Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
Synonyms:
vaspin

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 Serpina12 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 Serpina12 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
ORPHA:86923

The table below shows human diseases predicted to be associated to Serpina12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly, Insulin resistance ORPHA:2398
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepat... OMIM:232700
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, H... OMIM:612526
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglycerid... OMIM:306000
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Insulin-resis... ORPHA:79085
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Obesity, Increased LDL cholesterol c... OMIM:615703
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance, Truncal obesity ORPHA:140941
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mel... OMIM:613877
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneou... ORPHA:435660
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Lipoatrophy, Diabetes mell... ORPHA:79084
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutane... OMIM:604367
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypercholesterolemia, Truncal obesity, Fail... ORPHA:181393
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid ... OMIM:615980
Hypertriglyceridemia 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:619324
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide level, Hepatomegaly,... OMIM:615238
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Childhood-onset truncal obesity, Type II dia... ORPHA:71529
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, De... ORPHA:435651
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Increased subcuta... OMIM:608600
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Insul... ORPHA:528
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Hyperinsulinemia, Hypercholesterolemia, Los... OMIM:151660
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Ce... OMIM:301033
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypermethioninemia, Elevated plasma citrulline, Intrahepatic cholestasis, F... OMIM:605814
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Abnormal circulating hormone concentration, Hyperinsulinemia, Loss of gluteal ... ORPHA:280356
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Decreased ... OMIM:616828
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Temple Syndrome
Flexion contracture, Small for gestational age, Hypercholesterolemia, Overweight, Truncal obesity... OMIM:616222
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hepatomegaly, Diabetes... OMIM:615381
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Hypoalbumine... OMIM:616000
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Lipoatrophy ORPHA:79087
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Increased subcutaneous truncal adipos... ORPHA:2457
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Hypercholes... ORPHA:69663
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Cholestasis, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Cholestasis, Hyperinsul... ORPHA:71526
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hepatosplenomegaly, Small for gestational age, Hypercholesterole... ORPHA:79237
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Lip... ORPHA:2348
Lipase Deficiency, Combined
Type II diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Pancreatitis OMIM:246650
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Lipoatrophy, Insulin-resistant... ORPHA:79083
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Lysosomal Acid Lipase Deficiency
Hepatic failure, Hypersplenism, Decreased HDL cholesterol concentration, Adrenal calcification, P... OMIM:278000
Primary Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Splenomegaly, Lipoatrophy, ... ORPHA:90970
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Fa... ORPHA:324575
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Abnormal circulating... ORPHA:79086
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testosterone concentration,... ORPHA:66628
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Hepatic steatosis, Insulin resistance, Increased facial ... ORPHA:280365
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia ORPHA:254531
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testosterone concentration,... ORPHA:179494
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasti... ORPHA:2298
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Obesity, Acute hepa... ORPHA:209902
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Elevated circulating ala... OMIM:619662
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypothyroidism, Hypercholesterolemia, Obesity, Hepatomegal... ORPHA:412
Familial Multiple Lipomatosis
Lipodystrophy, Hyperlipidemia, Insulin resistance, Increased adipose tissue, Overgrowth ORPHA:199276
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Laron Syndrome
Hypoglycemia, Hypercholesterolemia, Truncal obesity, Delayed puberty, Abnormality of the endocrin... ORPHA:633
