Gene: D630045J12Rik MGI:2669829

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Gene Summary

Name:
RIKEN cDNA D630045J12 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 total body fat amount D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 2.60×10-05
increased fasting circulating glucose level D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 2.11×10-05
decreased grip strength D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 8.51×10-05
decreased circulating triglyceride level D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 5.07×10-05
improved glucose tolerance D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 2.20×10-12
enlarged lymph nodes D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 0.00
decreased locomotor activity D630045J12Riktm1b(KOMP)Wtsi HOM   Early adult 4.90×10-07
decreased exploration in new environment D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 2.06×10-05

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

Images Slit Lamp

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

X-ray

XRay Images Hind Leg and Hip

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Eye Morphology

Images Ophthalmoscopy

9 Images

Gross Pathology and Tissue Collection

Images

8 Images

Histopathology

Images

3 Images

Human diseases caused by D630045J12Rik 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.

The table below shows human diseases associated to D630045J12Rik by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Retinitis Pigmentosa 86
OMIM:618613

The table below shows human diseases predicted to be associated to D630045J12Rik by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue aroun... OMIM:608600
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneous adipose t... OMIM:604367
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Irritability, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Lethargy, Postprandial hyperglycemia ORPHA:2089
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hyperglycemia, Transien... ORPHA:99886
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Hyperinsulinemia, Increased intramuscular fat, Loss of truncal subcutaneous... OMIM:151660
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Loss o... ORPHA:2457
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Hyperglycemia, Gait disturbance OMIM:604484
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Athetosis, Hyperglycemia OMIM:618857
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Glycosuria, Hyperglycemia, Transient neonatal diabetes me... ORPHA:552
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Hyperglycemia, Increased circulating cortisol level OMIM:615954
Meige Disease
Atypical scarring of skin, Cellulitis, Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, ... OMIM:248370
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... OMIM:602450
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Hypercholesterolemia, Hyperglycemia, Type II diabetes mellitus OMIM:615812
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Lymph node hypoplasia, Splenomegaly OMIM:613179
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Retinitis Pigmentosa 86
OMIM:618613

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 D630045J12Rik

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 D630045J12Rik.

No publications found that use IMPC mice or data for D630045J12Rik.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
D630045J12Riktm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
D630045J12Riktm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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