Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
v-maf musculoaponeurotic fibrosarcoma oncogene family, protein A (avian)
Synonyms:
RIPE3b1

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 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.

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
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
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
Acid-Labile Subunit Deficiency
Mild postnatal growth retardation, Delayed puberty, Decreased serum insulin-like growth factor 1,... OMIM:615961
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Familial Renal Glucosuria
Glycosuria, Renal tubular dysfunction, Moderate postnatal growth retardation, Recurrent urinary t... ORPHA:69076
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Intrauterine growth retardation, Diabetes mellitus, Maturity-onset diabete... OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mody
Exocrine pancreatic insufficiency, Glycosuria, Renal cyst, Neonatal hypoglycemia, Intrauterine gr... ORPHA:552
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Increased hepatic glycogen... ORPHA:293964
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Intrauterine growth retardation, Abnormality of the kidney... ORPHA:99886
Fanconi Renotubular Syndrome 3
Glycosuria, Proteinuria, Growth delay, Hyperphosphaturia, Aminoaciduria, Short stature OMIM:615605
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Severe postnatal growth retardation, Pituita... OMIM:262700
Cataract 47
Glycosuria OMIM:612018
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Growth delay... ORPHA:171706
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Ketonuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Ketonuria, Short stature, Postprandial hyperglycemia ORPHA:2089
Fanconi Renotubular Syndrome 2
Glycosuria, Generalized aminoaciduria, Hypercalciuria, Proximal tubulopathy, Short stature, Renal... OMIM:613388
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts DECIPHER:47
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Hematuria, Proteinuria, Tubulointerstitial nephritis, Stage 5 chron... OMIM:614817
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Severe short stature, Pituitary dwarfism, Decreased response to growth hormone stim... OMIM:262400
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Nephrocalcinosis, Hypoglycemia, Proteinuria, Hepatomegaly, Hyperphosphaturia, Aminoac... OMIM:616026
Fanconi-Bickel Syndrome
Glycosuria, Generalized aminoaciduria, Renal tubular acidosis, Fasting hypoglycemia, Nephrocalcin... ORPHA:2088
Fanconi Renotubular Syndrome 1
Glycosuria, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Short stature,... OMIM:134600
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Renal Fanconi syndrome, Hyperinsulinemia... ORPHA:263455
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Glucose/Galactose Malabsorption
Glycosuria, Abnormal oral glucose tolerance OMIM:606824
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Central hypothyroidism, Short stature, Postnatal growth retardation, Hypogonadism OMIM:616113
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Proteinuria, Postprandial hyperglycemia, Abnormal oral glucose tol... ORPHA:2298
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Tubulointerstitial fibrosis, Aminoaciduria, Stage 5 chronic kidney disease OMIM:618913
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hypoglycemia, Renal tubular dysfunction, Hyperinsulinemia OMIM:606528
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Glycogen Storage Disease Vi
Postnatal growth retardation, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly OMIM:232700
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Hepatic steatosis, Hypoglycemia, Renal cortical cysts, Pro... OMIM:231680
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepatomegaly, Diabet... ORPHA:79084
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Unilateral renal agenesis, Stage 5 chronic kidney ... OMIM:137920
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Renal tubular dysfunction, Moderate albuminuria, Intrauterine growth retardation, Pan... ORPHA:99885
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Hepatomegaly... OMIM:277900
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hyp... ORPHA:35878
Seckel Syndrome 10
Glycosuria, Hepatic steatosis, Acute pancreatitis, Insulin resistance, Severe short stature, Elev... OMIM:617253
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Diabetes Mellitus, Permanent Neonatal, 1
Intrauterine growth retardation, Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypoglycemia, Hyperuricosuria, Hypercalciuria, Bicarbonatu... ORPHA:3337
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Excessive insulin response to... ORPHA:324575
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Long penis, Insulin-... OMIM:262190
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Pancreatic hypoplasia, Neonat... OMIM:260370
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Increased hepatocellular lipid droplets, Renal Fanconi syndrome, Renal tubular dysfun... OMIM:220110
Wolfram-Like Syndrome
Central diabetes insipidus, Primary gonadal insufficiency, Hypothyroidism, Severe postnatal growt... ORPHA:411590
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Type I ... ORPHA:276575
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, He... ORPHA:436271
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent pancreatitis, Increased g... OMIM:619290
