Gene Summary

protein kinase, membrane associated tyrosine/threonine 1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
pallor Pkmyt1em1(IMPC)J HOM E12.5 0.00
preweaning lethality, complete penetrance Pkmyt1em1(IMPC)J HOM   Early adult 0.00
abnormal forebrain morphology Pkmyt1em1(IMPC)J HOM E12.5 0.00
abnormal neural tube closure Pkmyt1em1(IMPC)J HOM E12.5 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
increased grip strength Pkmyt1em1(IMPC)J HET Early adult 1.95×10-06
pale liver Pkmyt1em1(IMPC)J HOM E12.5 0.00

Download data as:  TSV  XLS

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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.

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
Matching phenotypes Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Pallor 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
Elevated hepatic transaminase, Splenomegaly, Pallor ORPHA:75563
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Hydrocephalus, Pallor ORPHA:163596
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Pallor OMIM:613561
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Hemoglobin D Disease
Splenomegaly, Pallor ORPHA:90039
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Hepatomegaly, Jaundice, Pallor OMIM:615631
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis ORPHA:848
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Splenomegaly, Pallor, Purpura OMIM:254450
Elliptocytosis 1
Splenomegaly, Jaundice, Pallor OMIM:611804
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly ORPHA:276575
Evans Syndrome
Jaundice, Pallor, Petechiae ORPHA:1959
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276556
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Hepatomegaly, Pallor, Elevated hepatic iron concentration OMIM:615234
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Pallor, Cholelithiasis OMIM:266200
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor ORPHA:507
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A... ORPHA:231222
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Pallor ORPHA:56425
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276580
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis OMIM:194380
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia... ORPHA:824
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pallor OMIM:613839
Retinitis Pigmentosa 51
Pallor OMIM:613464
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Pallor 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
Splenomegaly, Hepatomegaly, Pallor ORPHA:3226
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... ORPHA:263455
Acquired Idiopathic Sideroblastic Anemia
Splenomegaly, Hepatomegaly, Pallor ORPHA:75564
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Jaundice, Pallor ORPHA:90033
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor OMIM:246450
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Pallor, Hepatosplenomegaly ORPHA:99931
American Trypanosomiasis
Splenomegaly, Hepatomegaly, Pallor ORPHA:3386
Hereditary Spherocytosis
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis ORPHA:822
Letterer-Siwe Disease
Jaundice, Pallor, Hepatosplenomegaly OMIM:246400
Dominant Beta-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Chronic hepatitis, Hepatosplenomegaly, Hepatic... ORPHA:231226
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Dravet Syndrome
Pallor ORPHA:33069
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Congenital Heart Block
Pallor ORPHA:60041
Retinitis Pigmentosa 75
Pallor OMIM:617023
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice OMIM:300908
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Beta-Thalassemia Major
Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, Hepatic fibr... ORPHA:231214
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly ORPHA:300298
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor ORPHA:348
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Pallor ORPHA:98870
Sepsis In Premature Infants
Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Pallor, Petechiae, Purpura ORPHA:90051
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly ORPHA:331206
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Tay-Sachs Disease
Pallor OMIM:272800
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... ORPHA:20
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Macronodular cirrhosi... OMIM:557000
Waldenström Macroglobulinemia
Splenomegaly, Hepatomegaly, Pallor, Purpura ORPHA:33226
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Beta-Ketothiolase Deficiency
Hepatomegaly, Pallor ORPHA:134
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Hepatomegaly, Pallor ORPHA:98849
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Pallor OMIM:606812
Neural tube defect, Decreased liver function ORPHA:79321
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Aregenerative Anemia
Pallor ORPHA:101096
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Cholangitis, Splenomegaly, Chronic hepatitis, Hepatosplenomegaly, ... ORPHA:3260
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Pallor ORPHA:95512
Histiocytoid Cardiomyopathy
Hepatomegaly, Hydrocephalus, Pallor ORPHA:137675
Pallor ORPHA:95513
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Pallor ORPHA:2965
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hepatomegaly, Hydrocephalus, Pallor ORPHA:667
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts ORPHA:892
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemic pallor, Hydrocephalus OMIM:227646
Degcags Syndrome
Hepatomegaly, Cholestasis, Hepatosplenomegaly, Abnormal spleen morphology, Pallor OMIM:619488
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor ORPHA:653
Diamond-Blackfan Anemia 1
Spina bifida occulta, Pallor 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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Pallor OMIM:253280
Diamond-Blackfan Anemia
Pallor ORPHA:124
Schinzel-Giedion Syndrome
Hepatoblastoma, Umbilical hernia, Annular pancreas, Neural tube defect ORPHA:798
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor ORPHA:99125
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93924


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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