Gene Summary

Name:
interferon-induced protein with tetratricopeptide repeats 3
Synonyms:
Ifi49

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
abnormal sternum morphology Ifit3em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Ifit3em1(IMPC)Tcp HOM Early adult 0.00
abnormal stomach morphology Ifit3em1(IMPC)Tcp HOM Early adult 0.00
increased startle reflex Ifit3em1(IMPC)Tcp HOM Early adult 5.93×10-06

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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.

Eye Morphology

Images Ophthalmoscopy

99 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

96 Images

Gross Pathology and Tissue Collection

Images

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Ifit3 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 Ifit3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Serrated Polyposis Syndrome
Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Neoplasm of the large intesti... ORPHA:157798
Hyperekplexia 2
Gastroesophageal reflux, Exaggerated startle response, Hiatus hernia OMIM:614619
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Hyperekplexia 3
Gastroesophageal reflux, Exaggerated startle response, Hiatus hernia OMIM:614618
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Radial deviation of finger, Clinodactyly OMIM:188025
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Rocker bottom foot, Short 5th finger, Pyloric stenosis, Congenital hip dislocation OMIM:133705
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Camptodac... OMIM:614262
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, Intestinal malrotation, Apla... ORPHA:2538
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... ORPHA:2494
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Clinodactyly of the 5th finger, Tapered finger, Hip dysplasia OMIM:617219
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis, Syndactyly OMIM:226700
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang... OMIM:161700
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Periventricular Nodular Heterotopia
Pyloric stenosis, Shoulder dislocation, Gastroesophageal reflux ORPHA:98892
Systemic Sclerosis
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Osteolytic defects of the... ORPHA:90291
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Gastroesophageal reflux, Athetosis, Blepharospasm, Limb dystonia,... OMIM:608643
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix, Clubbing OMIM:620367
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Clinodactyly of the 5th finger, Tremor, High palate, Exaggerated startle resp... OMIM:618056
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Tremor, Dystonia, Abnormal duodenum morphology, Abnormal stomach mor... ORPHA:512
Hyperekplexia 1
Exaggerated startle response, Hip dislocation OMIM:149400
Craniorachischisis
Anal atresia, Bifid sternum ORPHA:63260
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Exaggerated startle response OMIM:618598
Gm1 Gangliosidosis Type 1
Spatulate ribs, Broad long bone diaphyses, Short long bone, Broad metacarpals, Flared iliac wing,... ORPHA:79255
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Gastroesophageal reflux, Exaggerated startle response OMIM:620114
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Hip contracture, Dysphagia, Overlapping toe, Hip dislocation OMIM:617301
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hepatoportal Sclerosis
Gastric varix, Esophageal varix, Gastrointestinal hemorrhage, Hepatocellular carcinoma ORPHA:64743
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Gastroesophageal reflux, Exaggerated startle response OMIM:608800
Plaa-Associated Neurodevelopmental Disorder
Rocker bottom foot, Hyperextensibility of the finger joints, Postaxial hand polydactyly, High pal... ORPHA:521426
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Ulnar-Mammary Syndrome
Abnormal metacarpal morphology, Abnormal finger morphology, Ectopic anus, Postaxial hand polydact... ORPHA:3138
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... ORPHA:141127
Osteogenesis Imperfecta, Type X
Genu valgum, Fibular bowing, Thin ribs, Tibial bowing, Bowing of the long bones, Pyloric stenosis... OMIM:613848
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Midgut malrotation, Congenital hip dislocation,... OMIM:263750
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Reynolds Syndrome
Abnormal gastric mucosa morphology, Dysphagia, Xerostomia, Gastroesophageal reflux ORPHA:779
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, High palate, Exaggerated startle response, Postaxial polydactyly, Long finger... OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, High palate, Exaggerated startle response ORPHA:438216
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Ulnar-Mammary Syndrome
Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd metacarpal, Short... OMIM:181450
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Esophageal Atresia
Gastrointestinal carcinoma, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal... ORPHA:1199
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Tay-Sachs Disease
Tremor, Exaggerated startle response, Dystonia, Dysphagia, Laryngeal dystonia ORPHA:845
Sandhoff Disease
Macroglossia, Exaggerated startle response OMIM:268800
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Asparagine Synthetase Deficiency
Gastroesophageal reflux, Tremor, Exaggerated startle response OMIM:615574
Coffin-Lowry Syndrome
Narrow palate, Rectal prolapse, Bifid sternum, Hyperextensibility of the finger joints, Narrow il... OMIM:303600
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Short humerus, Dysphagia, Short femur, Tapered finger OMIM:618367
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Viss Syndrome
Rocker bottom foot, Intestinal malrotation, Arachnodactyly, Malposition of the stomach, Bifid uvu... OMIM:619472
Hardikar Syndrome
Hematemesis, Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilater... OMIM:301068
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia ORPHA:79403
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short finger, Clinodactyly of the 5th finger, Broad toe, High palate, Short foot, Exaggerated sta... OMIM:619522
Williams Syndrome
Peptic ulcer, Rectal prolapse, Genu valgum, Clinodactyly of the 5th finger, Gastroesophageal refl... ORPHA:904
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Gastroesophageal reflux, Exaggerated startle response, Dystonia, Dysphagia, Hip dysplasia ORPHA:438213

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 Ifit3

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 Ifit3.

No publications found that use IMPC mice or data for Ifit3.

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MGI Allele Allele Type Produced
Ifit3em1(IMPC)Tcp Intra-exon deletion Mice

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