Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
rabphilin 3A-like (without C2 domains)
Synonyms:
LOC385671,  Noc2,  6530413F01Rik

IMPC Data Collections

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

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.

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.

Phenotype associated images not available

Human diseases caused by Rph3al 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 Rph3al by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures OMIM:256450
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Macroglossia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Mater... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma OMIM:142330
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Mahvash Disease
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... OMIM:619290
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacido... OMIM:262190
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance OMIM:610947
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Chole... OMIM:615710
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Insulin resistance, Cirrhosis, Maternal diabetes, In... OMIM:604367
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... OMIM:615954
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Diabetes mel... OMIM:167800
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Ovarian cyst, Cholestasis, Panc... OMIM:246200
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Hyperinsulin... ORPHA:2298
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carc... ORPHA:2088
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Decreased serum testosterone concentration,... ORPHA:465508
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Hyperglycemia OMIM:619737
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Short Syndrome
Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:269880
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Acute pancreatitis, Insulin-resistant ... OMIM:151660
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypergly... OMIM:608612
Rabson-Mendenhall Syndrome
High palate, Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, ... ORPHA:769
Necrotizing Enterocolitis
Peritonitis, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreat... ORPHA:99885
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hypopituitarism, Hyperglycemia ORPHA:90065
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Steatorrhea, Cholestasis, Hepatitis, Porta... ORPHA:440713
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Hyperinsulinemia, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabet... OMIM:248370
Dend Syndrome
Hyperglycemia ORPHA:79134
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:134
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Biliary atresia, Intestinal malrotation, Glycosuria, Pancreatic hypoplasia, Ab... OMIM:600001
Leprechaunism
Postprandial hyperglycemia, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Increased circula... ORPHA:508
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Hyperthyroidism, Hyperhidrosis, Thyrotoxicosis with t... ORPHA:79102
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Ab... ORPHA:293987
Atypical Werner Syndrome
Type II diabetes mellitus, Ovarian neoplasm, Hyperinsulinemia, Glycosuria, Hypogonadism, Fasting ... ORPHA:79474
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:3008
Scorpion Envenomation
Acute pancreatitis, Glycosuria, Hyperhidrosis, Hyperglycemia ORPHA:466677
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
High palate, Decreased response to growth hormone stimulation test, Macroglossia, Glossoptosis, H... ORPHA:444077

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 Rph3al

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 Rph3al.

No publications found that use IMPC mice or data for Rph3al.

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MGI Allele Allele Type Produced
Rph3altm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rph3altm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rph3altm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rph3altm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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