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus 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
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Central adrenal in... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Central adrenal in... ORPHA:71526
Type 1 Diabetes Mellitus
Polyuria, Hyperglycemia, Diabetes mellitus OMIM:222100
Proximal Renal Tubular Acidosis
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bicarbonaturia, G... ORPHA:47159
Biliary Malformation With Renal Tubular Insufficiency
Glycosuria, Generalized aminoaciduria, Renal tubular dysfunction, Proteinuria, Jaundice, Aminoaci... OMIM:210550
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia OMIM:616033
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Hyperinsulinemia ORPHA:329249
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnormal response to glucagon stim... ORPHA:79644
Fanconi-Bickel Syndrome
Glycosuria, Renal tubular dysfunction, Generalized aminoaciduria, Hyperphosphaturia OMIM:227810
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Intrauterine growth retardation, Hyperinsulinemia,... ORPHA:1227
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation test OMIM:618160
Juvenile Nephropathic Cystinosis
Glycosuria, Hypothyroidism, Renal Fanconi syndrome, Proteinuria, Proximal tubulopathy, Chronic ki... ORPHA:411634
Myasthenia Gravis
Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Abnormality of the thymus, Hype... ORPHA:589
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Glycosuria, Hypohidrosis, Proteinuria, Polyuria, Male hypogona... OMIM:219800
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Splenomegaly, Hyperinsulinemia ORPHA:66518
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Fructose Intolerance, Hereditary
Glycosuria, Hepatic steatosis, Hypoglycemia, Hyperuricosuria, Bicarbonaturia, Proximal tubulopath... OMIM:229600
Infantile Nephropathic Cystinosis
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormality of thyroid physiology,... ORPHA:411629
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Insulin-resistant di... OMIM:604367
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Abnormal circulating hormone concentration, Hyperinsulinemia, Polycystic ovari... ORPHA:280356
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Excessive insulin response to glucagon test, Recurrent hypoglycemia, Hepat... ORPHA:276556
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hyperglycemia, Hepatomegaly, Insulin-resistant diabetes mellitus OMIM:608600
Short Stature, Dauber-Argente Type
Short stature, Fasting hyperinsulinemia, Postnatal growth retardation OMIM:619489
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Pearson Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Hypothyroidism, Hypoplastic spleen, Adrenal insuff... ORPHA:699
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Donohue Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Hyperinsulinemia, Cholestasis, Pancreatic ... OMIM:246200
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Exocrine pancreatic insufficiency, Glycosuria, Renal tubular dysfunction, Cirrhosis, Glucose into... OMIM:616539
Mitchell-Riley Syndrome
Absent gallbladder, Intrauterine growth retardation, Cholestasis, Pancreatic hypoplasia, Biliary ... OMIM:615710
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Urinary retention, Recurrent hypoglycemia, Neoplasm of the liver, Abnormality of th... ORPHA:2126
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Short stature, Type II diabetes mellitus, H... ORPHA:3085
Hemochromatosis, Type 4
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Cirrhosis, Glucose intolerance, Impaired gluc... OMIM:606069
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Temple Syndrome
Cryptorchidism, Recurrent hypoglycemia, Short stature, Precocious puberty, Type II diabetes melli... ORPHA:254516
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Absent gallbladder, Intrauterine growth retardation, Ureteral duplication, Pancreatic... OMIM:600001
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Decrease... ORPHA:179494
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Micropenis, Hypercalciuria, Cryptorchidism, Adrenal hypoplasia, ... OMIM:614732
Retinitis Pigmentosa
Hyperinsulinemia, Hypoplasia of penis, Type II diabetes mellitus, Abnormal testis morphology, Hyp... ORPHA:791
Tropical Pancreatitis
Jaundice, Pancreatic calcification, Pancreatic adenocarcinoma, Abnormal pancreatic duct morpholog... ORPHA:103918
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Atypical Werner Syndrome
Glycosuria, Hepatic steatosis, Renal neoplasm, Hyperinsulinemia, Delayed puberty, Insulin-resista... ORPHA:79474
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Diabetes mellitus, Pancreatitis, Pan... OMIM:167800
Perlman Syndrome
Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Hypoplasia of penis, Hepatomegaly... ORPHA:2849
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short stature, Glucose intolerance OMIM:309620
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Short stature, Decreased serum insulin-like growth factor 1, Postnatal growth retard... OMIM:618985
Tropical Calcific Pancreatitis
Pancreatic calcification, Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hepatomegaly, Increased level of galactitol i... ORPHA:79237
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Acute kidney injury, Ketonuria, Hyperglycemia, Hyperhidrosis ORPHA:466677
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, 3-Methylglutaric aciduria, Intrauterine growth retardation, Cry... OMIM:610198
