Gene Summary

Name:
SET and MYND domain containing 4
Synonyms:
G430029E23Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating glucose level Smyd4tm1a(EUCOMM)Wtsi HOM Early adult 8.07×10-05
abnormal behavior Smyd4tm1a(EUCOMM)Wtsi HOM Early adult 2.47×10-08
increased circulating glycerol level Smyd4tm1a(EUCOMM)Wtsi HOM   Early adult 3.27×10-05
increased circulating free fatty acids level Smyd4tm1a(EUCOMM)Wtsi HOM Early adult 7.64×10-05
increased circulating bilirubin level Smyd4tm1a(EUCOMM)Wtsi HOM Early adult 7.26×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 3)
Bone N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 100% (3 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 66.67% (2 of 3)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote 100% (3 of 3)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 66.67% (2 of 3)
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 33.33% (1 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 100% (3 of 3)
Peripheral nervous system N/A heterozygote 100% (3 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote 33.33% (1 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 66.67% (2 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 0.0% (0 of 3)
Spinal cord N/A heterozygote 100% (3 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 66.67% (2 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

View all 76 images

Human diseases caused by Smyd4 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 Smyd4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:620010
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car... ORPHA:71212
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hypoglycemia, Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hyperinsulinemia, Insulin resistance, Increased circulating free fatty acid... ORPHA:2457
Hemochromatosis, Type 1
Azoospermia, Impotence, Hypogonadotropic hypogonadism, Amenorrhea, Diabetes mellitus, Testicular ... OMIM:235200
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,... OMIM:620211
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Hypoketotic hypoglycemia OMIM:610768
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper... OMIM:615160
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase con... ORPHA:26793
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Decreased circulating cortisol level, Hypoglycemic seizures OMIM:609734
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Hypothyroidism, Diabetes mellitus, Amenorrhe... ORPHA:465508
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperglutaminemia, Hyperprolinemia OMIM:616299
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration OMIM:616278
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:613986
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia ORPHA:6
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Increased circulating ferritin concentration, Hyperhomocystinemia OMIM:601775
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Hypermethionine... OMIM:614300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... ORPHA:766
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Hypoglycemia, Conjugated hy... OMIM:617049
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
46,Xy Sex Reversal 8
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism OMIM:614279
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea OMIM:235555
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic iron concentration, Increased circulating ferritin concentration, Type II diabet... OMIM:616860
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Fasting hypoglycemia, Hypouricemia, Hyperbi... OMIM:227810
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Steatorrhea, Abnormal serum bile acid concentration, Conjugated hyperbilirubi... ORPHA:79303
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Hypoglycemia OMIM:619075
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Fasting hypoglycemia, Hyperuricemia, Hyperalaninemia, Neonatal hyperbiliru... ORPHA:348
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypoglycemi... OMIM:617156
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia ORPHA:73272
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Propionic Acidemia
Hyperammonemia, Hypoglycemia ORPHA:35
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co... OMIM:608836
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Mitchell-Riley Syndrome
Hyperbilirubinemia, Diabetes mellitus, Hyperglycemia OMIM:615710
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia, Neonatal insulin-dependent dia... ORPHA:1667
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells ORPHA:3063
Glycogen Storage Disease Vii
Increased total bilirubin, Elevated circulating creatine kinase concentration, Hyperuricemia OMIM:232800
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia ORPHA:664
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hypoglycemia OMIM:617093
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia OMIM:613280
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hypoglycemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concent... OMIM:251880
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Steatorrhea OMIM:613812
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Glycosuria, Conjugated hyperbilirubinemia OMIM:613404
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor... ORPHA:273
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... OMIM:618838
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Ab... ORPHA:14
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Lathosterolosis
Hyperammonemia, Elevated circulating lathosterol concentration, Hyperbilirubinemia OMIM:607330
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:613673
Fetal Cytomegalovirus Syndrome
Conjugated hyperbilirubinemia ORPHA:294
Dehydrated Hereditary Stomatocytosis
Abnormal blood potassium concentration, Increased circulating ferritin concentration, Increased t... ORPHA:3202
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Glycosuria, Hypophosphatemia, Hypoglycemia OMIM:229600
Hereditary Elliptocytosis
Hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:288
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Glycogen Storage Disease Xii
Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration OMIM:611881
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... OMIM:615751
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia, Steatorrhea, Type I diabetes mellitus OMIM:557000
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Conjugated hyperbilirubinemia... ORPHA:186
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:90673
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated circulating phytanic acid concentration, Increased circulating very long-chain fatty aci... OMIM:614866
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Glycosuria, ... OMIM:277900
Reynolds Syndrome
Hyperbilirubinemia, Steatorrhea, Calcinosis OMIM:613471
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Neurooculorenal Syndrome
Decreased circulating cortisol level, Conjugated hyperbilirubinemia, Recurrent hypoglycemia OMIM:620305
Isolated Biliary Atresia
Xanthelasma, Conjugated hyperbilirubinemia ORPHA:30391
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Ogden Syndrome
Hyperbilirubinemia, Maternal diabetes OMIM:300855
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Hypoglycemia, Unconjugated hyperbilirubinemia OMIM:613658
Caroli Disease
Conjugated hyperbilirubinemia ORPHA:53035
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin concentration, Hyperbilirubinemia OMIM:218700
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia OMIM:619475
Liver Disease, Severe Congenital
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,... OMIM:619991
Cranioectodermal Dysplasia 2
Hyperbilirubinemia OMIM:613610
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Degcags Syndrome
Hyperbilirubinemia OMIM:619488
Hardikar Syndrome
Hyperbilirubinemia OMIM:301068
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... ORPHA:79277
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, Glycos... ORPHA:447
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ... ORPHA:99829
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... OMIM:619534
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia OMIM:620376
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Unconjugated hyperbilirubinemia OMIM:620186
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Johanson-Blizzard Syndrome
Hypocalcemia, Diabetes mellitus, Conjugated hyperbilirubinemia, Increased VLDL cholesterol concen... OMIM:243800

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.

Phenotype Allele Zygosity Sex Life Stage
Testes - process of degenerative change Smyd4tm1a(EUCOMM)Wtsi HOM Early adult

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 Smyd4.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Smyd4tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Smyd4tm2a(EUCOMM)Wtsi PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Smyd4tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Smyd4tm338(pL1L2_GT2_DelLacZ_bsd) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Smyd4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Smyd4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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