Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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.
The table below shows human diseases predicted to be associated to Akap6 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Granulomas, Congenital Cerebral | Neonatal death | OMIM:306300 | |
Genitourinary Tract Anomalies | Neonatal death | OMIM:305690 | |
Pulmonary Hypoplasia, Primary | Neonatal death | OMIM:265430 | |
Diaphragmatic Hernia 5, X-Linked | Neonatal death | OMIM:306950 | |
Epidermolysis Bullosa With Diaphragmatic Hernia | Neonatal death | OMIM:226735 | |
Lethal Congenital Contracture Syndrome 3 | Neonatal death | OMIM:611369 | |
Pyknoachondrogenesis | Stillbirth | OMIM:265880 | |
Neutropenia, Lethal Congenital, With Eosinophilia | Neonatal death | OMIM:257100 | |
Thanatophoric Dysplasia, Glasgow Variant | Neonatal death | OMIM:273680 | |
Mitochondrial Complex I Deficiency, Nuclear Type 30 | Neonatal death | OMIM:301021 | |
Lethal Congenital Contracture Syndrome 8 | Death in infancy, Neonatal death | OMIM:616287 | |
Immunoneurologic Disorder, X-Linked | Neonatal death | OMIM:300076 | |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant | Death in infancy, Neonatal death | OMIM:617184 | |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies | Neonatal death | OMIM:619602 | |
Stuve-Wiedemann Syndrome 2 | Neonatal death, Death in adolescence, Stillbirth | OMIM:619751 | |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive | Death in childhood, Death in infancy, Neonatal death | OMIM:620265 | |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B | Neonatal death | OMIM:615228 | |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia | Neonatal death | OMIM:612138 | |
Combined Oxidative Phosphorylation Deficiency 8 | Death in childhood, Death in infancy, Neonatal death | OMIM:614096 | |
Ichthyosis, Congenital, Autosomal Recessive 4B | Death in infancy, Neonatal death | OMIM:242500 | |
Cardiomyopathy, Dilated, 2H | Neonatal death | OMIM:620203 | |
Peroxisome Biogenesis Disorder 6A (Zellweger) | Neonatal death | OMIM:614870 | |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome | Neonatal death | OMIM:601612 | |
Arthrogryposis Multiplex Congenita 6 | Death in childhood, Death in infancy, Neonatal death | OMIM:619334 | |
Ulnar Agenesis And Endocardial Fibroelastosis | Neonatal death | OMIM:276822 | |
Combined Oxidative Phosphorylation Deficiency 21 | Neonatal death | OMIM:615918 | |
Larsen-Like Syndrome, Lethal Type | Neonatal death | OMIM:245650 | |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency | Neonatal death | OMIM:602199 | |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts | Death in infancy, Neonatal death | OMIM:613730 | |
Fanconi Anemia, Complementation Group O | Miscarriage, Death in infancy, Neonatal death | OMIM:613390 | |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia | Neonatal death | OMIM:619817 | |
Mitochondrial Complex I Deficiency, Nuclear Type 9 | Neonatal death | OMIM:618232 | |
Afibrinogenemia, Congenital | Death in adolescence, Death in childhood, Death in infancy, Neonatal death | OMIM:202400 | |
Boomerang Dysplasia | Neonatal death | OMIM:112310 | |
Fetal Gaucher Disease | Stillbirth, Death in infancy, Neonatal death | ORPHA:85212 | |
Lymphatic Malformation 12 | Death in adolescence, Neonatal death | OMIM:620014 | |
Lethal Congenital Contracture Syndrome 1 | Neonatal death | OMIM:253310 | |
Abcd Syndrome | Neonatal death | OMIM:600501 | |
Combined Oxidative Phosphorylation Deficiency 40 | Death in infancy, Neonatal death | OMIM:618835 | |
Combined Oxidative Phosphorylation Deficiency 42 | Death in infancy, Neonatal death | OMIM:618839 | |
Sacral Agenesis With Vertebral Anomalies | Neonatal death | OMIM:615709 | |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 | Neonatal death | OMIM:619362 | |
Mednik Syndrome | Death in childhood, Death in infancy, Neonatal death | OMIM:609313 | |
Surfactant Metabolism Dysfunction, Pulmonary, 1 | Death in infancy, Neonatal death | OMIM:265120 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Akap6tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Akap6tm269768(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
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