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Gene: Mafa MGI:2673307

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

MAF bZIP transcription factor A

Synonyms:

RIPE3b1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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 Mafa 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.

Human diseases associated with Mafa (1 diseases)
Human diseases predicted to be associated with Mafa (215 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Insulinomatosis And Diabetes Mellitus		Impaired glucose tolerance, Multiple pancreatic beta-cell adenomas, Insulinoma, Type II diabetes ...	OMIM:147630

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

Disease	Matching phenotypes	Source
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Type 1 Diabetes Mellitus 15	Diabetes mellitus, Type I diabetes mellitus	OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
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
Acid-Labile Subunit Deficiency	Delayed puberty, Insulin insensitivity, Decreased serum insulin-like growth factor 1, Mild postna...	OMIM:615961
Maturity-Onset Diabetes Of The Young, Type 1	Maturity-onset diabetes of the young	OMIM:125850
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Maturity-Onset Diabetes Of The Young, Type 10	Diabetes mellitus, Intrauterine growth retardation, Hyperglycemia, Maturity-onset diabetes of the...	OMIM:613370
Familial Renal Glucosuria	Recurrent urinary tract infections, Enuresis, Abnormal circulating insulin concentration, Glycosu...	ORPHA:69076
Hyperinsulinemic Hypoglycemia, Familial, 7	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo...	OMIM:610021
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Glycosuria, Beta 2-microglobulinu...	OMIM:308990
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Mody	Pancreatic hypoplasia, Neonatal hypoglycemia, Abnormality of the kidney, Abnormal circulating ins...	ORPHA:552
Glucoglycinuria	Glycosuria, Hyperglycinuria	OMIM:138070
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Pituitary Hormone Deficiency, Combined, 4	Impaired growth-hormone response to insulin stimulation test, Severe postnatal growth retardation...	OMIM:262700
Cataract 47	Glycosuria	OMIM:612018
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Ketonuria, Type I diabetes mellitus, Glycosuria	OMIM:618857
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Abnormality of the kidney, Hypothyroidism, Intrauterine growth retardation, Hy...	ORPHA:99886
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Postprandial hyperglycemia, Short stature, Ketonuria, Ketotic hypoglycemia	ORPHA:2089
Fanconi Renotubular Syndrome 3	Glycosuria, Short stature, Aminoaciduria, Growth delay, Hyperphosphaturia, Low-molecular-weight p...	OMIM:615605
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Multiple pancreatic beta-cell adenomas, Insulinoma, Type II diabetes ...	OMIM:147630
RCAD (renal cysts and diabetes)	Diabetes mellitus, Multiple renal cysts, Abnormality of the liver	DECIPHER:47
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Interstitial Nephritis, Karyomegalic	Renal interstitial fibrosis, Proteinuria, Renal tubular cyst, Stage 5 chronic kidney disease, Tub...	OMIM:614817
Type 2 Diabetes Mellitus	Type II diabetes mellitus, Insulin resistance	OMIM:125853
Renal Glucosuria	Enuresis nocturna, Polyuria, Glycosuria	OMIM:233100
Diabetes Mellitus, Transient Neonatal, 1	Hyperglycemia, Transient neonatal diabetes mellitus, Intrauterine growth retardation	OMIM:601410
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Proteinuria, Nephrocalcinosis, Glycosuria, Diabetes mellitus, Hepatomegaly, Short stature, Aminoa...	OMIM:616026
Fanconi Renotubular Syndrome 2	Proteinuria, Decreased glomerular filtration rate, Glycosuria, Renal phosphate wasting, Elevated ...	OMIM:613388
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia, Abnormal circulating insulin concentration, Short stature, Elevated circula...	ORPHA:171706
Hyperinsulinism Due To Insr Deficiency	Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin resistan...	ORPHA:263458
Glucose/Galactose Malabsorption	Abnormal oral glucose tolerance, Glycosuria	OMIM:606824
