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 circulating triglyceride level D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 5.55×10-05
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 exploration in new environment D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 1.20×10-05
decreased total body fat amount D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 4.79×10-05
increased fasting circulating glucose level D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 2.11×10-05

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.

X-ray

XRay Images Hind Leg and Hip

16 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

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

Eye Morphology

Images Slit Lamp

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 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
Atypical scarring of skin, Type II diabetes mellitus, Hyperinsulinemia 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
Wolfram-Like Syndrome, Autosomal Dominant
Anxiety, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:608600
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... OMIM:612526
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes melli... OMIM:604367
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia OMIM:145750
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Anxiety OMIM:618970
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture OMIM:618856
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Glycosuria, Ketotic hypoglycemia, Irritability, Postprandial hyperglycemia ORPHA:2089
Obesity Due To Sim1 Deficiency
Glucose intolerance, Memory impairment, Hyperinsulinemia, Cognitive impairment ORPHA:369873
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:151660
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, In... OMIM:248370
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia OMIM:602450
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Meige Disease
Cellulitis, Atypical scarring of skin, Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Cognitive impairment, Progressive neurologic deterioration, Hypercholesterolemia, ... ORPHA:90065
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level OMIM:615954
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Hypoglycemia, Diabetes mellitus, Reduced subcutaneous adipose tissue OMIM:609069
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Insulin-resistant diabetes m... ORPHA:2298
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Retinitis Pigmentosa
Atypical scarring of skin, Type II diabetes mellitus, Hyperinsulinemia 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.

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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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