Phenotypes Associated with This Genotype

Genotype
MGI:5294943

• Allelic Composition: Pitx1^tm1Rsd/Pitx1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

limbs/digits/tail

clubfoot ( J:175799 )

• 20 of 225 mice exhibit clubfoot, indicating an 8.9% penetrance of clubfoot

• 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

cardiovascular system

abnormal artery morphology ( J:175799 )

• peroneal artery hypoplasia occurs in the clubfoot limb

growth/size/body

abnormal postnatal growth ( J:175799 )

• mutants exhibit overall growth impairment

adipose tissue

abnormal adipose tissue amount ( J:175799 )

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

muscle

muscle hypoplasia ( J:175799 )

• muscle hypoplasia in the clubfoot limb

skeleton

decreased bone volume ( J:175799 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
clubfoot		DOID:11836	OMIM:119800	J:175799