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Phenotypes Associated with This Genotype
Genotype
MGI:7355994
Allelic
Composition
Far2em1Akih/Far2em1Akih
Genetic
Background
C57BL/6J-Far2em1Akih
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Far2em1Akih mutation (0 available); any Far2 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• dilatation of the central ducts of meibomian glands
• accumulation of mono-/di-unsaturated (O-acyl)-omega-hydroxy fatty acids (OAHFAs) and omega-hyroxy fatty acids in the meibomian glands
• however, no differences in the morphology of the meibomian gland acini or the denucleation process of meibocytes and no atrophy or dropout of the meibomian glands are seen even at 15 months of age
• mice exhibit higher corneal damage scores than wild-type mice
• almost all of the meibum lipids with a 1-hydroxyl group (wax monoesters and type 1omega, type 2omega, and type 2alpha wax diesters) are absent from the meibum lipids
• type 1omega wax diesters with fatty alcohols with chain lengths of greater or equal to C19 are entirely absent and instead, the levels of both tri- and di-unsaturated type 1omega wax diesters with long-chain fatty alcohols, especially with C16:0-OH, are elevated in meibum
• mice consistently hold their eyes more closed than wild-type mice
• water evaporation from eyes is higher than in wild-type mice
• tear film breakup time is about 44% of that in wild-type mice, indicating destabilized tear film
• mice consistently hold their eyes more closed than wild-type mice and tears accumulate over the edges of their lower eyelids
• tear volume is 2-fold higher
• mice show typical evaporative/meibomian gland dysfunction-type dry eye phenotype

behavior/neurological
• blink frequency is increased, with approximately 9 blinks per minute compared to less than 1 in wild-type mice

endocrine/exocrine glands
• dilatation of the central ducts of meibomian glands
• accumulation of mono-/di-unsaturated (O-acyl)-omega-hydroxy fatty acids (OAHFAs) and omega-hyroxy fatty acids in the meibomian glands
• however, no differences in the morphology of the meibomian gland acini or the denucleation process of meibocytes and no atrophy or dropout of the meibomian glands are seen even at 15 months of age
• plugging of the meibomian gland orifices
• a paste-like meibum is extruded when the meibomian glands are subjected to pressure
• melting point of the meibum lipids is higher than in wild-type mice, indicating that meibum lipids do not melt at body temperature and result in plugging of the meibomian gland orifices
• almost all of the meibum lipids with a 1-hydroxyl group (wax monoesters and type 1omega, type 2omega, and type 2alpha wax diesters) are absent from the meibum lipids

integument
• dilatation of the central ducts of meibomian glands
• accumulation of mono-/di-unsaturated (O-acyl)-omega-hydroxy fatty acids (OAHFAs) and omega-hyroxy fatty acids in the meibomian glands
• however, no differences in the morphology of the meibomian gland acini or the denucleation process of meibocytes and no atrophy or dropout of the meibomian glands are seen even at 15 months of age
• plugging of the meibomian gland orifices
• a paste-like meibum is extruded when the meibomian glands are subjected to pressure
• melting point of the meibum lipids is higher than in wild-type mice, indicating that meibum lipids do not melt at body temperature and result in plugging of the meibomian gland orifices
• almost all of the meibum lipids with a 1-hydroxyl group (wax monoesters and type 1omega, type 2omega, and type 2alpha wax diesters) are absent from the meibum lipids

reproductive system
N
• normal fertility rate

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
dry eye syndrome DOID:10140 J:329410


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/05/2024
MGI 6.24
The Jackson Laboratory