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hypercholesterolemia, Abnormality of the thyroid gland, Obesity, Hyperuricemia, D... ORPHA:77296
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Type I diabetes mellitus,... ORPHA:276575
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemia, Sple... OMIM:613327
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased total bilirubin, Ascites, Increa... ORPHA:890
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabete... ORPHA:436182
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Hypoglycemic seizures, Gonadotropin deficiency, Cholestasis, Obesity, Adre... OMIM:609734
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Increased C-peptide level, Decreased circulatin... ORPHA:276556
Mody
Exocrine pancreatic insufficiency, Large for gestational age, Glycosuria, Neonatal hypoglycemia, ... ORPHA:552
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Hypoglycemia, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Delayed... ORPHA:264580
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:608594
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Hypercholesterolemia, Obesity, Truncal obesity, Precocious puberty, Ma... ORPHA:96184
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Delayed puberty, Sple... ORPHA:370
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia, Splenom... ORPHA:79240
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Delayed menarche, Hypercholesterolemia, Eleva... ORPHA:247585
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:269700
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Blue Diaper Syndrome
Hypercalcemia, Recurrent hypoglycemia, Decreased circulating T4 level, Hyperphosphatemia, Elevate... ORPHA:94086
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Increas... ORPHA:79644
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsuline... ORPHA:263455
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Hypercholesterolemia OMIM:615812
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Cog4-Cdg
Hepatosplenomegaly, Failure to thrive in infancy, Hypercholesterolemia, Fatal liver failure in in... ORPHA:263501
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Seckel Syndrome 10
Glycosuria, Acute pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase ... OMIM:617253
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Overweight, Hypercholesterolemia ORPHA:401923
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Insulin resistance, Elevated circulating growth hormone concentration, Insulin-r... ORPHA:90301
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Failure to thrive in infancy, Hyperbilirubinemia, Hyperammonemia, Decreased HDL chol... ORPHA:247598
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism OMIM:614962
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Increase... OMIM:615830
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Small for gestational age, Truncal obesity, Failure to thrive, ... ORPHA:73272
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Increased body weight, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Obesity, Joint contracture of the hand OMIM:264010
Growth Factors, Combined Defect Of
Lipodystrophy, Flexion contracture, Reduced subcutaneous adipose tissue, Insulin-resistant diabet... OMIM:233805
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Hypercholesterolemia, Reduced radio... ORPHA:90674
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Obesity, Hypergonadotropic hypogonadism, E... ORPHA:91
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Abnormal response to corticotropin releasing hormone stimulati... ORPHA:189427
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Adrenal hyperplasia, Pigmented micronodular adrenocortical dis... ORPHA:189439
Short Syndrome
Lipodystrophy, Insulin resistance, Inguinal hernia, Abnormal dental enamel morphology, Diabetes m... ORPHA:3163
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, Omphal... OMIM:614450
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypokalemia, Fasting hypoglycemia, Increased C-peptide level, Insulin resi... ORPHA:769
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Calcinosis, Delayed puberty ORPHA:90154
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Hypokalemia, Weight loss, Adrenocortical car... ORPHA:1501
Lipodystrophy, Familial Partial, Type 7
Lipodystrophy, Recurrent pancreatitis, Small for gestational age, Hypercholesterolemia, Insulin r... OMIM:606721
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Type II diabetes melli... OMIM:618620
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Central Precocious Puberty
Obesity, Isosexual precocious puberty, Overgrowth, Premature thelarche, Increased circulating gon... ORPHA:759
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Halothane Hepatitis
Viral hepatitis, Obesity, Hepatitis, Jaundice OMIM:234350
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Leprechaunism
Hypokalemia, Decreased body weight, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, I... ORPHA:508
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Inguinal hernia, Biliary tract abnormality, Ty... ORPHA:3191
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Flexion contracture, Hyperinsulinemia, Loss of facial adipose tissue, Decreased a... OMIM:608612
