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Gene: Sat1 MGI:98233

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
spermidine/spermine N1-acetyl transferase 1
Synonyms:
N/A

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Sat1 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 Sat1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pediatric Systemic Lupus Erythematosus
Increased circulating lactate dehydrogenase concentration ORPHA:93552

The table below shows human diseases predicted to be associated to Sat1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Irregular menst... OMIM:615238
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista... ORPHA:79085
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435660
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Decreased testicular size OMIM:614962
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... ORPHA:280365
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... OMIM:615381
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... OMIM:608594
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Lipodystrophy, ... OMIM:269700
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... OMIM:619484
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... ORPHA:69663
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circula... OMIM:235555
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... ORPHA:2298
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Jaun... ORPHA:30391
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Decreased fumarate hydratase activity, Intrahepatic cholesta... OMIM:606812
Atypical Werner Syndrome
Hepatic steatosis, Decreased body weight, Diabetes mellitus, Lipoatrophy, Premature ovarian insuf... ORPHA:79474
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity OMIM:277410
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hepatomegaly OMIM:251110
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Friedreich Ataxia
Diabetes mellitus, Decreased pyruvate carboxylase activity OMIM:229300
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hepatomegaly OMIM:251100
Rett Syndrome
Failure to thrive, Cholecystitis, Increased serum leptin ORPHA:778
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin OMIM:614008
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Hepatomegaly, Failure to thrive, Hepatic failure ORPHA:255210
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Decreased methionine synthase act... OMIM:277400
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Weight loss, Severe fai... ORPHA:740
Friedreich Ataxia 2
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity OMIM:601992
Pediatric Systemic Lupus Erythematosus
Increased circulating lactate dehydrogenase concentration ORPHA:93552

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 Sat1

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 Sat1.

No publications found that use IMPC mice or data for Sat1.

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MGI Allele Allele Type Produced
Sat1tm297174(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sat1tm380477(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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