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Phenotypes Associated with This Genotype
Genotype
MGI:2170004
Allelic
Composition
Pitx2tm1Sac/Pitx2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2tm1Sac mutation (0 available); any Pitx2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• multiple pupillary openings are seen in about 10% of heterozygotes
• seen in about 10% of heterozygotes
• seen in about 10% of heterozygotes
• clouded lenses are seen in about 10% of heterozygotes
• in 2 of about 30 heterozygotes small eyes are seen

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

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

growth/size/body
• in 2 of about 30 heterozygotes mal-occluded incisors are seen
• in 2 of about 30 heterozygotes body size is reduced to 1/3 that of wild-type

Mouse Models of Human Disease
OMIM ID Ref(s)
Axenfeld-Rieger Syndrome, Type 1; RIEG1 180500 J:51160


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
06/22/2016
MGI 6.04
The Jackson Laboratory