Gene Summary

Name:
protein kinase, membrane associated tyrosine/threonine 1
Synonyms:
Myt1

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
abnormal forebrain morphology Pkmyt1em1(IMPC)J HOM E12.5 0.00
pale liver Pkmyt1em1(IMPC)J HOM E12.5 0.00
increased grip strength Pkmyt1em1(IMPC)J HET Early adult 1.95×10-06
pallor Pkmyt1em1(IMPC)J HOM E12.5 0.00
abnormal neural tube closure Pkmyt1em1(IMPC)J HOM E12.5 0.00
preweaning lethality, complete penetrance Pkmyt1em1(IMPC)J HOM   Early adult 0.00
abnormal vocalization Pkmyt1em1(IMPC)J HET Early adult 2.42×10-10
prenatal lethality prior to heart atrial septation Pkmyt1em1(IMPC)J HOM   E15.5 0.00
abnormal coat/ hair morphology Pkmyt1em1(IMPC)J HET Early adult 2.71×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

Human diseases caused by Pkmyt1 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 Pkmyt1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Hepatomegaly, Splenomegaly ORPHA:46532
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Peripheral Cone Dystrophy
Pallor OMIM:609021
Breath-Holding Spells
Pallor OMIM:607578
X-Linked Sideroblastic Anemia
Pallor, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pallor, Hepatomegaly, Splenomegaly ORPHA:163596
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:613561
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Jaundice, Splenomegaly, Hepatomegaly OMIM:615631
Beta-Thalassemia
Skin ulcer, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Hepatitis ORPHA:848
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Optic Atrophy 1
Pallor OMIM:165500
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Myelofibrosis
Splenomegaly, Purpura, Hepatomegaly, Pallor OMIM:254450
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Elliptocytosis 1
Pallor, Jaundice, Splenomegaly OMIM:611804
Evans Syndrome
Petechiae, Pallor, Jaundice ORPHA:1959
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Focal pancreatic islet hyperplasia, Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276575
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276556
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Cholecystitis OMIM:266200
Leishmaniasis
Skin ulcer, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splenomegaly, ... ORPHA:507
Primary Myelofibrosis
Purpura, Hepatomegaly, Petechiae, Portal hypertension, Ecchymosis, Splenomegaly, Hepatosplenomega... ORPHA:824
Cold Agglutinin Disease
Pallor, Hepatomegaly, Splenomegaly ORPHA:56425
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Skin ulcer, Hepatomegaly, Cholelithiasis, Hepatoce... ORPHA:231222
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276580
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Hepatitis OMIM:194380
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated hepatic iron concentration, Pallor, Hepatomegaly, Splenomegaly OMIM:615234
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Hepatomegaly ORPHA:324575
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Senior-Loken Syndrome 8
Hepatic cysts, Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Jaundice, Hepatomegaly OMIM:613839
Retinitis Pigmentosa 51
Pallor OMIM:613464
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:90037
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Hepatomegaly, Splenomegaly ORPHA:3226
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... ORPHA:263455
Acquired Idiopathic Sideroblastic Anemia
Pallor, Hepatomegaly, Splenomegaly ORPHA:75564
Idiopathic Pulmonary Hemosiderosis
Pallor, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Jaundice, Splenomegaly ORPHA:90033
American Trypanosomiasis
Pallor, Hepatomegaly, Splenomegaly ORPHA:3386
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Skin ulcer, Hepatocellular carcinoma, Hepatic fibrosis, Chronic hepatitis, H... ORPHA:231226
Hereditary Spherocytosis
Jaundice, Skin ulcer, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor ORPHA:822
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Dravet Syndrome
Pallor ORPHA:33069
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Letterer-Siwe Disease
Pallor, Jaundice, Hepatosplenomegaly OMIM:246400
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Congenital Heart Block
Pallor ORPHA:60041
Retinitis Pigmentosa 75
Pallor OMIM:617023
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Pallor, Jaundice, Splenomegaly OMIM:300908
Beta-Thalassemia Major
Cirrhosis, Jaundice, Skin ulcer, Hepatomegaly, Hepatocellular carcinoma, Hepatic fibrosis, Hepato... ORPHA:231214
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic iron concentration, Pallor, Elevated circulating hepatic transaminase concentrat... ORPHA:300298
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:348
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Elevated circulating hepatic transaminase concentration ORPHA:98870
Sepsis In Premature Infants
Decreased liver function, Purpura, Jaundice, Hepatomegaly, Petechiae, Splenomegaly, Pallor ORPHA:90051
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly ORPHA:331206
Tay-Sachs Disease
Pallor OMIM:272800
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Rheumatic Fever
Pallor, Erythema ORPHA:3099
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circu... OMIM:246450
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute pancreatit... ORPHA:20
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macronodular cirrhosis, Ex... OMIM:557000
Waldenström Macroglobulinemia
Splenomegaly, Purpura, Hepatomegaly, Pallor ORPHA:33226
Beta-Ketothiolase Deficiency
Pallor, Hepatomegaly ORPHA:134
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Childhood Absence Epilepsy
Pallor ORPHA:64280
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Fumarase Deficiency
Pallor, Intrahepatic cholestasis, Hepatic failure OMIM:606812
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Hepatomegaly, Splenomegaly ORPHA:98849
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Pallor, Hepatomegaly OMIM:277400
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Alg3-Cdg
Decreased liver function, Neural tube defect ORPHA:79321
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Pallor OMIM:301310
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentration, Pancreatit... ORPHA:3260
Aregenerative Anemia
Pallor ORPHA:101096
Adenohypophysitis
Pallor ORPHA:95512
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Histiocytoid Cardiomyopathy
Hydrocephalus, Pallor, Hepatomegaly ORPHA:137675
Panhypophysitis
Pallor ORPHA:95513
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Pituitary Apoplexy
Pallor ORPHA:95613
Prolactinoma
Pallor ORPHA:2965
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Pallor, Hepatomegaly, Splenomegaly ORPHA:667
Incontinentia Pigmenti
Pallor, Erythema OMIM:308300
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Von Hippel-Lindau Disease
Pallor, Neoplasm of the pancreas, Pancreatic cysts, Pancreatic islet cell adenoma ORPHA:892
Degcags Syndrome
Hepatomegaly, Cholestasis, Abnormal spleen morphology, Hepatosplenomegaly, Pallor OMIM:619488
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Anemic pallor, Annular pancreas OMIM:227646
Neuroblastoma
Anemic pallor ORPHA:635
Multiple Endocrine Neoplasia Type 2
Pallor, Neoplasm of the liver ORPHA:653
Diamond-Blackfan Anemia 1
Pallor, Spina bifida occulta OMIM:105650
Esophageal Atresia
Pallor ORPHA:1199
Infection-Related Hemolytic Uremic Syndrome
Pallor, Pancreatitis ORPHA:544482
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Fanconi Anemia, Complementation Group C
Anemic pallor OMIM:227645
Diamond-Blackfan Anemia
Pallor ORPHA:124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Pallor OMIM:253280
Goodpasture Syndrome
Pallor OMIM:233450
Schinzel-Giedion Syndrome
Hepatoblastoma, Annular pancreas, Neural tube defect, Umbilical hernia ORPHA:798
Congenital Total Pulmonary Venous Return Anomaly
Pallor, Hepatomegaly ORPHA:99125
Semilobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93924

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 Pkmyt1

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 Pkmyt1.

No publications found that use IMPC mice or data for Pkmyt1.

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MGI Allele Allele Type Produced
Pkmyt1tm267248(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pkmyt1em1(IMPC)J Exon Deletion Mice

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