Mouse Genome Informatics
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    Pitx3ak/Pitx3ak
either: (involves: 129/Sv * C57BLKS) or (involves: 129/Sv * C57BL/6)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
pigmentation
• intensly pigmented around the pupil at E13
• pupillary area replaced by iris at E17-18

behavior/neurological
• reduced spontaneous activity at night

endocrine/exocrine glands
• enlarged lacrimal gland partially fills the orbit

growth/size
• slightly smaller than normal

reproductive system
• fertility is reduced at generation F3 and beyond, particularly for females

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

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)
• less cellularity in the substantia nigra
• tyrosine hydroxylase immunoreactivity absent in the substantia nigra
• decreased numbers of nigrostriatal fibers

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