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Phenotypes Associated with This Genotype
Genotype
MGI:4429423
Allelic
Composition
Pitx3eyl/Pitx3eyl
Genetic
Background
involves: C3H/He * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx3eyl mutation (1 available); any Pitx3 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Eye abnormalities in Pitx3eyl/Pitx3eyl mice

behavior/neurological
• female mice exhibit reduced total distance travelled, mean velocity, rearing, board entry, and hole exploration compared with wild-type mice
• female mice exhibit increased energy uptake per unit body weight compared with wild-type mice
• male mice exhibit decreased latencies to enter the board and explore the holes and increased latency to grooming compared with wild-type mice
• female mice exhibit increased latency to enter the anxiogenic, exposed area (board entry) and increased risk assessment behavior, increased latency to explore the objects, and a tendency to stay more in contact with their cage mates in the adjacent group compartment compared with wild-type mice
• in a von Frey test
• mice exhibit decreased grip strength compared with wild-type mice
• in a chemical-abdominal constriction test
• in a Hargreaves test but not a tail flick test

homeostasis/metabolism
• female mice metabolize more energy per unit body weight compared with wild-type mice

vision/eye
• at E14.5, cornea are thickened compared to in wild-type mice and exhibits some adhesion to the rudimentary lens
• at E14.5, the rudimentary lens exhibits some adhesion to the cornea unlike in wild-type mice
• only a rudiment lens remains
• eyelids are closed at weaning
• mice exhibit a hypertrophic retina that fills almost the entire vitreous body
• retinal layers are inhomogeneous unlike in wild-type mice
• retina is folded unlike in wild-type mice

immune system
• decreased frequency in female mice
• increased frequency in female mice
• increased frequency in female mice
• unlike in wild-type mice, IgE levels are equivalent between male and female mice
• in female mice

respiratory system
• male mice exhibit increased mean respiratory rates and decreased mean inspiratory flow, minute ventilation, inspiratory time, and tidal volume compared with wild-type mice
• male mice exhibit increased mean respiratory rates and decreased mean inspiratory flow, minute ventilation, inspiratory time, and tidal volume compared with wild-type mice
• mice exhibit more frequent but less effective breathing compared with wild-type mice

growth/size/body
• in female mice
• in male and female mice
• at 9 weeks

adipose tissue
• at 9 weeks, fat mass and content are reduced compared to in wild-type mice

liver/biliary system
• in some mice with female mice slightly more affected than male mice

nervous system
• mice have fewer mesencephalic dopaminergic (mDA) neurons than wild-type mice
• the majority of mDAs in the substantia nigra are lost

skeleton
• female mice exhibit decreased bone mineral density, bone mineral content and bone content compared with wild-type mice

hematopoietic system
• decreased frequency in female mice
• in female mice
• increased frequency in female mice
• increased frequency in female mice
• unlike in wild-type mice, IgE levels are equivalent between male and female mice
• in female mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Parkinson's disease DOID:14330 OMIM:PS168600
J:156878


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
11/12/2024
MGI 6.24
The Jackson Laboratory