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Peritonitis, Abnormal circulating lipid concentration, Hypoalbuminemia, Hyp... ORPHA:567548
Lysosomal Acid Lipase Deficiency
Hepatic failure, Primary adrenal insufficiency, Fatal liver failure in infancy, Ascites, Hyperspl... ORPHA:275761
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy, Insulin resistance, Obesity, Truncal obesity, Biliary tract abnorma... OMIM:209900
Sitosterolemia 1
Abnormality of the liver, Hypercholesterolemia, Splenomegaly, Elevated circulating sitosterol con... OMIM:210250
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Hyperlipidemia, Flexion contracture, Hyperinsulinemia, Increased facial adipose ti... OMIM:248370
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypogonadism ORPHA:791
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Cholecystitis, Obesity, Overweight, Hype... ORPHA:90041
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Jau... OMIM:616860
Whipple Disease
Hypothyroidism, Hyponatremia, Insulin resistance, Splenomegaly, Hepatomegaly, Cachexia ORPHA:3452
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Monosomy 13Q34
Hepatic steatosis, Obesity, Insulin resistance, Infantile hypercalcemia ORPHA:96168
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Insulin resistance, Abnormal circulating lipid concentration, Truncal obesity, In... OMIM:616541
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Glycosuria, Hypoglycemia, Hepatomegaly, Hypouricemia, Elevated hepatic... OMIM:616026
Smith-Magenis Syndrome
Hypothyroidism, Failure to thrive in infancy, Hypercholesterolemia, Obesity, Precocious puberty, ... ORPHA:819
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Adrenocortical adenoma OMIM:248100
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Failure to thriv... OMIM:613812
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity, Reactive hypoglycemia, Hypogonadotropic hypogonadism OMIM:600955
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Hypocalcemia, Obesity, Hyperphosphatemia, Elevated circulating parathyr... OMIM:603233
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Left ventricular hypertrophy, Hypercholesterolemia, Hypopituitarism, Hyperglycemia ORPHA:90065
Wilson Disease
Hepatic steatosis, Cirrhosis, Weight loss, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic fa... ORPHA:905
Obesity Due To Sim1 Deficiency
Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Lmna-Related Cardiocutaneous Progeria Syndrome
Pulmonary carcinoid tumor, Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia, Abnormality o... ORPHA:363618
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hypoglycemia, Hyperlipidemia, Hypoglycemic seizures, Hypothyroidism, Hyperchol... ORPHA:79259
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced radioactive iodine uptake, Increased circulating prolactin concentration, Overweight, Dec... ORPHA:99832
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Silver-Russell Syndrome
Insulin resistance, Failure to thrive in infancy, Recurrent hypoglycemia, Obesity, Precocious pub... ORPHA:813
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Lysinuric Protein Intolerance
Hepatic failure, Pancreatitis, Decreased response to growth hormone stimulation test, Hyperammone... ORPHA:470
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Obesity, Male hypogonadism, Elevated hepatic transaminase, Pancreatitis OMIM:619471
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly, Glucose intolerance, Hepatic f... OMIM:615630
Werner Syndrome
Lipodystrophy, Insulin resistance, Slender build, Lipoatrophy, Chondrocalcinosis, Type II diabete... ORPHA:902
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Failure to thrive, Neonatal insulin-dep... OMIM:260370
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Sp... OMIM:615947
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Leptin Receptor Deficiency
Delayed puberty, Obesity, Decreased response to growth hormone stimulation test, Diabetes mellitu... OMIM:614963
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Hypogonadism OMIM:615981
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Alstrom Syndrome
Hepatic steatosis, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Hepatomegaly, Hypergonad... OMIM:203800
Somatostatinoma
Abnormality of the thyroid gland, Primary hyperparathyroidism, Increased circulating prolactin co... ORPHA:97283
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Hyperlipidemia, Insulin resistance ORPHA:90153
Gitelman Syndrome
Diabetic ketoacidosis, Hypokalemia, Hypermagnesemia, Primary hyperaldosteronism, Insulin resistan... ORPHA:358
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Elevated circulating creatinine concentration, Insulin resistance, Hyperinsulinemia... ORPHA:230
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Congenital hypothyroidism, Decreased circulating T4 level, Prolonged n... ORPHA:226313
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98855
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Hyperlipidemia, Portal hypertension, Small fo... ORPHA:567983
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Rett Syndrome
