Gene Summary

Name:
family with sequence similarity 13, member A
Synonyms:
D430015B01Rik

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.

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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

Human diseases caused by Fam13a 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 Fam13a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Idiopathic Pulmonary Fibrosis
Bronchiectasis ORPHA:2032

The table below shows human diseases predicted to be associated to Fam13a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Lipodystrophy, Hype... OMIM:612526
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... OMIM:604367
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Lipoatrophy, Diabetes mellitus, Insulin resistance ORPHA:79084
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Gout, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Lipodystrophy, Hypertriglyceridemia, Increased intraabdominal fat, Insulin-resist... ORPHA:79085
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus ORPHA:181393
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance ORPHA:140941
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Loss of gluteal subcutaneous adipose ti... ORPHA:435660
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia OMIM:617885
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Cortisone Reductase Deficiency 2
Insulin resistance OMIM:614662
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... ORPHA:71212
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... ORPHA:363400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Flexion contracture, Lipodystrophy, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance OMIM:615381
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Lipoatrophy, Insulin resistance, Maternal diabetes, Hypertriglyceridemia, Insulin-r... ORPHA:79083
Primary Lipodystrophy
Type II diabetes mellitus, Lipoatrophy, Pancreatitis, Hyperlipidemia, Lipodystrophy, Insulin resi... ORPHA:90970
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Pancreatitis, Cellulitis, Lipodystrophy, Hypertriglyceridemia, Diabetes mellitus, In... ORPHA:2348
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Increased C-peptide level, Lipodystrophy, Hypertriglyceridemia, Adipose tissue ... ORPHA:528
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Inflammatory abnormality of the skin, Increased circulating free fatty ... OMIM:610768
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Hypocalcemia, Hypoproteinemia, Hyperammonemia, Hypoketotic ... ORPHA:26793
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal circulating lipid concentration, Generalized lipodystrophy, Acute panc... ORPHA:79086
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Pneumonia, Hyperglyc... ORPHA:2298
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... OMIM:233805
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Hypertr... ORPHA:435651
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Pancr... ORPHA:280365
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Flexion contracture, Insulin resistance, Camptodactyly, Elbow flex... OMIM:214150
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Glycosuria, Impaired glucose tolerance, Acute pancr... OMIM:617253
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance, Acne OMIM:615363
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Calcinosis ORPHA:90154
Short Syndrome
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Abnormal dental enamel mor... ORPHA:3163
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Flexion contracture, Elevated circulating creatine kinase concentration, Lipody... OMIM:613327
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Neonatal hyperbilirubinemia, Insulin resistance ORPHA:73272
Whipple Disease
Myositis, Myocarditis, Arthritis, Uveitis, Infectious encephalitis, Hyponatremia, Insulin resista... ORPHA:3452
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Hypokalemia, Diabetic ketoacidos... ORPHA:769
Placental Insufficiency
Insulin resistance ORPHA:439167
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... ORPHA:230
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Glucose intolerance, Decreased adipose tissue around neck, I... OMIM:606721
Werner Syndrome
Type II diabetes mellitus, Lipoatrophy, Chondrocalcinosis, Lipodystrophy, Insulin resistance ORPHA:902
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Inguinal hernia, Diabetes mellitus OMIM:616541
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:248370
Thalidomide Embryopathy
Chronic rhinitis, Insulin resistance ORPHA:3312
Gitelman Syndrome
Glucose intolerance, Hypomagnesemia, Type II diabetes mellitus, Hypokalemia, Hypocalcemia, Diabet... ORPHA:358
Bloom Syndrome
Cheilitis, Skin rash, Otitis media, Uveitis, Pneumonia, Adipose tissue loss, Insulin resistance, ... ORPHA:125
Aromatase Deficiency
Insulin resistance, Hyperlipidemia, Type II diabetes mellitus ORPHA:91
Leprechaunism
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Hyperinsulinemia, Hypokalemia, I... ORPHA:508
Monosomy 13Q34
Insulin resistance, Infantile hypercalcemia ORPHA:96168
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia ORPHA:813
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Esophagitis, Insulin resistance ORPHA:96182
Bardet-Biedl Syndrome 1
Insulin resistance, Diabetes mellitus OMIM:209900
Steinert Myotonic Dystrophy
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Diabetes mellitus ORPHA:273
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Absence of subcutaneous fat, Osteoarthritis ORPHA:740
Pmm2-Cdg
Multiple joint contractures, Hyperinsulinemia, Aspiration pneumonia, Reduced thyroxin-binding glo... ORPHA:79318
Alström Syndrome
Type II diabetes mellitus, Pancreatitis, Hyperinsulinemia, Hyperlipidemia, Otitis media, Insulin ... ORPHA:64
Idiopathic Pulmonary Fibrosis
Bronchiectasis ORPHA:2032

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 Fam13a

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 Fam13a.

There are 9 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Fam13aem1(IMPC)Wtsi PMC7263671
FAM13A affects body fat distribution and adipocyte function. Nature communications (March 2020) Fam13atm1a(KOMP)Wtsi PMC7081215
FAM13A Represses AMPK Activity and Regulates Hepatic Glucose and Lipid Metabolism. iScience (February 2020) Fam13atm2a(KOMP)Wtsi PMC7063182
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Fam13aem1(IMPC)Wtsi PMC6671969
Obesity-associated family with sequence similarity 13, member A (FAM13A) is dispensable for adipose development and insulin sensitivity. International journal of obesity (2005) (October 2018) Fam13atm2d(KOMP)Wtsi PMC6456441
Family with sequence similarity 13, member A modulates adipocyte insulin signaling and preserves systemic metabolic homeostasis. Proceedings of the National Academy of Sciences of the United States of America (January 2018) Fam13atm1e(KOMP)Wtsi PMC5816206
Transcriptomic Analysis of Lung Tissue from Cigarette Smoke-Induced Emphysema Murine Models and Human Chronic Obstructive Pulmonary Disease Show Shared and Distinct Pathways. American journal of respiratory cell and molecular biology (July 2017) Fam13atm2a(KOMP)Wtsi PMC5516276
Genetic Control of Fatty Acid β-Oxidation in Chronic Obstructive Pulmonary Disease. American journal of respiratory cell and molecular biology (June 2017) Fam13atm2a(KOMP)Wtsi PMC5516290
A Chronic Obstructive Pulmonary Disease Susceptibility Gene, FAM13A, Regulates Protein Stability of β-Catenin. American journal of respiratory and critical care medicine (July 2016) Fam13atm2a(KOMP)Wtsi PMC5003213

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MGI Allele Allele Type Produced
Fam13atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fam13atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Fam13atm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Fam13atm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fam13aem1(IMPC)Wtsi Deletion Mice

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