User:Rockpocket/MGP/SLX4
< User:Rockpocket | MGP
Model organisms
Male and female animals underwent a standardized
| Characteristic | Phenotype |
|---|---|
Homozygote viability |
Abnormal |
| Fertility | Abnormal |
| Body weight | Abnormal[6] |
Anxiety |
Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
Dysmorphology |
Abnormal[7] |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Abnormal[8] |
| Radiography | Abnormal[9] |
| Body temperature | Normal |
| Eye morphology | Abnormal[10] |
| Clinical chemistry | Normal |
Haematology |
Abnormal[11] |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Abnormal |
| Heart weight | Abnormal[12] |
| Skin Histopathology | Normal |
| Brain histopathology | Normal |
| Salmonella infection | Normal[13] |
| Citrobacter infection | Normal[14] |
| All tests and analysis from[4] |
Twenty four tests were carried out on
lean mass. Homozygotes of both sex had abnormal eye sizes, narrow eye openings, skeletal defects (including scoliosis and fusion of vertebrae), and displayed an increase in DNA instability as shown by a micronucleus test.[4] This and further analysis revealed the mouse phenotype to model the human genetic illness, Fanconi anemia,[5][15] and this was confirmed when patients with the disease were confirmed to have mutations in their SLX4 gene. [16]
References
- ^ "International Knockout Mouse Consortium".
- PMID 21677718.)
{{cite journal}}: CS1 maint: location (link - PMID 17218247.)
{{cite journal}}: CS1 maint: location (link) CS1 maint: multiple names: authors list (link - ^ doi:10.1111/j.1755-3768.2010.4142.x.)
{{cite journal}}: CS1 maint: location (link - ^ PMID 21722353.)
{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link - ^ "Body weight data for Slx4". Wellcome Trust Sanger Institute.
- ^ "Dysmorphology data for Slx4". Wellcome Trust Sanger Institute.
- ^ "DEXA data for Slx4". Wellcome Trust Sanger Institute.
- ^ "Radiography data for Slx4". Wellcome Trust Sanger Institute.
- ^ "Eye morphology data for Slx4". Wellcome Trust Sanger Institute.
- ^ "Haematology data for Slx4". Wellcome Trust Sanger Institute.
- ^ "Heart weight data for Slx4". Wellcome Trust Sanger Institute.
- ^ "Salmonella infection data for Slx4". Wellcome Trust Sanger Institute.
- ^ "Citrobacter infection data for Slx4". Wellcome Trust Sanger Institute.
- PMID 21240276.)
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: date and year (link) CS1 maint: multiple names: authors list (link - PMID 21240275.)
{{cite journal}}: CS1 maint: date and year (link) CS1 maint: multiple names: authors list (link