Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
fatty acid binding protein 5, epidermal
Synonyms:
Unknown Klbp, keratinocyte lipid binding protein,  Klbp,  Fabpe E-FABP,  mal1

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.

Legacy Phenotype Associated Images

View all 20 images

Human diseases caused by Fabp5 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 Fabp5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Short Stature Due To Ghsr Deficiency
Decreased body weight, Hypoglycemia, Abnormality of body weight, Decreased serum insulin-like gro... ORPHA:314811
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Insulin resistance, Hepatomegaly, Decreased adiponectin level, ... ORPHA:79085
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Hepatomegaly, Decreased adiponectin leve... OMIM:615238
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Insulin resistance, Loss of gluteal subcutaneous adipose tissue... ORPHA:435660
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Increased hepatic glycogen content, Hepatomegaly, Ele... OMIM:232700
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin... ORPHA:411593
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Loss of gluteal subcutaneous adipose tissue, Decreased serum le... ORPHA:435651
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Glycogen Storage Disease Ixa1
Hypoglycemia, Elevated hepatic transaminase, Hepatomegaly OMIM:306000
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... OMIM:262700
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Ex... ORPHA:324575
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Fa... OMIM:617872
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Diabetes insipidus, Insulin resistance, Fine hair, Truncal obesity, Failure to thri... ORPHA:181393
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hypergonadotropic hypogonadism, Male hypogonadism, Hyperglycemia OMIM:307500
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Failure t... OMIM:617156
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:67046
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Hypoglycemia, Central hypothyroidism OMIM:616113
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasti... ORPHA:2298
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276580
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testosterone concentration,... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testosterone concentration,... ORPHA:179494
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia ORPHA:446
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Increased hepatic glycogen content, Hepatomegaly, Failure to thrive, Portal fibrosi... ORPHA:369
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Mody
Large for gestational age, Exocrine pancreatic insufficiency, Glycosuria, Neonatal hypoglycemia, ... ORPHA:552
Hemochromatosis, Type 4
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Cirrhosis, Glucose intolerance, Impaired gluc... OMIM:606069
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Hepatic steatosis, Premature graying of hair, Generalize... ORPHA:280365
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Acth Deficiency, Isolated
Fasting hypoglycemia, Cholestasis, Decreased circulating cortisol level, Jaundice, Adrenal hypopl... OMIM:201400
Hemochromatosis, Neonatal
Hepatic failure, Hypoglycemia, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice,... OMIM:231100
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnorma... ORPHA:79644
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Ele... OMIM:619048
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism OMIM:614962
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Neonatal hypoglycemia, Hypoglycemic seizures, Panhypopitui... OMIM:262600
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Blue Diaper Syndrome
Recurrent hypoglycemia, Decreased circulating T4 level, Elevated circulating thyroid-stimulating ... ORPHA:94086
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Hepatomegaly, ... OMIM:212140
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:608594
Propionic Acidemia
Hypoglycemia, Hepatomegaly ORPHA:35
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:269700
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased circulating cortisol level, Adrenal hypop... ORPHA:199296
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Hypoglycemia, Panhypopituitarism, Decr... ORPHA:95619
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Hepatomegaly, Acute hepatic failure, Failure to t... OMIM:256810
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly, Hypoglycemia ORPHA:664
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Highly a... OMIM:220111
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Small for gestational age, Hepatomegaly, Fail... ORPHA:79237
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic steatosis, Fasting hypoglycemia, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis,... OMIM:261680
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Reduced subcutaneous adipose tissue, Failure to thrive, Diab... OMIM:609069
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Hypoglycemia, Congenital hypothyroidism OMIM:614736
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Hypoglycemia, Periportal fibrosis, Splen... OMIM:251880
Glucocorticoid Resistance, Generalized
Hypoglycemia, Hirsutism OMIM:615962
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Abnormal response to corticotropin releasing hormone stimulation test, Macrono... ORPHA:189427
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Glycosuria, Hypoglycemia, Hepatomegaly, Elevated hepatic transaminase,... OMIM:616026
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Hypoglycemia, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus,... ORPHA:95496
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly, Failure to thrive, Hypoketotic hypoglycemia, Cholestatic liver disease ORPHA:5
Atypical Werner Syndrome
Glycosuria, Aplasia/Hypoplasia of the eyebrow, Chondrocalcinosis, Diabetes mellitus, Abnormal hai... ORPHA:79474
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Eleva... OMIM:617049
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Hypoglycemia, Thyroid adenoma, Pituitary prolactin cell adenoma, Parathyroid... OMIM:131100
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Jaundice OMIM:616483
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Elevated hepatic transaminase, Hepatomegaly OMIM:201450
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Abnormality of the peritoneum, Hypoi... ORPHA:2126
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Hypoglycemia, Fasting hypoglycemia, Cholestasis, Splenomegaly, Hepatocellular ... ORPHA:264580
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Decreased circulating cortisol level, Jaundice, Failure to thrive, Abnormal circula... ORPHA:90790
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Increased urinary cortisol level, Frontal balding, Decreased circulating aldosteron... ORPHA:786
Rett Syndrome
Cholecystitis, Failure to thrive, Increased serum leptin ORPHA:778
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:226307
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Sparse eyebrow, Sparse scalp hair, Lipoatrophy, Nail dystrophy, Failure to t... OMIM:614008
Tyrosinemia, Type I
Hypoglycemia, Pancreatic islet-cell hyperplasia, Splenomegaly, Hepatomegaly, Acute hepatic failur... OMIM:276700
Non-Acquired Panhypopituitarism
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Hypoglycemia, Delayed puberty, A... ORPHA:90695
Hutchinson-Gilford Progeria Syndrome
Patchy alopecia, Female hypogonadism, Insulin resistance, Dystrophic toenail, Loss of eyelashes, ... ORPHA:740
Glycogen Storage Disease Ic
Hepatoblastoma, Hypoglycemia, Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Delay... OMIM:232240
Visceral Steatosis, Congenital
Hepatic steatosis, Hypoglycemia, Jaundice OMIM:228100

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 Fabp5

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 Fabp5.

No publications found that use IMPC mice or data for Fabp5.

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MGI Allele Allele Type Produced
Fabp5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fabp5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Fabp5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Fabp5tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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