Gene Summary

Name:
PTK6 protein tyrosine kinase 6
Synonyms:
Tksk,  Sik

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 urinary bladder morphology Ptk6tm1b(EUCOMM)Wtsi HOM Early adult 0.00
preweaning lethality, incomplete penetrance Ptk6tm1b(EUCOMM)Wtsi HOM Early adult 0.00

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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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Ptk6 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 Ptk6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Jejunal Atresia
Jejunal atresia OMIM:243600
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Diarrhea 9
Villous atrophy OMIM:618168
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Duodenal Atresia
Duodenal atresia OMIM:223400
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Malabsorption ORPHA:100025
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation ORPHA:1201
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Pancreatic Colipase Deficiency
Fat malabsorption, Steatorrhea ORPHA:309108
Feingold Syndrome Type 2
Jejunal atresia ORPHA:391646
Intussusception
Intussusception OMIM:147710
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... OMIM:300048
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... ORPHA:2070
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... OMIM:601346
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... OMIM:615710
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis OMIM:611376
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Alg1-Cdg
Abnormality of the gastrointestinal tract, Protein-losing enteropathy ORPHA:79327
Duodenal Atresia
Duodenal atresia ORPHA:1203
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia ORPHA:3405
Alg6-Cdg
Macroglossia, Protein-losing enteropathy ORPHA:79320
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Protein-losing enteropathy, Steatorrhea OMIM:602579
Mpi-Cdg
Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Refractory Celiac Disease
Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption ORPHA:398063
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Acholic stools, Steatorrhea OMIM:607765
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia ORPHA:3004
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption ORPHA:79302
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption OMIM:211600
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption OMIM:214950
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy OMIM:608104
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... ORPHA:79076
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Enterocolitis OMIM:616050
Chylomicron Retention Disease
Fat malabsorption, Steatorrhea ORPHA:71
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon OMIM:155310
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis OMIM:614602
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... OMIM:115470
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Colitis, Malabsorption OMIM:209920
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Netherton Syndrome
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia OMIM:256500
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Meckel diverticulum OMIM:616395
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Steatorrhea ORPHA:79303
Oculoskeletodental Syndrome
Macroglossia, Protein-losing enteropathy OMIM:618440
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... ORPHA:2929
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Abnormal small intestinal villus morphology, Increased stool alpha1-... ORPHA:90362
Immunodeficiency 31C
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception OMIM:614162
Immunodeficiency 85 And Autoimmunity
Villous atrophy OMIM:619510
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Protein-losing enteropathy, Cleft palate OMIM:235255
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Dextrocardia
Meckel diverticulum, Intestinal malrotation ORPHA:1666
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Ileus OMIM:304790
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Rectal prolapse, Protein-losing enteropathy, Narrow palate OMIM:235510
Tarp Syndrome
Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum OMIM:311900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Protein-losing enteropathy ORPHA:1655
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine OMIM:200995
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Protein-losing enteropathy OMIM:618183
Matthew-Wood Syndrome
Duodenal stenosis ORPHA:2470
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time OMIM:619377
Tarp Syndrome
Glossoptosis, Tongue nodules, Cleft palate, Abnormal duodenum morphology ORPHA:2886
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... OMIM:265380
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption ORPHA:96180
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, High palate, Cleft palate ORPHA:2953
Isolated Biliary Atresia
Acholic stools, Fat malabsorption ORPHA:30391
Zygomycosis
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Enterocolitis, Hematochezia, Melena, Unusual... ORPHA:73263
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Protein-losing enteropathy, He... ORPHA:731
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Meckel diverticu... OMIM:229850
Mosaic Trisomy 16
Anteriorly placed anus, Abnormality of the gastrointestinal tract, Meckel diverticulum ORPHA:1708
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Abnormal duodenum morphology OMIM:601776
Fraser Syndrome 1
Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Steatorrhea OMIM:557000
Parenteral Nutrition-Associated Cholestasis
Villous atrophy ORPHA:567983
Abetalipoproteinemia
Fat malabsorption, Steatorrhea ORPHA:14
Fanconi Anemia
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ... ORPHA:84
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Fat malabsorption, Steatorrhea ORPHA:811
Trisomy 8P
Malrotation of small bowel, Bifid uvula, Cleft palate ORPHA:264450
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula ORPHA:90349
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Cleft palate OMIM:274000
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Colitis, Anoperineal fistula, Crohn's disease OMIM:619381
Genitopatellar Syndrome
Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Dysphagia, Anal atresia OMIM:606170
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Liver Disease, Severe Congenital
Chronic gastritis, Protein-losing enteropathy OMIM:619991
Autosomal Dominant Cutis Laxa
Small bowel diverticula ORPHA:90348
Wolf-Hirschhorn Syndrome
Malrotation of small bowel, Gastroesophageal reflux, Cleft palate OMIM:194190
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Intestinal malrotation, Cleft palate, Narrow palate, Macrogloss... OMIM:312870

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 Ptk6

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 Ptk6.

No publications found that use IMPC mice or data for Ptk6.

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MGI Allele Allele Type Produced
Ptk6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ptk6tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Ptk6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ptk6tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ptk6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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