Phenotypes Associated with This Genotype

Genotype
MGI:2170004

• Allelic Composition: Pitx2^tm1Sac/Pitx2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

vision/eye

abnormal pupil morphology ( J:51160 )

• multiple pupillary openings are seen in about 10% of heterozygotes

abnormal placement of pupils ( J:51160 )

• seen in about 10% of heterozygotes

anisocoria ( J:51160 )

• seen in about 10% of heterozygotes

cataract ( J:51160 )

• clouded lenses are seen in about 10% of heterozygotes

microphthalmia ( J:51160 )

• in 2 of about 30 heterozygotes small eyes are seen

craniofacial

misaligned incisors ( J:51160 )

• in 2 of about 30 heterozygotes mal-occluded incisors are seen

malocclusion ( J:51160 )

• in 2 of about 30 heterozygotes mal-occluded incisors are seen

skeleton

misaligned incisors ( J:51160 )

• in 2 of about 30 heterozygotes mal-occluded incisors are seen

malocclusion ( J:51160 )

• in 2 of about 30 heterozygotes mal-occluded incisors are seen

growth/size/body

misaligned incisors ( J:51160 )

• in 2 of about 30 heterozygotes mal-occluded incisors are seen

malocclusion ( J:51160 )

• in 2 of about 30 heterozygotes mal-occluded incisors are seen

decreased body size ( J:51160 )

• in 2 of about 30 heterozygotes body size is reduced to 1/3 that of wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Axenfeld-Rieger syndrome type 1		DOID:0110120	OMIM:180500	J:51160