Not currently registered for phenotyping at IMPC

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

Gene Summary

U2AF homology motif (UHM) kinase 1
OTTMUSG00000021542,  Kist,  KIS,  C820018A03Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Uhmk1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Uhmk1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Myocardial infarction OMIM:608320
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris OMIM:614025
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations ORPHA:488650
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hypertension, Hyperuricemia ORPHA:77296
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... ORPHA:567548
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Hypercholesterolemia, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... ORPHA:86816
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia OMIM:616730
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Hypercholesterolemia, Hypertrophic cardiomyopathy... ORPHA:528
Laron Syndrome
Hypercholesterolemia ORPHA:633
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Increased LDL cho... ORPHA:412
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... OMIM:619662
Hypercholesterolemia ORPHA:263501
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Portal hypertension, Increased LDL... OMIM:278000
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia ORPHA:79237
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Dilated cardiomyopathy OMIM:618348
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blo... ORPHA:90041
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral reg... ORPHA:363618
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, C... ORPHA:264580
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Hypertension ORPHA:69663
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Brad... ORPHA:90674
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Hypovolemia, Xanthelasma, Pulmonary arterial hy... ORPHA:275761
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hypertension OMIM:151660
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Epistaxis, Hyperlipidemia, Xanthelasma, Hypertension, Pulmonary venous hype... ORPHA:79259
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Immunodeficiency 47
Hypercholesterolemia, Tricuspid regurgitation, Decreased circulating copper concentration OMIM:300972
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Heart murmur, Incre... ORPHA:391665
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Hypertension, Pulmonary arterial hypertension, Hyp... OMIM:606721
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle OMIM:227646
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... OMIM:619534


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 Uhmk1

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 Uhmk1.

No publications found that use IMPC mice or data for Uhmk1.

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MGI Allele Allele Type Produced
Uhmk1tm55407(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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