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 5.50×10-05
enlarged lymph nodes D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 0.00
increased fasting circulating glucose level D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 2.11×10-05
decreased locomotor activity D630045J12Riktm1b(KOMP)Wtsi HOM   Early adult 5.09×10-07
decreased exploration in new environment D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 7.68×10-06
improved glucose tolerance D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 2.20×10-12
decreased total body fat amount D630045J12Riktm1b(KOMP)Wtsi HOM Early adult 2.61×10-05

Download data as:  TSV  XLS

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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 Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

9 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Eye Morphology

Images Slit Lamp

4 Images

X-ray

XRay Images Hind Leg and Hip

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, 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, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Ataxia, Anxiety, Hyperglycemia OMIM:618970
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Splenomegaly, Hepatosplenomegaly, Generalized lipodystrophy,... OMIM:612526
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... OMIM:604367
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Irritability, Ketotic hypoglycemia, Glycosuria, Lethargy ORPHA:2089
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance OMIM:145750
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Flexion contracture, Hyperglycemia OMIM:618856
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Type II diabetes mellitus, Hyperglycemia OMIM:520000
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Athetosis OMIM:618857
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperlipidemia, Hy... OMIM:248370
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... ORPHA:552
Meige Disease
Lymph node hypoplasia, Atypical scarring of skin, Cellulitis, Absence of lymph node germinal center ORPHA:90186
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Splenomegaly, Generalized lymphadenopathy, Lymph node hypoplasia, Absent t... OMIM:602450
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Progressive neurologic deterioration, Memory impairment, Hypercholesterolem... ORPHA:90065
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Ataxia, Splenomegaly OMIM:613179
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... ORPHA:2298
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Hypoglycemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level OMIM:615954
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
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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