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Hepatocellular carcinoma, Impaired glucose tolerance, Nephrocalcinosis, Gly...	ORPHA:2088
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Fasting hypoglycemia, Proteinuria, Neonatal hypoglycemia, Glycosuria, Renal Fanconi syndrome, Pan...	ORPHA:263455
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Fanconi Renotubular Syndrome 1	Glycosuria, Renal insufficiency, Short stature, Renal tubular dysfunction, Impaired renal tubular...	OMIM:134600
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Glycogen Storage Disease 0, Liver	Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia	OMIM:240600
Congenital Glucokinase-Related Hyperinsulinism	Recurrent hypoglycemia, Fasting hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Essential Fructosuria	Hyperglycemia, Abnormal urine carbohydrate level	ORPHA:2056
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Central hypothyroidism, Decreased circulating follicle stimulating hor...	ORPHA:453533
Diabetes Mellitus, Ketosis-Prone	Diabetes mellitus, Beta-cell dysfunction, Insulin resistance	OMIM:612227
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Jaundice, Cholestatic liver disease, Nephrocalcinosis, Glycosuria, Nephrogenic diabe...	OMIM:613404
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Tubulointerstitial fibrosis	OMIM:618913
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin-resistant diab...	ORPHA:2298
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Proteinuria, Glycosuria, Intrahepatic cholestasis, Postprandial hyperglycem...	OMIM:227810
Dent Disease 1	Microscopic hematuria, Nephrocalcinosis, Chronic kidney disease, Renal phosphate wasting, Stage 5...	OMIM:300009
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Generalized aminoaciduria, Renal tubular dysfunction, Hyperinsulinemia	OMIM:606528
Renal Hypoplasia, Bilateral	Microscopic hematuria, Proteinuria, Cryptorchidism, Glycosuria, Chronic kidney disease, Beta 2-mi...	ORPHA:97362
Seckel Syndrome 10	Impaired glucose tolerance, Severe short stature, Glycosuria, Diabetes mellitus, Elevated circula...	OMIM:617253
Familial Partial Lipodystrophy, Köbberling Type	Diabetes mellitus, Pancreatitis, Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Hepatic stea...	ORPHA:79084
Glycogen Storage Disease Vi	Postnatal growth retardation, Hepatomegaly, Hypoglycemia, Increased hepatic glycogen content	OMIM:232700
Insulin Autoimmune Syndrome	Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin...	ORPHA:411593
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Hyperglycemia, Type I diabetes mellitus, Intrauterine growth retardation	OMIM:606176
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Reactive hypoglycemia, Increased urine alpha-ketoglutarate concentratio...	ORPHA:35878
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Abnormal renal morphology, Proteinuria, Abnormality of the kidney, Impaire...	OMIM:137920
Multiple Acyl-Coa Dehydrogenase Deficiency	Polycystic kidney dysplasia, Renal cortical cysts, Jaundice, Glycosuria, Hepatomegaly, Glutaric a...	OMIM:231680
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young	OMIM:609812
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypothyroidism, Short stature, Hypoglycemic seizures, Hyperinsulinemia, Elevated circulating thyr...	OMIM:620211
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Glycosuria, Moderate albumin...	ORPHA:99885
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Primary Fanconi Renotubular Syndrome	Proximal renal tubular acidosis, Stage 5 chronic kidney disease, Chronic kidney disease, Renal ph...	ORPHA:3337
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Short stature, Hyperinsulinemia	ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Fasting hypoglycemia, Maternal diabetes, Excessive insulin response to glucagon test, Abnormal or...	ORPHA:276580
Dent Disease	Proteinuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal phosphate was...	ORPHA:1652
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Fasting hypoglycemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperinsulinemia,...	ORPHA:276608
