutis Laxa Type 2A
Pachygyria, Thick cerebral cortex, Primary microcephaly, Dysplastic corpus callosum, Secondary mi... ORPHA:357058
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microceph... ORPHA:314679
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum... ORPHA:544488
Myhre Syndrome
Cryptorchidism, Platyspondyly, Laryngotracheal stenosis, Enlarged vertebral pedicles, Vertebral f... OMIM:139210
Osteogenesis Imperfecta
Scoliosis, Abnormal form of the vertebral bodies, Biconcave vertebral bodies, Kyphosis, Enlarged ... ORPHA:666
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Gray matter heterotopia, Holoprosencephaly... OMIM:618820
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypoplasia of the corpus callosum, Microcephaly, Dysplastic corpus callosum OMIM:618569
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Zttk Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Periventricular leu... OMIM:617140
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Dysplastic corpus c... ORPHA:500150
Witteveen-Kolk Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Dysplastic corpus callosum, Decreased response t... OMIM:613406
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Pineal cyst, Thick corpus callosum OMIM:300967
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Anterior pituitary hypoplasia 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

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MGI Allele Allele Type Produced
Trim9em1(IMPC)Ccpcz Indel causing a Frameshift Mutation Mice
Trim9tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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