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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Viewing: all phenotypes
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Viewing: all phenotypes

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
Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Insulin resistance, Lipodystrophy, Hypertriglyceridemia, Redu... OMIM:612526
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Type II diabetes mellitus, Decrea... OMIM:615703
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Lipoatrophy, Pancreatitis, Diabetes mellitus ORPHA:79084
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance OMIM:612227
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Gout, Hypertriglyceridemia... OMIM:610947
Akt2-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Insulin resistance, Lipodystrophy, Insulin-resistant diabetes melli... ORPHA:79085
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance ORPHA:140941
Lipe-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Insulin resistance, Lipodystrophy, Increased adipose tissue around ... ORPHA:435660
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Diabetes mellitus ORPHA:181393
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Insulin resistance OMIM:617885
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Pancreatitis, Type II diabetes mellitus OMIM:246650
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance ORPHA:79087
Cortisone Reductase Deficiency 2
Insulin resistance OMIM:614662
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Hypertriglyceridemia... ORPHA:363400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Lipodystrophy, Flexion contracture, Hypertriglyceridemia, Diabetes mellitus OMIM:615381
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Lipoatrophy, Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Lipodystrophy, Lipoatrophy, Hypertriglyceridemia, Pancreatitis, D... ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Insulin resistance, Lipoatrophy, Hyperuricemia, Insulin-resistant diabetes mel... ORPHA:79083
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance OMIM:147630
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Hyperuricemia, Insulin-resistant diabetes mel... OMIM:604367
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Primary Lipodystrophy
Insulin resistance, Lipodystrophy, Lipoatrophy, Pancreatitis, Type II diabetes mellitus, Hyperlip... ORPHA:90970
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Adipose tissue loss, Lipodystrophy, H... ORPHA:528
Familial Multiple Lipomatosis
Lipodystrophy, Hyperlipidemia, Increased adipose tissue, Insulin resistance ORPHA:199276
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Panniculitis, Abnormal circulating lipid concentration, Ins... ORPHA:79086
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hypoketotic hypoglycemia, Pneumonia, Increased circulating free fa... ORPHA:26793
Insulin-Resistance Syndrome Type B
Skin rash, Hyperinsulinemic hypoglycemia, Pneumonia, Abnormal circulating lipid concentration, Hy... ORPHA:2298
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Loss of gluteal subcuta... ORPHA:435651
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Increased intraabdominal fat, Insulin resistance, Lipoatrophy, Increase... ORPHA:280365
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:90301
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Adipose tissue loss, Increa... OMIM:151660
Seckel Syndrome 10
Glucose intolerance, Insulin resistance, Elevated hemoglobin A1c, Impaired glucose tolerance, Gly... OMIM:617253
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Generalized lipodystrophy, Hyperlipidemia, Insulin resistance ORPHA:90154
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Lipodystrophy, Flexion contracture, Hypertriglyceridemia, E... OMIM:613327
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Inguinal hernia, Diabetes m... ORPHA:3163
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Acne OMIM:615363
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Insulin resistance ORPHA:73272
Whipple Disease
Pericarditis, Insulin resistance, Uveitis, Hyponatremia, Encephalitis, Myocarditis, Myositis, Art... ORPHA:3452
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,... ORPHA:769
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Elevated circulating creatin... ORPHA:230
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Placental Insufficiency
Insulin resistance ORPHA:439167
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Hyperlipidemia, Insulin resistance ORPHA:90153
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Lipodystrophy, Lipoatrophy, Type II diabetes mellitus ORPHA:902
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Abnormal circulating lipid concentration, Insulin resistance OMIM:616541
Thalidomide Embryopathy
Chronic rhinitis, Insulin resistance ORPHA:3312
Gitelman Syndrome
Hypocalcemia, Maternal diabetes, Hypermagnesemia, Glucose intolerance, Chondrocalcinosis, Insulin... ORPHA:358
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Bloom Syndrome
Skin rash, Insulin resistance, Adipose tissue loss, Uveitis, Pneumonia, Cheilitis, Rhinitis, Diab... ORPHA:125
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Aromatase Deficiency
Hyperlipidemia, Type II diabetes mellitus, Insulin resistance ORPHA:91
Monosomy 13Q34
Infantile hypercalcemia, Insulin resistance ORPHA:96168
Silver-Russell Syndrome
Recurrent hypoglycemia, Insulin resistance ORPHA:813
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Esophagitis, Insulin resistance ORPHA:96182
Steinert Myotonic Dystrophy
Hypercholesterolemia, Diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:273
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Absence of subcutaneous fat, Insulin resistance ORPHA:740
Pmm2-Cdg
Pericarditis, Hyperinsulinemia, Insulin resistance, Abnormal subcutaneous fat tissue distribution... ORPHA:79318
Alström Syndrome
Hyperinsulinemia, Insulin resistance, Recurrent sinusitis, Hyperlipidemia, Glomerulonephritis, He... 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
Fam13atm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fam13aem1(IMPC)Wtsi Exdel Mice
Fam13atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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