Phenotypes Associated with This Genotype

Genotype
MGI:3042029

• Allelic Composition: Pitx3^ak/Pitx3^ak
• Genetic Background: either: (involves: 129/Sv * C57BLKS) or (involves: 129/Sv * C57BL/6)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

pigmentation

abnormal iris pigmentation ( J:5084 )

• intensly pigmented around the pupil at E13

• pupillary area replaced by iris at E17-18

behavior/neurological

decreased locomotor activity ( J:82907 )

• reduced spontaneous activity at night

endocrine/exocrine glands

enlarged lacrimal gland ( J:5084 )

• enlarged lacrimal gland partially fills the orbit

growth/size/body

decreased body size ( J:5084 )

• slightly smaller than normal

reproductive system

reduced fertility ( J:5084 )

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

vision/eye

enlarged lacrimal gland ( J:5084 )

• enlarged lacrimal gland partially fills the orbit

abnormal anterior eye segment morphology ( J:5084 )

abnormal iris pigmentation ( J:5084 )

• intensly pigmented around the pupil at E13

• pupillary area replaced by iris at E17-18

acoria ( J:5084 )

• no pupil at birth

abnormal lens development ( J:5084 )

• little growth or organization of the lens vesicle after E11

abnormal eye distance/ position ( J:5084 )

• ocular area slightly concave after eyes open

microphthalmia ( J:5084 )

• eyes slightly smaller than normal at birth

• slightly smaller and uneven at E13

abnormal posterior eye segment morphology ( J:5084 )

abnormal ocular fundus morphology ( J:5084 )

• abnormal growth of the eyecup after E13

• sensory and pigmented layers remain separated

abnormal retina morphology ( J:5084 )

• partially fills the vitreous chamber

retina fold ( J:5084 )

• many retinal folds at birth

nervous system

abnormal midbrain morphology ( J:82746 , 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)

decreased substantia nigra size ( J:82746 )

• less cellularity in the substantia nigra

• tyrosine hydroxylase immunoreactivity absent in the substantia nigra

• decreased numbers of nigrostriatal fibers

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
anterior segment dysgenesis		DOID:0060648	OMIM:PS107250	J:5084 , J:82746 , J:82907