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Fasting hypoglycemia, Postprandial hyperglycemia, Short stature, Hyperinsulinemia, Hyperglycemia,...	OMIM:262190
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Hyperinsulinism Due To Hnf1A Deficiency	Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Excessive insulin response to glu...	ORPHA:324575
Wolfram-Like Syndrome	Delayed puberty, Severe postnatal growth retardation, Diabetes mellitus, Primary gonadal insuffic...	ORPHA:411590
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cort...	OMIM:600955
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Maternal diabetes, Hyperglycemia, Maturity-onset diabetes of the young	OMIM:616329
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Fasting hypoglycemia, Excessive insulin response to glucagon test, Hepatomegaly, Episodic hyperhi...	ORPHA:276575
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Proteinuria, Diffuse hepatic steatosis, Glycosuria, Renal Fanconi syndrome, Hepatomegaly, Renal t...	ORPHA:436271
Mahvash Disease	Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent...	OMIM:619290
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis	OMIM:618858
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet...	ORPHA:79644
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone...	ORPHA:71526
Proximal Renal Tubular Acidosis	Nephrocalcinosis, Hypernatriuria, Glycosuria, Hyperuricosuria, Bicarbonaturia, Short stature, Hyp...	ORPHA:47159
Type 1 Diabetes Mellitus	Diabetes mellitus, Polyuria, Hyperglycemia	OMIM:222100
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Proteinuria, Glycosuria, Renal Fanconi syndrome, Hepatomegaly, Renal tubular dysfunction, Increas...	OMIM:220110
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus	OMIM:610582
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Bangstad Syndrome	Polycystic ovaries, Abnormality of the parathyroid gland, Increased circulating cortisol level, I...	ORPHA:1227
Juvenile Nephropathic Cystinosis	Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Renal...	ORPHA:411634
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus	OMIM:618856
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Neonatal hypoglycemia, Abnormal circulating insulin concentration, Nonketotic hypoglycemia, Hypog...	ORPHA:293964
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus	OMIM:610947
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia	OMIM:620195
Cystinosis, Nephropathic	Delayed puberty, Diabetes mellitus, Hepatomegaly, Male hypogonadism, Proteinuria, Renal Fanconi s...	OMIM:219800
Estrogen Resistance	Delayed puberty, Impaired glucose tolerance, Increased circulating osteocalcin level, Polycystic ...	OMIM:615363
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short stature, Hyperinsulinemia, Splenomegaly	ORPHA:66518
Myasthenia Gravis	Glycosuria, Hashimoto thyroiditis, Hyperthyroidism, Hepatitis, Abnormality of the thymus, Primary...	ORPHA:589
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Diabetes mellitus, Short stature, Delayed thelarche, Hyperinsulinemic hypoglycemia	OMIM:616033
Bdv Syndrome	Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati...	OMIM:619326
Infantile Nephropathic Cystinosis	Abnormal tubulointerstitial morphology, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunc...	ORPHA:411629
Fructose Intolerance, Hereditary	Proximal renal tubular acidosis, Jaundice, Transient aminoaciduria, Glycosuria, Hyperuricosuria, ...	OMIM:229600
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance	OMIM:145750
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Polycystic ovaries, Hyperinsulinemia, Cirrhosis, Hyperglycemia, Type II diabet...	OMIM:604367
Plin1-Related Familial Partial Lipodystrophy	Polycystic ovaries, Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Abnormal circulating h...	ORPHA:280356
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Glycosuria, Cirrhosis, Renal tubular dysfunction, Glucose intolerance, Exocrine pancreatic insuff...	OMIM:616539
Lipodystrophy, Familial Partial, Type 1	Hyperglycemia, Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus	OMIM:608600
