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
prenatal lethality prior to heart atrial septation Pkmyt1em1(IMPC)J HOM   E15.5 0.00
preweaning lethality, complete penetrance Pkmyt1em1(IMPC)J HOM   Early adult 0.00
pale liver Pkmyt1em1(IMPC)J HOM E12.5 0.00
pallor Pkmyt1em1(IMPC)J HOM E12.5 0.00
abnormal forebrain morphology Pkmyt1em1(IMPC)J HOM E12.5 0.00
abnormal vocalization Pkmyt1em1(IMPC)J HET Early adult 2.37×10-10
abnormal neural tube closure Pkmyt1em1(IMPC)J HOM E12.5 0.00
abnormal coat/ hair morphology Pkmyt1em1(IMPC)J HET Early adult 2.69×10-05
increased grip strength Pkmyt1em1(IMPC)J HET Early adult 6.14×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
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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
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Retinitis Pigmentosa 81
Pallor OMIM:617871
Retinitis Pigmentosa 60
Pallor OMIM:613983
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
Optic Atrophy 9
Pallor OMIM:616289
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
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
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Retinitis Pigmentosa 70
Pallor OMIM:615922
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Cerebral atrophy, Secondary microcephaly, Pallor, Jaundice OMIM:613839
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Breath-Holding Spells
Pallor OMIM:607578
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Pallor, Splenomegaly ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Pallor, Splenomegaly OMIM:615234
Primary Lateral Sclerosis, Juvenile
Pallor, Cerebral cortical atrophy OMIM:606353
Familial Focal Epilepsy With Variable Foci
Hemimegalencephaly, Focal cortical dysplasia, Pallor, Polymicrogyria ORPHA:98820
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Kcnq2-Related Epileptic Encephalopathy
Abnormal globus pallidus morphology, Abnormal cerebral white matter morphology, Cerebral edema, H... ORPHA:439218
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Retinitis Pigmentosa 73
Pallor OMIM:616544
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pallor, Hydrocephalus, 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
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Hepatomegaly, Pallor, Splenomegaly OMIM:615631
Beta-Thalassemia
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Pallor, Skin ulcer ORPHA:848
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Elliptocytosis 1
Jaundice, Pallor, Splenomegaly OMIM:611804
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Spontaneous Periodic Hypothermia
Pallor, Aplasia/Hypoplasia of the corpus callosum ORPHA:29822
Senior-Loken Syndrome 8
Hepatic cysts, Pallor, Pancreatic cysts OMIM:616307
Myelofibrosis
Pallor, Purpura, Splenomegaly OMIM:254450
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly, Focal pancreatic islet hyperplasia ORPHA:276575
Myoclonus, Intractable, Neonatal
Pallor, Progressive leukoencephalopathy, Microcephaly OMIM:617235
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276556
Evans Syndrome
Pallor, Petechiae, Jaundice ORPHA:1959
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Cyclic Vomiting Syndrome
Pallor, Microcephaly OMIM:500007
Cold Agglutinin Disease
Hepatomegaly, Pallor, Splenomegaly ORPHA:56425
Leishmaniasis
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Pallor, Skin ulcer ORPHA:507
Fumarase Deficiency
Open operculum, Polymicrogyria, Cholestasis, Hepatic failure, Cerebral atrophy, Pallor, Agenesis ... OMIM:606812
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, Hepatitis, Cholelithiasis, Splenomegaly, Pallor, Jaundice OMIM:194380
Aplasia Cutis Congenita
Spinal dysraphism, Skin ulcer ORPHA:1114
Primary Myelofibrosis
Ecchymosis, Hepatomegaly, Petechiae, Splenomegaly, Hepatosplenomegaly, Purpura, Pallor, Portal hy... ORPHA:824
Beta-Thalassemia Intermedia
Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Cholelithiasis, Sple... ORPHA:231222
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Microcephaly, Abnormal cerebral white matter morphology OMIM:246450
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Microcephaly OMIM:600462
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:90037
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Alg3-Cdg
Neural tube defect, Cerebral white matter atrophy, Abnormal cerebral morphology, Subcortical cere... ORPHA:79321
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor OMIM:611590
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Pancreatic islet-cell hyperplasia, Elevated hep... ORPHA:263455
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Decreased response to growth hormone stimulation test, Pa... OMIM:609053
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Pituitary hypoth... ORPHA:95513
Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:98375
Retinitis Pigmentosa 51
Pallor OMIM:613464
Dominant Beta-Thalassemia
Hepatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Hypersplenism, Hepatosplenom... ORPHA:231226
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:3226
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Pallor, Splenomegaly ORPHA:90033
Retinitis Pigmentosa 75
Pallor OMIM:617023
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Pallor, Splenomegaly ORPHA:75564
Adenohypophysitis
Abnormal size of pituitary gland, Pituitary hypothyroidism, Secondary growth hormone deficiency, ... ORPHA:95512
