Gene: Ptk6 MGI:99683

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Gene Summary

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

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

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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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

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
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Diarrhea 9
Villous atrophy OMIM:618168
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Intestinal malrotation, Steatorrhea, Con... OMIM:615237
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Steatorrhea OMIM:613291
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Small bowel diverticula, Jejunoileal ulceration OMIM:221400
Diarrhea 2, With Microvillus Atrophy
Villous atrophy, Abnormal intestine morphology OMIM:251850
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Ileitis, Protein-losing enteropathy, Pancolitis, Gastritis, Abnormal int... OMIM:619079
Duodenal Atresia
Duodenal atresia OMIM:223400
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Duodenal diverticula, Ulcerative colitis, Jejunal diverticula OMIM:223320
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Annular Pancreas
Duodenal stenosis, High intestinal obstruction ORPHA:675
Pancreas, Annular
Duodenal stenosis, High intestinal obstruction OMIM:167750
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Vascular Hyalinosis
Protein-losing enteropathy, Malabsorption, Hematochezia OMIM:277175
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Alpha-Heavy Chain Disease
Abnormality of the small intestine, Malabsorption ORPHA:100025
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Atresia Of Small Intestine
Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia ORPHA:1201
Pancreatic Colipase Deficiency
Fat malabsorption, Steatorrhea ORPHA:309108
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Villous atrophy, Aganglionic megacolon, Steatorrhea, Volvulus, Abno... ORPHA:95427
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Intussusception
Intussusception OMIM:147710
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Rectovaginal fistula, Enterocolitis, Perianal abscess OMIM:612567
Feingold Syndrome Type 2
Jejunal atresia ORPHA:391646
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula OMIM:223330
Mungan Syndrome
Megaduodenum, Hypoperistalsis, Barrett esophagus, Intestinal pseudo-obstruction OMIM:611376
Immunodeficiency 31C
Villous atrophy, Abnormal intestine morphology OMIM:614162
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Colonic atresia ORPHA:1198
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Congenital Bile Acid Synthesis Defect Type 4
Fat malabsorption ORPHA:79095
Martinez-Frias Syndrome
Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Duodenal atresia, Tracheoesophage... OMIM:601346
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Eosinophilic Gastroenteritis
Hematochezia, Dysphagia, Abnormality of the gastrointestinal tract, Steatorrhea, Protein-losing e... ORPHA:2070
Autoinflammatory Syndrome, Familial, Behcet-Like
Ileal ulcer, Colitis OMIM:616744
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation ORPHA:1759
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Protein-losing enteropathy OMIM:602579
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Duodenal Atresia
Duodenal atresia ORPHA:1203
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hematochezia, Gastrointestinal carcinoma, Protein-losing enteropathy, Xerostomia, Hama... OMIM:175500
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption OMIM:211600
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption OMIM:214950
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Steatorrhea, Anal atresia, Abnormal... ORPHA:92050
Barrett Esophagus
Esophageal carcinoma, Esophageal ulceration, Gastroesophageal reflux, Barrett esophagus OMIM:614266
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... ORPHA:263665
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia ORPHA:3405
Mitchell-Riley Syndrome
Intestinal malrotation, Jejunal atresia, Anteriorly placed anus, Duodenal atresia, Malabsorption OMIM:615710
Refractory Celiac Disease
Protein-losing enteropathy, Villous atrophy, Malabsorption, Jejunitis ORPHA:398063
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis OMIM:614602
Netherton Syndrome
Villous atrophy, Intestinal atresia, Abnormal intestine morphology OMIM:256500
Harrod Syndrome
Malrotation of small bowel, Aganglionic megacolon, High palate, High, narrow palate, Pyloric sten... OMIM:601095
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy OMIM:608104
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia ORPHA:3004
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Enterocolitis OMIM:616050
Microcolon
Microcolon OMIM:251400
Chylomicron Retention Disease
Fat malabsorption, Steatorrhea ORPHA:71
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Morphological abnormality of the gastrointestinal tract, Intestinal malrotation ORPHA:2847
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Steatorrhea OMIM:607765
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Colitis OMIM:209920
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, High palate, Villous atrophy OMIM:601110
Scleroderma
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Abno... ORPHA:801
X-Linked Non-Syndromic Intellectual Disability
Meckel diverticulum, Pyloric stenosis ORPHA:777
Storm Syndrome
Fat malabsorption OMIM:185069
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Dysp... ORPHA:90291
Juvenile Polyposis Of Infancy
Hamartomatous polyposis, Intestinal bleeding, Gastrointestinal hemorrhage, Hematochezia, Intussus... ORPHA:79076
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Anal atresia, Volvulus, Duodenal stenosis, Tracheo... ORPHA:210122
Visceral Myopathy 1
Megaduodenum, Dysphagia, Aganglionic megacolon, Intestinal pseudo-obstruction, Microcolon OMIM:155310
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Down Syndrome
Macroglossia, Aganglionic megacolon, Protruding tongue, Anal atresia, Duodenal stenosis OMIM:190685
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Ileus OMIM:304790
Oculoskeletodental Syndrome
Macroglossia, Protein-losing enteropathy OMIM:618440
Juvenile Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Rectocele, Gastrointestinal hemorrhage,... ORPHA:2929
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, High palate, Cleft palate OMIM:235255
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Morphological abnormality of the gastrointestin... ORPHA:141127
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512
Dextrocardia
Meckel diverticulum, Intestinal malrotation ORPHA:1666
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Rectal prolapse, Narrow palate, Protein-losing enteropathy OMIM:235510
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Meckel diverticulum OMIM:602613
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Chronic atrophic gastritis, Colitis OMIM:614700
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia OMIM:618183
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hiatus hernia, Abnormal duodenum morphology, Intestinal malrotation, Cleft palate, High palate OMIM:601776
Whim Syndrome
Abnormality of the small intestine, Parotitis ORPHA:51636
Matthew-Wood Syndrome
Duodenal stenosis ORPHA:2470
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Protein-losing enteropathy ORPHA:1655
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine OMIM:200995
Combined Immunodeficiency-Enteropathy Spectrum
Gastrointestinal atresia, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Intesti... ORPHA:436252
Meier-Gorlin Syndrome 7
Anal stenosis, Anal atresia, Cleft palate, High palate, Duodenal stenosis OMIM:617063
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy OMIM:606367
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption ORPHA:96180
Tarp Syndrome
Cleft palate, Abnormal duodenum morphology, Glossoptosis, Tongue nodules ORPHA:2886
Musculocontractural Ehlers-Danlos Syndrome
High palate, Malrotation of small bowel, Cleft palate ORPHA:2953
Parenteral Nutrition-Associated Cholestasis
Villous atrophy ORPHA:567983
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Esophageal varix, Protein-losing enteropathy, Cholangiocarcinoma, Fa... ORPHA:731
Mosaic Trisomy 16
Meckel diverticulum, Abnormality of the gastrointestinal tract, Anteriorly placed anus ORPHA:1708
Fryns Syndrome
Meckel diverticulum, Intestinal malrotation, Esophageal atresia, Aganglionic megacolon, Duodenal ... OMIM:229850
Isolated Biliary Atresia
Fat malabsorption ORPHA:30391
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Villous atrophy, Enterocolitis, Abnormal intestine morphology ORPHA:391487
Fraser Syndrome 1
Abnormality of the anus, Abnormality of the small intestine, Cleft palate OMIM:219000
Syndromic Diarrhea
Villous atrophy, Gastritis, Hepatoblastoma, Colitis ORPHA:84064
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula ORPHA:90349
Zygomycosis
Gastrointestinal hemorrhage, Hematemesis, Hematochezia, Ileitis, Unusual gastrointestinal infecti... ORPHA:73263
Trichohepatoenteric Syndrome 1
Bifid uvula, Villous atrophy OMIM:222470
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Intestinal malrotation, Esophageal atresia, Duodenal atresia, Anal atresia, ... OMIM:265380
Abetalipoproteinemia
Fat malabsorption, Steatorrhea ORPHA:14
Fanconi Anemia
Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Aganglionic megacolon, Anal atresia, Cleft ... ORPHA:84
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Fat malabsorption, Steatorrhea ORPHA:811
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Cleft palate ORPHA:264450
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum OMIM:274000
Simpson-Golabi-Behmel Syndrome, Type 1
Meckel diverticulum, Macroglossia, Intestinal malrotation, Cleft palate OMIM:312870
Wolf-Hirschhorn Syndrome
Gastroesophageal reflux, Malrotation of small bowel, Cleft palate OMIM:194190

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
Ptk6tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Ptk6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ptk6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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