Obesity Due To Melanocortin 4 Receptor Deficiency	Type II diabetes mellitus, Hyperinsulinemia	ORPHA:71529
Hyperinsulinism Due To Ucp2 Deficiency	Excessive insulin response to glucagon test, Recurrent hypoglycemia, Reactive hypoglycemia, Hepat...	ORPHA:276556
Pearson Syndrome	Proteinuria, Hypoplastic spleen, Glycosuria, Renal cyst, Diabetes mellitus, Hypoparathyroidism, R...	ORPHA:699
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Glycogen Storage Disease Ixc	Fasting hypoglycemia, Bile duct proliferation, Hepatomegaly, Cirrhosis, Growth delay, Postnatal g...	OMIM:613027
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Short Stature, Dauber-Argente Type	Postnatal growth retardation, Fasting hyperinsulinemia, Short stature	OMIM:619489
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit...	OMIM:615925
Donohue Syndrome	Fasting hypoglycemia, Postprandial hyperglycemia, Cholestasis, Pancreatic islet-cell hyperplasia,...	OMIM:246200
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Decreased circulating ACTH level, Hyperglycemia, Macronodul...	OMIM:615954
Obesity Due To Sim1 Deficiency	Glucose intolerance, Short stature, Hyperinsulinemia	ORPHA:369873
Insulinoma	Pituitary prolactin cell adenoma, Recurrent hypoglycemia, Fasting hyperinsulinemia, Reactive hypo...	ORPHA:97279
Wilson Disease	Hepatocellular carcinoma, Proteinuria, Jaundice, Atypical or prolonged hepatitis, Glycosuria, Hyp...	OMIM:277900
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Anterior pituitary hypoplasia, Central hypothyroidism, Short stature, ...	OMIM:616113
Mitchell-Riley Syndrome	Pancreatic hypoplasia, Diabetes mellitus, Cholestasis, Intrauterine growth retardation, Hyperglyc...	OMIM:615710
Solitary Fibrous Tumor	Abnormality of the peritoneum, Urinary retention, Neoplasm of the liver, Recurrent hypoglycemia, ...	ORPHA:2126
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Cryptorchidism, Polycystic ovaries, Short stature, Hyperinsulinemia, H...	ORPHA:3085
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Obesity Due To Congenital Leptin Deficiency	Hypoplasia of the ovary, Decreased testicular size, Hyperinsulinemia, Hypergonadotropic hypogonad...	ORPHA:66628
Hemochromatosis, Type 4	Impaired glucose tolerance, Diabetes mellitus, Hepatomegaly, Cirrhosis, Glucose intolerance, Hepa...	OMIM:606069
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Pancreatic Agenesis 1	Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Intrauterine growth retardat...	OMIM:260370
Obesity Due To Leptin Receptor Gene Deficiency	Hypoplasia of the ovary, Decreased testicular size, Hyperinsulinemia, Hypergonadotropic hypogonad...	ORPHA:179494
Heart Defects, Congenital, And Other Congenital Anomalies	Pancreatic hypoplasia, Glycosuria, Diabetes mellitus, Intrauterine growth retardation, Hyperglyce...	OMIM:600001
Dietary Iron Overload Disease	Peritonitis, Hepatocellular carcinoma, Diabetes mellitus, Hepatic bridging fibrosis, Increased ci...	ORPHA:139507
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Hypoplasia of penis, Type II diabetes mellitus, Abnormal testis m...	ORPHA:791
Pancreatic Agenesis 2	Diabetes mellitus, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Tropical Pancreatitis	Maternal diabetes, Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreati...	ORPHA:103918
Pancreatitis, Hereditary	Pancreatic calcification, Diabetes mellitus, Pancreatitis, Pancreatic pseudocyst, Exocrine pancre...	OMIM:167800
Perlman Syndrome	Cryptorchidism, Hepatomegaly, Hyperinsulinemia, Hypoplasia of penis, Abnormal pancreas morphology...	ORPHA:2849
Atypical Werner Syndrome	Neoplasm of the thyroid gland, Delayed puberty, Renal neoplasm, Glycosuria, Hypogonadism, Diabete...	ORPHA:79474
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Glucose intolerance, Short stature	OMIM:309620
Tropical Calcific Pancreatitis	Chronic pancreatitis, Insulin-dependent but ketosis-resistant diabetes, Neoplasm of the pancreas,...	OMIM:608189
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Delayed puberty, Short stature, Thyroiditis, Postnatal growth retardation, Decreased serum insuli...	OMIM:618985
Galactokinase Deficiency	Hepatosplenomegaly, Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased lev...	ORPHA:79237
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Estrogen Resistance Syndrome	Breast hypoplasia, Hyperinsulinemia, Glucose intolerance, Increased circulating gonadotropin leve...	ORPHA:785
Scorpion Envenomation	Acute kidney injury, Glycosuria, Hyperglycemia, Acute pancreatitis, Ketonuria, Hyperhidrosis	ORPHA:466677
Paroxysmal Nocturnal Hemoglobinuria	Proteinuria, Acute kidney injury, Jaundice, Glycosuria, Chronic kidney disease, Renal Fanconi syn...	ORPHA:447
Multiple Endocrine Neoplasia Type 4	Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin...	ORPHA:276152
Tenorio Syndrome	Enuresis, Hypoinsulinemia, Hypoglycemia	OMIM:616260
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Ketonuria, Hypoglycemia, Growth delay	OMIM:615453
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Intrauterine growth retardation, Hypergonadotropic hypogonadism	OMIM:619737
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Severe postnatal growth retardation, Postprandial hyperglycemia, Chole...	ORPHA:440713
X-Linked Acrogigantism	Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, Abnormality ...	ORPHA:300373
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Cirrhosis, Hyperinsulinemia, Hepatic steatosis, Insulin resistance	ORPHA:363400
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Diabetes mellitus, Severe intrauterine growth retardation, Hyperglycemia, ...	OMIM:609069
Rabson-Mendenhall Syndrome	Fasting hypoglycemia, Increased serum testosterone level, Impaired glucose tolerance, Nephrocalci...	ORPHA:769
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Neonatal hypoglycemia, Fasting hyperinsulinemia, Intrauterine growth retardation, Hypoglycemic se...	ORPHA:71212
Acquired Generalized Lipodystrophy	Proteinuria, Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Cirrhosis, Acute pancreatitis, H...	ORPHA:79086
Cole Disease	Hyperglycemia	OMIM:615522
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia, Cryptorchidism, Hypospadias	OMIM:175700
Late-Onset Familial Hypoaldosteronism	Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ...	ORPHA:556037
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatocellular carcinoma, Testicular atrophy, Diabetes mellitus, Hepatomegaly, Cirrhosis, Cholang...	ORPHA:465508
Mandibuloacral Dysplasia With Type B Lipodystrophy	Stage 5 chronic kidney disease, Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Growth dela...	OMIM:608612
Mpi-Cdg	Hepatic fibrosis, Hepatomegaly, Portal hypertension, Hyperinsulinemic hypoglycemia, Hypothyroidism	ORPHA:79319
Bardet-Biedl Syndrome 9	Hyperglycemia, Renal insufficiency	OMIM:615986
Alstrom Syndrome	Tubulointerstitial nephritis, Chronic active hepatitis, Multinodular goiter, Renal insufficiency,...	OMIM:203800
Early-Onset Familial Hypoaldosteronism	Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ...	ORPHA:556030
Congenital Generalized Lipodystrophy	Diabetes mellitus, Polycystic ovaries, Precocious puberty in females, Hepatomegaly, Hyperinsuline...	ORPHA:528
Short Syndrome	Intrauterine growth retardation, Birth length less than 3rd percentile, Hyperglycemia, Glucose in...	OMIM:269880
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Adrenocortical adenoma	ORPHA:681
Mandibuloacral Dysplasia	Hyperinsulinemia, Glucose intolerance, Insulin resistance, Postnatal growth retardation, Insulin-...	ORPHA:2457
Lipodystrophy, Familial Partial, Type 2	Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Acute pancreatitis, Type II di...	OMIM:151660
Glycogen Storage Disease Ib	Hepatocellular carcinoma, Delayed puberty, Proteinuria, Enlarged kidney, Decreased glomerular fil...	OMIM:232220
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus	OMIM:615812
Mandibuloacral Dysplasia With Type A Lipodystrophy	Impaired glucose tolerance, Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Growth delay, Postnata...	OMIM:248370
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Proximal tubulopathy, Hyperinsulinemic hyp...	OMIM:602579
Posterior Urethral Valve	Recurrent urinary tract infections, Enuresis nocturna, Unilateral renal dysplasia, Hydronephrosis...	ORPHA:93110
