Mouse Genome Informatics
ht
    Pitx2tm1Sac/Pitx2+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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

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

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