Table 1.
Results of the German mouse clinic (GMC).
| Screens | Test | Phenotype overview of homozygous Aey69 mouse mutants |
|---|---|---|
| Dysmorphology, Bone and Cartilage | Morphological observation | Confirmation of microphthalmia |
| Bone densitometry | Decreased fat content, increased lean content in females | |
| X-ray | None | |
| Click Box | None | |
| Behavior | Open Field | Locomotor hyperactivity and increased exploration; signs of decreased anxiety, which may be a secondary confound of the increased activity |
| Acoustic startle and Prepulse Inhibition | None | |
| Neurology | Modified SHIRPA protocol | Hyperactivity, closed eyes, more tail elevation |
| Grip strength | None | |
| Lactate | None | |
| Rotarod | Female mutants do not improve compared to controls | |
| Nociception | Hot plate assay | None |
| Energy Metabolism | Indirect calorimetry | Body temperature was significantly increased |
| Minispec NMR body composition | None | |
| Clinical Chemistry and Hematology | Clinical chemistry |
Non-fasted mice ASAT and LDH activity increased in mutant animals, significantly increased plasma chloride and decreased albumin levels in female mutants; tendency of higher sodium values in mutant mice. Fasted mice Statistically significant differences of blood lipid and glucose values in female mutant mice (total cholesterol, HDL-cholesterol and non-HDL-cholesterol); Triglyceride values were significantly decreased in mutant females; glycerol levels slightly decreased in both male and female mutants |
| Hematology | None | |
| IpGTT | Slightly increased fasted glucose level | |
| Immunology | Flow cytometry | Subtle alterations in T cell subsets in females |
| Immunoglobulin levels | Decrease in the levels of IgG1 and IgM | |
| Allergy | IgE level | None |
| Steroid Metabolism | DHEA level | Slightly increased in male mutants |
| Testosterone level | None | |
| Cardiovascular | Non-invasive tail-cuff blood pressure measurement | None |
| Heart weight | None | |
| Lung Function | Whole body plethysmography | Only body mass related differences between female groups |
| Pathology | Macroscopic analysis | Confirmation of anophthalmia |
| Histology | None |
The Eye Screen was removed from the list, because the characterization of the eye development is the objective of this paper. Moreover, because of the microphthalmic/anophthalmic phenotype and the severe ocular malformations, our routine test systems could not be applied.
p-values are given in Supplementary Table S3; all data will be available through the mouse PhenoMap online (www.mouseclinic.de/).