Mouse Genome Informatics
ht
    Pitx1tm1Rsd/Pitx1+
involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
limbs/digits/tail
• clubfoot is unilateral in 16 of 20 affected mutants, with right and left limbs equally affected
• higher incidence of clubfoot is seen in females compared to males
• 20 of 225 mice exhibit clubfoot, indicating an 8.9% penetrance of clubfoot

cardiovascular system
• peroneal artery hypoplasia occurs in the clubfoot limb

growth/size/body
• mutants exhibit overall growth impairment

adipose tissue
• fat volume of the clubfoot limb is increased compared to unaffected limb

muscle
• muscle hypoplasia in the clubfoot limb

skeleton
• tibial and fibular bone volumes are reduced in the clubfoot limb

Mouse Models of Human Disease
OMIM IDRef(s)
Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly; CCF 119800 J:175799