Paroxysmal Nocturnal Hemoglobinuria
Glycosuria, Renal Fanconi syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Hem... ORPHA:447
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, En... ORPHA:785
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Isolated Sedoheptulokinase Deficiency
Abnormal renal tubule morphology, Portal hypertension, Severe postnatal growth retardation, Chole... ORPHA:440713
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Nephrocalcinosis, Insulin resistance... ORPHA:769
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Cirrhosis ORPHA:363400
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... ORPHA:556037
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatic steatosis, Intrauterine growth retardation,... ORPHA:71212
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Proteinuria, Polycys... ORPHA:79086
Short Syndrome
Birth length less than 3rd percentile, Intrauterine growth retardation, Insulin-resistant diabete... OMIM:269880
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Hypospadias OMIM:175700
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hypogonadotropic hypogonadism, Portal hypertension, Cholangiocarcinoma, Decreased... ORPHA:465508
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hepatomegaly OMIM:602579
Bardet-Biedl Syndrome 9
Hyperglycemia, Renal insufficiency OMIM:615986
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... ORPHA:556030
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Postnatal growth retardation, Hyperglycemi... OMIM:248370
Mpi-Cdg
Hypothyroidism, Portal hypertension, Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia ORPHA:79319
Congenital Generalized Lipodystrophy
Hepatic steatosis, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, Polycysti... ORPHA:528
Alstrom Syndrome
Hypothyroidism, Hepatic steatosis, Diabetes insipidus, Hyperinsulinemia, Tubulointerstitial nephr... OMIM:203800
Lipodystrophy, Familial Partial, Type 2
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Polycystic ovaries, Hepatomegaly, Insuli... OMIM:151660
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Renal tubular acidosis, Fasting hypoglycemia, Polycystic ovaries, Recurrent... ORPHA:79240
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Postnatal growth retar... ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Leprechaunism
Enlarged kidney, Fasting hypoglycemia, Nephrocalcinosis, Insulin resistance, Hyperinsulinemia, Ce... ORPHA:508
Necrotizing Enterocolitis
Peritonitis, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Martinez-Frias Syndrome
Intrauterine growth retardation, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annula... OMIM:601346
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine, Hyperinsulinemia, Nocturia ORPHA:230
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hypoglycemia, Hyperglycemia ORPHA:134
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Decreased serum testosterone conce... ORPHA:3464
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Enlarged kidney, Cholestasis, Pancreatic cysts, Bile duct proliferation, Urete... OMIM:208540
Dend Syndrome
Hyperglycemia ORPHA:79134
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Splenomegaly, Hepatomegaly OMIM:613327
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Acute pancreatitis, Nephrolithiasis, Hyperinsulinemia, Polycystic ovaries, Spl... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Acute pancreatitis, Nephrolithiasis, Hyperinsulinemia, Polycystic ovaries, Spl... OMIM:269700
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Micropenis, Cryptorchidis... OMIM:176270
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with diffuse goiter, Urinary retent... ORPHA:79102
Pyruvate Carboxylase Deficiency
Lacticaciduria, Hypoglycemia, Hepatomegaly, Growth delay, Hyperglycemia ORPHA:3008
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Hypohidrosis, Abnormality of the hypothalamu... ORPHA:293987
Igg4-Related Submandibular Gland Disease
Sialadenitis, Abnormal salivary gland morphology, Cholangitis, Enlarged lacrimal glands, Abnormal... ORPHA:449432
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Hypoglycemia, Hepatoblastoma, Adrenocortical c... ORPHA:116
Turner Syndrome Due To Structural X Chromosome Anomalies
Biliary cirrhosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Intrauterine growth re... ORPHA:99413
Turner Syndrome
Biliary cirrhosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Intrauterine growth re... ORPHA:881
Mosaic Monosomy X
Biliary cirrhosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Intrauterine growth re... ORPHA:99228
Monosomy X
Biliary cirrhosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Intrauterine growth re... ORPHA:99226
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Horseshoe kidney, Hyperglycemia, Short stature, Decreased response to growth horm... ORPHA:444077
Steinert Myotonic Dystrophy
Cholelithiasis, Insulin resistance, Hyperinsulinemia, Abnormality of thyroid physiology, Decrease... ORPHA:273
Alström Syndrome
Hyoplasia of the Leydig cells, Recurrent cystitis, Functional abnormality of the bladder, Dysuria... ORPHA:64
Pmm2-Cdg
Abnormal renal tubule morphology, Hypogonadotropic hypogonadism, Multiple renal cysts, Nephrotic ... 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.

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MGI Allele Allele Type Produced
Mafatm388265(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mafatm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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