Phenotypes Associated with This Genotype

Genotype
MGI:3589286

• Allelic Composition: Pitx1^tm1Jdr/Pitx1^tm1Jdr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

limbs/digits/tail

small limb buds ( J:80020 )

• limb bud size is reduced and in about 50% of mutants the reduction is greater on the right side than on the left

• limb bud reduction is the result of narrowing of the limb bud so that it is only about 2.5 somites in length rather than 3.5/4 somites as in wild-type embryos apparently the result of a loss of anterior bud mesenchyme

hindlimb oligodactyly ( J:80020 )

• digit one on the right hindlimb is lost

abnormal hindlimb morphology ( J:80020 )

• some hindlimb specific features are lost and replaced by features resembling the forelimb (for example diameter of the tibia and fibula and articulation of the knee joint)

short femur ( J:80020 )

• the femur directly contacts the fibula and is shorter than normal

• the reduction in femur length is often greater on the right side than on the left

abnormal fibula morphology ( J:80020 )

• the diameters of the tibia and fibula are similar and the fibula directly contacts the femur

abnormal tibia morphology ( J:80020 )

• the diameters of the tibia and fibula are similar

skeleton

short femur ( J:80020 )

• the femur directly contacts the fibula and is shorter than normal

• the reduction in femur length is often greater on the right side than on the left

abnormal fibula morphology ( J:80020 )

• the diameters of the tibia and fibula are similar and the fibula directly contacts the femur

abnormal tibia morphology ( J:80020 )

• the diameters of the tibia and fibula are similar

abnormal pelvic girdle bone morphology ( J:80020 )

• attachment of the pelvic bones is often displaced posteriorly with attachment to the to the second or third sacral vertebra and this attachment is sometimes asymmetrical with greater displacement on the right than the left

absent ilium ( J:80020 )

• some homozygotes lack the ilium with attachment to the vertebrae through the acetabulum

abnormal cartilage morphology ( J:80020 )

• the secondary cartilage of the hindlimb knee joint does not form

embryo

small limb buds ( J:80020 )

• limb bud size is reduced and in about 50% of mutants the reduction is greater on the right side than on the left

• limb bud reduction is the result of narrowing of the limb bud so that it is only about 2.5 somites in length rather than 3.5/4 somites as in wild-type embryos apparently the result of a loss of anterior bud mesenchyme