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
abnormal forebrain morphology Pkmyt1em1(IMPC)J HOM E12.5 0.00
abnormal vocalization Pkmyt1em1(IMPC)J HET Early adult 2.41×10-10
preweaning lethality, complete penetrance Pkmyt1em1(IMPC)J HOM   Early adult 0.00
abnormal coat/ hair morphology Pkmyt1em1(IMPC)J HET Early adult 2.71×10-05
prenatal lethality prior to heart atrial septation Pkmyt1em1(IMPC)J HOM   E15.5 0.00
increased grip strength Pkmyt1em1(IMPC)J HET Early adult 2.59×10-06
pallor Pkmyt1em1(IMPC)J HOM E12.5 0.00
abnormal neural tube closure Pkmyt1em1(IMPC)J HOM E12.5 0.00
pale liver Pkmyt1em1(IMPC)J HOM E12.5 0.00

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
Matching phenotypes Source
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Hepatomegaly, Splenomegaly ORPHA:46532
Retinitis Pigmentosa 81
Pallor OMIM:617871
Retinitis Pigmentosa 60
Pallor OMIM:613983
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Optic Atrophy 9
Pallor OMIM:616289
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly ORPHA:228312
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Retinitis Pigmentosa 70
Pallor OMIM:615922
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Breath-Holding Spells
Pallor OMIM:607578
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Hepatomegaly, Splenomegaly OMIM:615234
Retinitis Pigmentosa 73
Pallor OMIM:616544
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Hb Bart'S Hydrops Fetalis
Pallor, Hydrocephalus, Hepatomegaly, Splenomegaly ORPHA:163596
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Retinitis Pigmentosa 27
Pallor OMIM:613750
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Hepatomegaly, Jaundice, Splenomegaly OMIM:615631
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Skin ulcer ORPHA:848
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Hepatomegaly, Jaundice OMIM:613839
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Elliptocytosis 1
Pallor, Jaundice, Splenomegaly OMIM:611804
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Pallor, Purpura, Splenomegaly OMIM:254450
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly, Focal pancreatic islet hyperplasia ORPHA:276575
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276556
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Cholecystitis, Jaundice OMIM:266200
Evans Syndrome
Pallor, Petechiae, Jaundice ORPHA:1959
Hepatomegaly, Splenomegaly, Pallor, Elevated hepatic transaminase, Skin ulcer ORPHA:507
Cold Agglutinin Disease
Pallor, Hepatomegaly, Splenomegaly ORPHA:56425
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276580
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Jaundice OMIM:194380
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Pallor, Cirrhosis, Hepatosp... ORPHA:231222
Primary Myelofibrosis
Petechiae, Hepatomegaly, Splenomegaly, Pallor, Hepatosplenomegaly, Purpura, Ecchymosis, Portal hy... ORPHA:824
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Hepatomegaly ORPHA:324575
Senior-Loken Syndrome 8
Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:616307
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:90037
Retinitis Pigmentosa 51
Pallor OMIM:613464
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
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Pallor, Elevated hepatic transaminase, Pancreat... ORPHA:263455
Retinitis Pigmentosa 75
Pallor OMIM:617023
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Hepatomegaly, Splenomegaly ORPHA:3226
Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:98375
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Jaundice, Splenomegaly ORPHA:90033
Acquired Idiopathic Sideroblastic Anemia
Pallor, Hepatomegaly, Splenomegaly ORPHA:75564
American Trypanosomiasis
Pallor, Hepatomegaly, Splenomegaly ORPHA:3386
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Skin ulcer, Jaundice ORPHA:822
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Idiopathic Pulmonary Hemosiderosis
Pallor, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Jaundice OMIM:246400
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Hepatomegaly OMIM:246450
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Dominant Beta-Thalassemia
Splenomegaly, Pallor, Cirrhosis, Chronic hepatitis, Hepatocellular carcinoma, Hepatosplenomegaly,... ORPHA:231226
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor, Jaundice, Splenomegaly, Prolonged neonatal jaundice OMIM:300908
Dravet Syndrome
Pallor ORPHA:33069
Beta-Thalassemia Major
Hepatomegaly, Splenomegaly, Pallor, Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Hepa... ORPHA:231214
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:348
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor, Elevated hepatic transaminase, Hepatosplenomegaly, Elevated hepatic iron concentration ORPHA:300298
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Fumarase Deficiency
Pallor, Cholestasis, Hepatic failure OMIM:606812
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Elevated hepatic transaminase ORPHA:98870
Sepsis In Premature Infants
Decreased liver function, Petechiae, Hepatomegaly, Splenomegaly, Pallor, Purpura, Jaundice ORPHA:90051
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly ORPHA:331206
Cone-Rod Dystrophy 8
Pallor OMIM:605549
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Tay-Sachs Disease
Pallor OMIM:272800
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Pallor, Pancreatic fibrosis, Er... OMIM:557000
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Pallor, Acute pancreatitis, Elevated hepatic tra... ORPHA:20
Waldenström Macroglobulinemia
Pallor, Purpura, Hepatomegaly, Splenomegaly ORPHA:33226
Beta-Ketothiolase Deficiency
Pallor, Hepatomegaly ORPHA:134
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Hepatomegaly, Splenomegaly ORPHA:98849
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Rare Circulatory System Disease
Pallor ORPHA:98028
Decreased liver function, Neural tube defect ORPHA:79321
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Aregenerative Anemia
Pallor ORPHA:101096
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Splenomegaly, Pallor, Chronic hepatitis, Hepatosplenomegaly, Elevated hepatic trans... ORPHA:3260
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Histiocytoid Cardiomyopathy
Pallor, Hydrocephalus, Hepatomegaly ORPHA:137675
Pallor ORPHA:95512
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Pallor ORPHA:95513
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Pallor ORPHA:2965
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Autosomal Recessive Malignant Osteopetrosis
Pallor, Hydrocephalus, Hepatomegaly, Splenomegaly ORPHA:667
Incontinentia Pigmenti
Pallor, Erythema OMIM:308300
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Multiple Endocrine Neoplasia Type 2
Pallor, Neoplasm of the liver ORPHA:653
Degcags Syndrome
Hepatomegaly, Pallor, Abnormal spleen morphology, Hepatosplenomegaly, Cholestasis OMIM:619488
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pallor, Pancreatic cysts, Pancreatic islet cell adenoma ORPHA:892
Fanconi Anemia, Complementation Group D2
Annular pancreas, Hydrocephalus, Anemic pallor OMIM:227646
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Infection-Related Hemolytic Uremic Syndrome
Pallor, Pancreatitis ORPHA:544482
Esophageal Atresia
Pallor ORPHA:1199
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Hydrocephalus OMIM:253280
Fanconi Anemia, Complementation Group C
Anemic pallor OMIM:227645
Diamond-Blackfan Anemia 1
Pallor OMIM:105650
Blackfan-Diamond Anemia
Pallor ORPHA:124
Schinzel-Giedion Syndrome
Annular pancreas, Hepatoblastoma, Neural tube defect, Umbilical hernia ORPHA:798
Goodpasture Syndrome
Pallor OMIM:233450
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


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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