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Gene: Mx2 MGI:97244

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Gene Summary

Name:
MX dynamin-like GTPase 2
Synonyms:
Mx-2

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating bilirubin level Mx2em1(IMPC)Ics HOM Early adult 6.19×10-11
abnormal startle reflex Mx2em1(IMPC)Ics HOM Early adult 7.00×10-14
abnormal retina inner nuclear layer morphology Mx2em1(IMPC)Ics HOM Early adult 7.54×10-05
abnormal vitreous body morphology Mx2em1(IMPC)Ics HOM Early adult 5.25×10-11

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Mx2 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 Mx2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
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
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
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
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Malaria
Retinopathy, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:620010
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Retinal degeneration, Neonatal hyperbilirubinemia, Pigmentary retinopathy ORPHA:3363
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Dystonia, Hyperglutaminemia OMIM:616299
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor, Retinal dystrophy ORPHA:713
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
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
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Increased circulating ferritin concentration, Hyperhomocystinemia OMIM:601775
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Unconjugated hyperbilirubinemia, Dystonia, Hyperma... OMIM:613280
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Chorioretinal coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Hypermethionine... OMIM:614300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... ORPHA:766
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Fetal Cytomegalovirus Syndrome
Optic atrophy, Conjugated hyperbilirubinemia, Chorioretinitis, Retinal hemorrhage ORPHA:294
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Opisthotonus, Increased serum bile acid concentration OMIM:619685
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Tremor, Increased serum bile acid concentration ORPHA:69665
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Abnormal serum bile acid concentration, Conjugated hyperbilirubinemia ORPHA:79303
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Exaggerated startle response, Optic disc pallor OMIM:609541
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Exaggerated startle response, Optic disc pallor ORPHA:320406
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Tremor, Increased serum pyruvate,... ORPHA:3008
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Glycogen Storage Disease Vii
Increased total bilirubin, Elevated circulating creatine kinase concentration, Hyperuricemia OMIM:232800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic iron concentration, Increased circulating ferritin concentration, Conjugated hyp... OMIM:616860
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Microphthalmia/Coloboma 12
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... OMIM:120200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Abnormal circul... ORPHA:14
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia OMIM:617049
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
Wolcott-Rallison Syndrome
Hyperammonemia, Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Gm2 Gangliosidosis, Ab Variant
Dystonia, Cherry red spot of the macula, Exaggerated startle response ORPHA:309246
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co... OMIM:608836
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Optic atrophy, Increased circulating very long-chain fatty acid concentrat... OMIM:614866
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Hyperbilirubinemia, Hypocalcemia, Optic disc pallor OMIM:259720
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Exaggerated startle response OMIM:616881
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia ORPHA:95232
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia OMIM:613812
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:613673
Dehydrated Hereditary Stomatocytosis
Abnormal blood potassium concentration, Increased circulating ferritin concentration, Increased t... ORPHA:3202
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Lathosterolosis
Hyperammonemia, Elevated circulating lathosterol concentration, Hyperbilirubinemia OMIM:607330
Fumarase Deficiency
Optic atrophy, Hyperbilirubinemia OMIM:606812
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Vitreous hemorrhage, Hyperbilirubinemia, Retinal hemorrhage ORPHA:464321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal dysplasia, Retinal detachment, Elevated circulating creatine kinase concen... OMIM:253800
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Tremor, Limb... OMIM:277900
Hereditary Elliptocytosis
Hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:288
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachment, Hyaloid vas... ORPHA:91495
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Glycogen Storage Disease Xii
Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration OMIM:611881
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response ORPHA:309155
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Exaggerated startle response OMIM:617864
Tay-Sachs Disease
Optic atrophy, Increased serum beta-hexosaminidase, Tremor, Exaggerated startle response, Dystoni... ORPHA:845
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:90673
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration, Conjugated hyperbilirubinemia OMIM:208500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina... OMIM:614643
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Torticollis, Hyperbilirubinemia, Intention tremor, Head titubation, Dystonia, C... OMIM:619475
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Asparagine Synthetase Deficiency
Optic nerve hypoplasia, Tremor, Hypoasparaginemia, Exaggerated startle response OMIM:615574
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Exaggerated startle response OMIM:617281
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypercholesterolemia, Conjugated hyper... ORPHA:186
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Ogden Syndrome
Hyperbilirubinemia, Torticollis OMIM:300855
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia OMIM:229600
Pierson Syndrome
Retinal detachment, Hypoproteinemia, Remnants of the hyaloid vascular system, Retinal hemorrhage,... OMIM:609049
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Exaggerated startle response ORPHA:521426
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia OMIM:557000
Sandhoff Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:268800
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Hardikar Syndrome
Hyperbilirubinemia, Pigmentary retinopathy OMIM:301068
Caroli Disease
Conjugated hyperbilirubinemia ORPHA:53035
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin concentration, Hyperbilirubinemia OMIM:218700
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Cranioectodermal Dysplasia 2
Hyperbilirubinemia OMIM:613610
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycinemia, Dystonia, Exaggerated startle response, Hypernatremia OMIM:620423
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Reynolds Syndrome
Hyperbilirubinemia, Calcinosis OMIM:613471
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Unconjugated hyperbilirubinemia OMIM:618278
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Liver Disease, Severe Congenital
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,... OMIM:619991
Degcags Syndrome
Hyperbilirubinemia OMIM:619488
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Exaggerated startle response ORPHA:79255
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Optic disc coloboma, Unconjugated hyperbilirubinemia OMIM:620186
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia OMIM:613658
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... ORPHA:79277
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia OMIM:620305
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ... ORPHA:99829
Congenital Disorder Of Glycosylation, Type Iim
Rod-cone dystrophy, Neonatal hyperbilirubinemia OMIM:300896
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia OMIM:620376
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system OMIM:620185
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... OMIM:619534
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Epiretinal membrane, Abnormal optic nerve morphology, Remnants of the hyaloid ... ORPHA:637
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Reduced haptoglobin level, Decreased circulating iron concentratio... ORPHA:447
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Remnants of the hyaloid vascular system OMIM:603671
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Exaggerated startle response, Decreased circulating iron concentration, Optic disc pallor ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Norrie Disease
Optic atrophy, Abnormal chorioretinal morphology, Abnormal vitreous humor morphology, Retinal det... ORPHA:649
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system OMIM:300166
Johanson-Blizzard Syndrome
Hypocalcemia, Conjugated hyperbilirubinemia, Increased VLDL cholesterol concentration OMIM:243800
Neuroocular Syndrome
Hypoplasia of the fovea, Remnants of the hyaloid vascular system OMIM:619539
Holoprosencephaly 2
Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Mx2

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 Mx2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ProMetIS, deep phenotyping of mouse models by combined proteomics and metabolomics analysis. Scientific data (December 2021) Mx2em1(IMPC)Ics 34862403

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MGI Allele Allele Type Produced
Mx2em1(IMPC)Ics Deletion Mice

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