Hereditary Spherocytosis
Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Skin ulcer, Jaundice ORPHA:822
American Trypanosomiasis
Hepatomegaly, Pallor, Splenomegaly ORPHA:3386
Dravet Syndrome
Pallor, Dysgenesis of the hippocampus ORPHA:33069
Beta-Thalassemia Major
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Hypersplenism,... ORPHA:231214
Pituitary Apoplexy
Increased circulating prolactin concentration, Pituitary hypothyroidism, Abnormal caudate nucleus... ORPHA:95613
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Pallor ORPHA:99931
Letterer-Siwe Disease
Hepatosplenomegaly, Pallor, Jaundice OMIM:246400
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Non-Functioning Pituitary Adenoma
Adrenocorticotropic hormone deficiency, Pituitary hypothyroidism, Secondary growth hormone defici... ORPHA:91349
Rheumatic Fever
Hemiballismus, Pallor, Erythema ORPHA:3099
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Hepatosplenomegaly, Pallor, Elevated hepatic iron concentration ORPHA:300298
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Pallor, Hepatomegaly ORPHA:348
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Lipid accumulation in hepatocytes, Leukoencephalopathy, Acute pancreatitis, Elevate... ORPHA:20
Hereditary Folate Malabsorption
Pallor, Cerebral calcification ORPHA:90045
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Pallor, Splenomegaly OMIM:300908
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Pallor ORPHA:98870
Sheehan Syndrome
Abnormal size of pituitary gland, Pituitary hypothyroidism, Secondary growth hormone deficiency, ... ORPHA:91355
Sepsis In Premature Infants
Hepatomegaly, Petechiae, Splenomegaly, Decreased liver function, Purpura, Pallor, Jaundice ORPHA:90051
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Pallor ORPHA:331206
Cone-Rod Dystrophy 8
Pallor OMIM:605549
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Tay-Sachs Disease
Pallor OMIM:272800
Prolactinoma
Adrenocorticotropic hormone deficiency, Pituitary hypothyroidism, Secondary growth hormone defici... ORPHA:2965
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Myopathy, Mitochondrial, And Ataxia
Pallor, Increased circulating prolactin concentration OMIM:617675
Waldenström Macroglobulinemia
Hepatomegaly, Pallor, Purpura, Splenomegaly ORPHA:33226
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Anencephaly, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus call... ORPHA:1908
Beta-Ketothiolase Deficiency
Hepatomegaly, Pallor ORPHA:134
Childhood Absence Epilepsy
Pallor ORPHA:64280
Diabetic Embryopathy
Abnormality of the pancreas, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Spinal dys... ORPHA:1926
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Pallor, Splenomegaly ORPHA:98849
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Rare Circulatory System Disease
Pallor ORPHA:98028
Histiocytoid Cardiomyopathy
Hepatomegaly, Pallor, Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Aregenerative Anemia
Pallor ORPHA:101096
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Portal fibrosis, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Elevated hepatic tr... ORPHA:3260
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Secondary growth hormone deficiency, Abnormality of the pituitary gland... ORPHA:91347
Incontinentia Pigmenti
Pallor, Erythema, Microcephaly OMIM:308300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pachygyria, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Pallor, Typ... OMIM:253280
Fanconi Anemia, Complementation Group D2
Anemic pallor, Annular pancreas, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:227646
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Pallor, Hydrocephalus, Splenomegaly ORPHA:667
Posterior Meningocele
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Degcags Syndrome
Hepatomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Cholestasis, Pallor, Agenesis of co... OMIM:619488
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Fanconi Anemia, Complementation Group E
Microcephaly, Anemic pallor OMIM:600901
Multiple Endocrine Neoplasia Type 2
Pallor, Neoplasm of the liver ORPHA:653
Fanconi Anemia, Complementation Group A
Microcephaly, Anemic pallor OMIM:227650
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pallor, Neoplasm of the pancreas, Pancreatic cysts ORPHA:892
Iniencephaly
Anencephaly, Myelomeningocele, Holoprosencephaly, Lissencephaly, Spina bifida, Hydrocephalus, Spi... ORPHA:63259
Fanconi Anemia, Complementation Group C
Microcephaly, Anemic pallor OMIM:227645
Diamond-Blackfan Anemia 1
Pallor, Microcephaly OMIM:105650
Infection-Related Hemolytic Uremic Syndrome
Pallor, Pancreatitis ORPHA:544482
Esophageal Atresia
Pallor ORPHA:1199
Blackfan-Diamond Anemia
Pallor, Microcephaly ORPHA:124
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Splenomegaly OMIM:612918
Semilobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:220386
Alobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:93926
Lobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:93924
Schinzel-Giedion Syndrome
Neural tube defect, Annular pancreas, Hepatoblastoma, Hypoplasia of the corpus callosum, Umbilica... ORPHA:798
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor ORPHA:99125

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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