Cholecystitis, Increased serum pyruvate, Increased serum leptin, Failure to thrive, Hyperammonemia ORPHA:778
Megalocornea-Mental Retardation Syndrome
Primary hypothyroidism, Hypercholesterolemia OMIM:249310
Atypical Werner Syndrome
Glycosuria, Hepatic steatosis, Decreased body weight, Hyperinsulinemia, Delayed puberty, Generali... ORPHA:79474
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Hypercholesterolemia ORPHA:2479
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Obesity, Diabetes mellitus OMIM:610628
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Hypogona... ORPHA:2234
X-Linked Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:261
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Pseudohypoparathyroidism, Enamel hypoplasia, Obesity, Hyperphosphatemia, Hypocalc... OMIM:612462
Macrocephaly/Autism Syndrome
Obesity, Splenomegaly, Hepatomegaly OMIM:605309
Bloom Syndrome
Insulin resistance, Small for gestational age, Adipose tissue loss, Diabetes mellitus, Abdominal ... ORPHA:125
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Hepatic failure, Papillary thyroid carcinoma, Cholestasis, Hyp... OMIM:118450
Senior-Loken Syndrome 9
Obesity, Hypogonadism, Hepatic fibrosis, Cholestasis OMIM:616629
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Hepatomegaly, Jaundice, Overwe... ORPHA:26793
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Pseudohypoparathyroidism, Enamel hypoplasia, Obesity, Hyperphosphatemia, Hypocalc... OMIM:103580
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Small for gestational age, Failure to thrive, Precociou... ORPHA:96182
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Obesity, Elevated circulating creatine kinase concentration, Left ve... OMIM:615418
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Steinert Myotonic Dystrophy
Cholelithiasis, Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Abnormality of thyroi... ORPHA:273
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Small for gestational age, Omphalocele, Overgrowth, Umbilical hernia ORPHA:254534
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Elevated circulating creatinine concentration, Cholestasis, Diabetes insipidus... OMIM:619534
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Obesity, Pituitary adenoma, Abdominal obesity, Glucose intolerance, Impaired glucose... OMIM:219090
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Atypical scarring of skin, Diabetes insipidus, Hypercholesterolemia, H... ORPHA:534
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:226307
Sotos Syndrome
Neonatal hypoglycemia, Prolonged neonatal jaundice, Overgrowth, Glucose intolerance, Tall stature... OMIM:117550
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Hypercholesterolemia, Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotei... OMIM:309000
Cushing Disease
Pituitary corticotropic cell adenoma, Increased urinary cortisol level, Dorsocervical fat pad, Tr... ORPHA:96253
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Hypoglycemia, Hyponatremia, Abnormal size of... ORPHA:91355
Alström Syndrome
Hepatic failure, Decreased circulating T4 level, Abnormal liver physiology, Hepatitis, Increased ... ORPHA:64
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, A... ORPHA:2235
Nestor-Guillermo Progeria Syndrome
Decreased serum leptin, Failure to thrive, Flexion contracture, Lipoatrophy OMIM:614008
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Flexion contracture, Premature pubarche, Central hypothyroidism, Failure t... ORPHA:398069
Joubert Syndrome 8
Obesity, Prolonged neonatal jaundice, Hepatomegaly OMIM:612291
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Pancreatic endocrine tumor, Increased circulating androgen concentrati... ORPHA:99889
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Insulin resistance, Severe failure to thrive, Absence of subcutaneous fat, P... ORPHA:740
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatoblastoma, Hypoglycemia, Hypothyroidism, Adrenocortical c... ORPHA:116
Pmm2-Cdg
Lipodystrophy, Hypogonadotropic hypogonadism, Insulin resistance, Hyperinsulinemia, Multiple join... ORPHA:79318
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with diffuse ... ORPHA:79102
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Carney Complex
Papillary thyroid carcinoma, Increased serum insulin-like growth factor 1, Dorsocervical fat pad,... ORPHA:1359
Acrodysostosis With Multiple Hormone Resistance
Pseudohypoparathyroidism, Hypocalcemia, Obesity, Congenital hypothyroidism, Hyperphosphatemia, Di... ORPHA:280651
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Hellp Syndrome
Elevated hepatic transaminase, Increased body weight ORPHA:244242
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
ORPHA:86923

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 Serpina12

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 Serpina12.

No publications found that use IMPC mice or data for Serpina12.

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MGI Allele Allele Type Produced
Serpina12tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Serpina12tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Serpina12tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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