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Gene: Impact MGI:1098233

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Gene Summary

Name:
impact, RWD domain protein
Synonyms:
E430016J11Rik

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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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 Hind Leg and Hip

30 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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Human diseases caused by Impact 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 Impact by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Riboflavin Deficiency
Hypoglycemia, Hypothermia OMIM:615026
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypoglycemia, Hypothermia OMIM:245400
Primary Erythromelalgia
Hypothermia ORPHA:90026
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Hypothermia ORPHA:95717
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Umbilical hernia, Hypothermia, Large for gestational age ORPHA:226313
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Hypothermia, Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Timothy Syndrome
Hypoglycemia, Hypothermia OMIM:601005
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Inguinal hernia, Hypothermia OMIM:614498
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Elbow flexion contrac... OMIM:618493
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Hypothermia, Overweight, Obesity, Hypoketotic hypoglycemia ORPHA:26793
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Fever, Anorexia, Hypothermia, Weight loss, Recurrent hypoglycemia ORPHA:20
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypoglycemia, Hypothermia OMIM:618329
Meningococcal Meningitis
Fever, Hypothermia, Anorexia ORPHA:33475
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Hypothermia OMIM:251880
Familial Thyroid Dyshormonogenesis
Umbilical hernia, Hypothermia ORPHA:95716
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia, Hypothermia ORPHA:230
Alexander Disease
Diabetes mellitus, Hypothermia, Self-injurious behavior, Dysphagia, Failure to thrive ORPHA:58
Menkes Disease
Hypothermia OMIM:309400
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Hypothermia OMIM:618775
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Cyanosis, Hypothermia, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... ORPHA:293987
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypoglycemia, Hypothermia, Aggressive behavior, Flexion contracture, Failure to thrive ORPHA:17
Orthostatic Hypotension 1
Intermittent hypothermia, Neonatal hypoglycemia OMIM:223360
Isolated Thyroid-Stimulating Hormone Deficiency
Umbilical hernia, Failure to thrive, Hypothermia, Attention deficit hyperactivity disorder ORPHA:90674
Congenital Enterovirus Infection
Fever, Hypothermia ORPHA:292
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Failure to thrive, Hypothermia, Dysphagia ORPHA:255210
Genetic Transient Congenital Hypothyroidism
Umbilical hernia, Hypothermia ORPHA:226316
Menkes Disease
Inguinal hernia, Hypoglycemia, Hypothermia, Atypical scarring of skin, Hernia, Umbilical hernia, ... ORPHA:565
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Hypoglycemia, Hypothermia ORPHA:79282
Ethylene Glycol Poisoning
Cyanosis, Addictive alcohol use, Hypothermia ORPHA:31826
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Flexion contracture, Hypothermia, Dysphagia ORPHA:99027
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Tongue thrusting, Intermittent hypothermia OMIM:608643
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Umbilical hernia, Hypoglycemia, Hypothermia ORPHA:226307
Hypothyroidism Due To Tsh Receptor Mutations
Umbilical hernia, Hypothermia ORPHA:90673
Neuroleptic Malignant Syndrome
Fever, Agitation, Hypothermia, Dysphagia ORPHA:94093
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Fasciitis, Unexplained fevers, Impulsivity, Hypothermia, Corneal scar... ORPHA:642
Tbck-Related Intellectual Disability Syndrome
Hypothermia ORPHA:488632
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Atypical scarring of skin,... ORPHA:198
Marburg Hemorrhagic Fever
Fever, Hypoglycemia, Hypothermia, Anorexia, Aggressive behavior ORPHA:99826
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia, Hypothermia OMIM:218700
Sarcoidosis
Fever, Scarring, Hypothermia, Weight loss ORPHA:797
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Hypothermia, Stereotypical hand wringing, Dysphagia 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 Impact

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 Impact.

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

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MGI Allele Allele Type Produced
Impacttm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Impacttm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Impacttm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Impacttm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Impactem1(IMPC)Ccpcz Exon Deletion Mice

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