Gene: 1700016H13Rik MGI:1921468

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Gene Summary

Name:
RIKEN cDNA 1700016H13 gene
Synonyms:
N/A

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 body temperature 1700016H13Rikem1(IMPC)Bay HOM Early adult 7.84×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by 1700016H13Rik 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 1700016H13Rik by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Primary Erythromelalgia
Hypothermia ORPHA:90026
Riboflavin Deficiency
Hypothermia OMIM:615026
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Periodic Fever, Menstrual Cycle-Dependent
Fever OMIM:614674
Idiopathic Congenital Hypothyroidism
Hypothermia ORPHA:95717
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Meningococcal Meningitis
Fever, Hypothermia ORPHA:33475
Menkes Disease
Hypothermia OMIM:309400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia ORPHA:226313
Timothy Syndrome
Hypothermia OMIM:601005
Familial Thyroid Dyshormonogenesis
Hypothermia ORPHA:95716
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia OMIM:618493
N-Acetylglutamate Synthase Deficiency
Hypothermia OMIM:237310
Malignant Hyperthermia, Susceptibility To, 5
Malignant hyperthermia, Fever OMIM:601887
Congenital Enterovirus Infection
Fever, Hypothermia ORPHA:292
Sepsis In Premature Infants
Fever, Temperature instability, Hypothermia ORPHA:90051
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia OMIM:618775
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia ORPHA:159
Genetic Transient Congenital Hypothyroidism
Hypothermia ORPHA:226316
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia ORPHA:26793
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Hypothermia ORPHA:20
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia OMIM:618329
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia ORPHA:90673
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia OMIM:251880
Dopamine Beta-Hydroxylase Deficiency
Hypothermia ORPHA:230
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Temperature instability OMIM:608643
Tbck-Related Intellectual Disability Syndrome
Hypothermia ORPHA:488632
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Hypothermia ORPHA:99027
Alexander Disease
Hypothermia ORPHA:58
Neuroleptic Malignant Syndrome
Fever, Hypothermia ORPHA:94093
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Hypothermia ORPHA:255210
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia ORPHA:90674
Ethylene Glycol Poisoning
Hypothermia ORPHA:31826
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia ORPHA:17
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia ORPHA:79282
Menkes Disease
Hypothermia ORPHA:565
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia OMIM:218700
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia ORPHA:226307
Occipital Horn Syndrome
Hypothermia ORPHA:198
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Hypothermia ORPHA:293987
Marburg Hemorrhagic Fever
Fever, Hypothermia ORPHA:99826
Hereditary Sensory And Autonomic Neuropathy Type 4
Unexplained fevers, Hypothermia, Recurrent fever ORPHA:642
Sarcoidosis
Fever, Hypothermia ORPHA:797
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia 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 1700016H13Rik

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 1700016H13Rik.

No publications found that use IMPC mice or data for 1700016H13Rik.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
1700016H13Riktm47388(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
1700016H13Rikem1(IMPC)Bay Exon Deletion Mice
1700016H13Riktm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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