Leprechaunism	Fasting hypoglycemia, Hyperaldosteronism, Nephrocalcinosis, Enlarged kidney, Central hypothyroidi...	ORPHA:508
Necrotizing Enterocolitis	Hyperglycemia, Abnormal glucose homeostasis, Peritonitis	ORPHA:391673
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Elevated urinary dopamine, Insulin resistance, Nocturia, Hypoglycemia	ORPHA:230
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gallbladder, Intraute...	OMIM:601346
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia, Hypopituitarism, Hypothyroidism	ORPHA:90065
Renal-Hepatic-Pancreatic Dysplasia 1	Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Hepatomegaly, Polysplenia, H...	OMIM:208540
Beta-Ketothiolase Deficiency	Hyperglycemia, Ketonuria, Hepatomegaly, Hypoglycemia	ORPHA:134
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased testicular size, Micropenis, Hypogonadism, Hypothyroidism, Decreased r...	ORPHA:3464
Lipodystrophy, Congenital Generalized, Type 1	Diabetes mellitus, Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Cirrhosis, Acute pancreati...	OMIM:608594
Dend Syndrome	Hyperglycemia	ORPHA:79134
Lipodystrophy, Congenital Generalized, Type 2	Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Cirrhosis, Acute pancreatitis, Nephrolithiasi...	OMIM:269700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cholangitis, Tubulointerstitial nephritis, Cholestasis, Recurrent hypoglycemia, Periportal fibros...	OMIM:124000
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hyperinsulinemia, Hepatic steatosis, Insulin resistance, Splenomegaly	OMIM:613327
Aceruloplasminemia	Diabetes mellitus, Hepatic fibrosis, Cirrhosis, Abnormal pancreas morphology, Elevated hepatic ir...	ORPHA:48818
Prader-Willi Syndrome	Delayed puberty, Cryptorchidism, Micropenis, Intrauterine growth retardation, Short stature, Hype...	OMIM:176270
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hyperglycemia, Growth delay, Lacticaciduria, Hypoglycemia	ORPHA:3008
Thyrotoxic Periodic Paralysis	Graves disease, Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with toxic single t...	ORPHA:79102
Igg4-Related Submandibular Gland Disease	Cholangitis, Abnormality of the kidney, Abnormality of the submandibular glands, Abnormality of t...	ORPHA:449432
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Enuresis, Delayed puberty, Hypohidrosis, Increased circulating prolactin concentration, Central h...	ORPHA:293987
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Enlarged kidney, Multiple renal cysts, Hepatomegaly, Hypothyroidism, Nephr...	ORPHA:116
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Horseshoe kidney, Abnormality of the ovary, Hyperinsulinemia, Growth delay, Hash...	ORPHA:99413
Turner Syndrome	Delayed puberty, Horseshoe kidney, Abnormality of the ovary, Hyperinsulinemia, Growth delay, Hash...	ORPHA:881
Mosaic Monosomy X	Delayed puberty, Horseshoe kidney, Abnormality of the ovary, Hyperinsulinemia, Growth delay, Hash...	ORPHA:99228
Monosomy X	Delayed puberty, Horseshoe kidney, Abnormality of the ovary, Hyperinsulinemia, Growth delay, Hash...	ORPHA:99226
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Horseshoe kidney, Short stature, Decreased response to growth hormone stimulation test, Hyperglyc...	ORPHA:444077
Steinert Myotonic Dystrophy	Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, Di...	ORPHA:273
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Increased hepatocellular lipid droplets, Hyperglycemia, Ketonuria, Microvesicular hepatic steatos...	OMIM:220111
Alström Syndrome	Urinary retention, Hepatomegaly, Hyperinsulinemia, Puberty and gonadal disorders, Elevated circul...	ORPHA:64
Pmm2-Cdg	Proteinuria, Elevated circulating growth hormone concentration, Decreased testicular size, Increa...	ORPHA:79318

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 Mafa

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 Mafa.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Mafa^{tm388265(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Mafa^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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