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Gene: Fam13a MGI:1889842

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Gene Summary

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

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IMPC Data Collections

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.

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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
Fam13aem1(IMPC)Wtsi
head, snout, abnormal snout morphology, short snout, HOM, Female, WTSI
Fam13aem1(IMPC)Wtsi
eye, abnormal eye morphology, eye opacity, corneal opacity, HOM, Female, WTSI
Fam13aem1(IMPC)Wtsi
abnormal coat/hair pigmentation, abnormal ventral coat pigmentation, HOM, Female, WTSI

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
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology ORPHA:2398
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Insu... OMIM:612526
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon... ORPHA:293964
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Pancreatitis ORPHA:79084
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... OMIM:615980
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Inc... ORPHA:79085
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance ORPHA:140941
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Acute pancreatitis, Hypertriglyceridemia, Lipodystr... OMIM:608600
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Gout, Increased LDL cholesterol concentration, ... OMIM:610947
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu... ORPHA:435660
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis OMIM:246650
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperlipidemia, Hypertriglyceridemia, Hyperinsulinemia OMIM:617885
Cortisone Reductase Deficiency 2
Insulin resistance OMIM:614662
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... ORPHA:363400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Diabetes melli... OMIM:615381
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Diabetes mellitu... ORPHA:79083
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, D... ORPHA:2348
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Adipose tissue loss, Insulin resistance, ... ORPHA:528
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Hypoketotic hypoglycemia, Increased circulating free fatty ... OMIM:610768
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Pneumonia, Elevated circulating creatine kinase concentrati... ORPHA:26793
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue ORPHA:199276
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus... ORPHA:79086
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglyce... ORPHA:2298
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Pancreatitis, ... ORPHA:435651
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... ORPHA:280365
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Elevated... OMIM:617253
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Acute pancreat... OMIM:151660
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Flexion contracture, Elbow flexion contracture, Recurrent pneumonia, Knee fle... OMIM:214150
Short Syndrome
Inguinal hernia, Lipoatrophy, Lipodystrophy, Insulin resistance, Absence of subcutaneous fat, Ins... OMIM:269880
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:90301
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Hyperlipidemia, Calcinosis, Generalized lipodystrophy ORPHA:90154
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin ... OMIM:613327
Placental Insufficiency
Insulin resistance ORPHA:439167
Whipple Disease
Hyponatremia, Myositis, Pericarditis, Myocarditis, Insulin resistance, Uveitis, Arthritis, Infect... ORPHA:3452
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia ORPHA:73272
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... ORPHA:769
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Werner Syndrome
Lipoatrophy, Lipodystrophy, Insulin resistance, Type II diabetes mellitus, Chondrocalcinosis ORPHA:902
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Inguinal hernia, Diabetes mellitus, Abnormal circulating lipid concentration OMIM:616541
Thalidomide Embryopathy
Insulin resistance, Chronic rhinitis ORPHA:3312
Bloom Syndrome
Diabetes mellitus, Skin rash, Pneumonia, Adipose tissue loss, Insulin resistance, Cheilitis, Uvei... ORPHA:125
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, Li... OMIM:248370
Gitelman Syndrome
Maternal diabetes, Hypomagnesemia, Insulin resistance, Hypermagnesemia, Gout, Tubulointerstitial ... ORPHA:358
Aromatase Deficiency
Insulin resistance, Hyperlipidemia, Type II diabetes mellitus ORPHA:91
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Hypokalemia, Hyperaldo... ORPHA:508
Monosomy 13Q34
Insulin resistance, Hypercalcemia ORPHA:96168
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia ORPHA:813
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Fasting hypoglycemia, Esophagitis ORPHA:96182
Bardet-Biedl Syndrome 1
Insulin resistance, Diabetes mellitus OMIM:209900
Steinert Myotonic Dystrophy
Hypercholesterolemia, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:273
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Osteoarthritis, Absence of subcutaneous fat ORPHA:740
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Lipodystrophy, Abnormal subcutaneous fat tissue distri... ORPHA:79318
Alström Syndrome
Hypertriglyceridemia, Dorsocervical fat pad, Glomerulonephritis, Hyperlipidemia, Recurrent pneumo... 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 11 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
Loss of family with sequence similarity 13, member A exacerbates pulmonary hypertension through accelerating endothelial-to-mesenchymal transition. PloS one (February 2020) Fam13atm1e(KOMP)Wtsi PMC7018082
Loss of Family with Sequence Similarity 13, Member A Exacerbates Pulmonary Fibrosis Potentially by Promoting Epithelial to Mesenchymal Transition. The Kobe journal of medical sciences (January 2020) Fam13atm1e(KOMP)Wtsi PMC7012324
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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