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Phenotypes Associated with This Genotype
Genotype
MGI:3042029
Allelic
Composition
Pitx3ak/Pitx3ak
Genetic
Background
either: (involves: 129/Sv * C57BLKS) or (involves: 129/Sv * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx3ak mutation (1 available); any Pitx3 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• intensly pigmented around the pupil at E13 (J:5084)
• pupillary area replaced by iris at E17-18 (J:5084)
• intensly pigmented around the pupil at E13 (J:5084)
• pupillary area replaced by iris at E17-18 (J:5084)

behavior/neurological
• reduced spontaneous activity at night (J:82907)
• reduced spontaneous activity at night (J:82907)

endocrine/exocrine glands
• enlarged lacrimal gland partially fills the orbit (J:5084)
• enlarged lacrimal gland partially fills the orbit (J:5084)

growth/size/body
• slightly smaller than normal (J:5084)
• slightly smaller than normal (J:5084)

reproductive system
• fertility is reduced at generation F3 and beyond, particularly for females (J:5084)
• fertility is reduced at generation F3 and beyond, particularly for females (J:5084)

vision/eye
• enlarged lacrimal gland partially fills the orbit (J:5084)
• enlarged lacrimal gland partially fills the orbit (J:5084)
• intensly pigmented around the pupil at E13 (J:5084)
• pupillary area replaced by iris at E17-18 (J:5084)
• intensly pigmented around the pupil at E13 (J:5084)
• pupillary area replaced by iris at E17-18 (J:5084)
• no pupil at birth (J:5084)
• no pupil at birth (J:5084)
• little growth or organization of the lens vesicle after E11 (J:5084)
• little growth or organization of the lens vesicle after E11 (J:5084)
• ocular area slightly concave after eyes open (J:5084)
• ocular area slightly concave after eyes open (J:5084)
• eyes slightly smaller than normal at birth (J:5084)
• slightly smaller and uneven at E13 (J:5084)
• eyes slightly smaller than normal at birth (J:5084)
• slightly smaller and uneven at E13 (J:5084)
• abnormal growth of the eyecup after E13 (J:5084)
• sensory and pigmented layers remain separated (J:5084)
• abnormal growth of the eyecup after E13 (J:5084)
• sensory and pigmented layers remain separated (J:5084)
• many retinal folds at birth (J:5084)
• partially fills the vitreous chamber (J:5084)
• many retinal folds at birth (J:5084)
• partially fills the vitreous chamber (J:5084)

nervous system
• at E12.5, mesencephalon dopaminergic neurons are normal (J:82907)
• by the first day after birth there is a 91% reduction in neurons with tyrosine hydroxylase immunoreactivity (J:82907)
• reduced activity in the ventral tegmental area but slower to develop (J:82907)
• dorsal tier of the pars compacta of the substantia nigra retains tyrosine hydroxylase activity (J:82907)
• at E12.5, mesencephalon dopaminergic neurons are normal (J:82907)
• by the first day after birth there is a 91% reduction in neurons with tyrosine hydroxylase immunoreactivity (J:82907)
• reduced activity in the ventral tegmental area but slower to develop (J:82907)
• dorsal tier of the pars compacta of the substantia nigra retains tyrosine hydroxylase activity (J:82907)
• less cellularity in the substantia nigra (J:82746)
• tyrosine hydroxylase immunoreactivity absent in the substantia nigra (J:82746)
• decreased numbers of nigrostriatal fibers (J:82746)
• less cellularity in the substantia nigra (J:82746)
• tyrosine hydroxylase immunoreactivity absent in the substantia nigra (J:82746)
• decreased numbers of nigrostriatal fibers (J:82746)

Mouse Models of Human Disease
OMIM ID Ref(s)
Anterior Segment Mesenchymal Dysgenesis; ASMD 107250 J:5084 , J:82746 , J:82907


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory