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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pitx1tm1Jdr
targeted mutation 1, Jaques Drouin
MGI:1857659
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pitx1tm1Jdr/Pitx1tm1Jdr involves: 129S1/Sv * 129X1/SvJ MGI:3589286
hm2
Pitx1tm1Jdr/Pitx1tm1Jdr involves: 129S1/Sv * 129X1/SvJ * BALB/c MGI:2168288
cx3
Pitx1tm1Jdr/Pitx1tm1Jdr
Pitx2tm1Sac/Pitx2tm1Sac
involves: 129S1/Sv * 129X1/SvJ MGI:3589285
cx4
Pitx1tm1Jdr/Pitx1tm1Jdr
Pitx2tm1Sac/Pitx2+
involves: 129S1/Sv * 129X1/SvJ MGI:3589451
cx5
Pitx1tm1Jdr/Pitx1+
Pitx2tm1Sac/Pitx2tm1Sac
involves: 129S1/Sv * 129X1/SvJ MGI:3589452
cx6
Pitx1tm1Jdr/Pitx1tm1Jdr
Pitx2tm2Sac/Pitx2+
involves: 129S1/Sv * 129X1/SvJ MGI:5298059
cx7
Pitx1tm1Jdr/Pitx1tm1Jdr
Pitx2tm1Sac/Pitx2tm2Sac
involves: 129S1/Sv * 129X1/SvJ MGI:5298066


Genotype
MGI:3589286
hm1
Allelic
Composition
Pitx1tm1Jdr/Pitx1tm1Jdr
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx1tm1Jdr mutation (0 available); any Pitx1 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• 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
• digit one on the right hindlimb is lost
• 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)
• 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
• the diameters of the tibia and fibula are similar and the fibula directly contacts the femur
• the diameters of the tibia and fibula are similar

skeleton
• 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
• the diameters of the tibia and fibula are similar and the fibula directly contacts the femur
• the diameters of the tibia and fibula are similar
• 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
• some homozygotes lack the ilium with attachment to the vertebrae through the acetabulum
• the secondary cartilage of the hindlimb knee joint does not form

embryo
• 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




Genotype
MGI:2168288
hm2
Allelic
Composition
Pitx1tm1Jdr/Pitx1tm1Jdr
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx1tm1Jdr mutation (0 available); any Pitx1 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes die at birth

limbs/digits/tail
• forelimbs are normal but hindlimbs are shorter than normal
• hindlimb structures affected are all on the dorsal side and proximal structures are more severely affected than distal structures
• the femur is shorter than normal and in 5 of 6 cases the right femur is more severely affected than the left
• endochondral bone is greatly diminished
• calcification of the tibia is severely reduced with narrower cortical bone and reduced trabecular bone
• the tibia is shorter and narrower and is comparable in size to the fibula
• the knee joints lack a distinct fabella
• the knee joints lack a distinct patella

skeleton
• seen at E14.5
• no evidence of the gonial bone can be found
• the femur is shorter than normal and in 5 of 6 cases the right femur is more severely affected than the left
• endochondral bone is greatly diminished
• calcification of the tibia is severely reduced with narrower cortical bone and reduced trabecular bone
• the tibia is shorter and narrower and is comparable in size to the fibula
• the knee joints lack a distinct fabella
• the knee joints lack a distinct patella
• the pelvic bones are attached to the first sacral vertebra through the acetabulum rather than the ilium and in 2 cases the attachment is asymmetrical between the second and third sacral vertebra
• the ilium is absent or consists only of cartilaginous remnants
• slightly smaller
• pubic bone is slightly smaller
• the cartilage of the distal femur and tibia heads is greatly reduced
• abnormal bone formation is seen around the Meckel's cartilage all the way up to the malleus
• at the distal end of the tibia the hypertrophic chondrocytes are enlarged and their layer is expanded; however less extracellular matrix is produced and almost no mineralization is seen
• at the proximal end of the tibia, undifferentiated chondrocytes, articular cartilage, secondary ossification centers, and pre-hypertrophied chondrocytes are almost absent
• at the distal end of the tibia the hypertrophic chondrocytes are enlarged and their layer is expanded

craniofacial
• seen at E14.5
• no evidence of the gonial bone can be found
• abnormal bone formation is seen around the Meckel's cartilage all the way up to the malleus
• at E14.5 the palatal shelves fail to elevate and fuse resulting in a deficiency in maxillary epithelium
• at E14.5 a bifurcate tongue is present

hearing/vestibular/ear
• no evidence of the gonial bone can be found
• the tympanic bone does not reach the Meckel's cartilage

digestive/alimentary system
• at E14.5 the palatal shelves fail to elevate and fuse resulting in a deficiency in maxillary epithelium
• at E14.5 a bifurcate tongue is present

growth/size/body
• at E14.5 the palatal shelves fail to elevate and fuse resulting in a deficiency in maxillary epithelium
• at E14.5 a bifurcate tongue is present




Genotype
MGI:3589285
cx3
Allelic
Composition
Pitx1tm1Jdr/Pitx1tm1Jdr
Pitx2tm1Sac/Pitx2tm1Sac
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx1tm1Jdr mutation (0 available); any Pitx1 mutation (2 available)
Pitx2tm1Sac mutation (0 available); any Pitx2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• in about 60% of comparisons limb bud reduction is greater in double homozygotes than in single homozygotes
• in about 50% of mutants the reduction in limb bud size 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 somites in length rather than 3.5/4 somites as in wild-type embryos apparently the result of a loss of anterior bud mesenchyme
• digit one is lost; however, the autopod is otherwise normal
• progressive loss of hindlimb skeletal elements is seen in a gene dosage dependent manner with loss of the right digit 1 being most sensitive followed by the right tibia then right femur, a similar pattern is seen on the left side
• the right and left femurs are absent
• identification of the fibula is based on contact with the calcaneus

skeleton
• the right and left femurs are absent
• identification of the fibula is based on contact with the calcaneus

endocrine/exocrine glands
• Rathke's pouch fails to expand normally at E12.5; however pituitary size is normal in either single homozygote

nervous system
• Rathke's pouch fails to expand normally at E12.5; however pituitary size is normal in either single homozygote

embryo
• in about 60% of comparisons limb bud reduction is greater in double homozygotes than in single homozygotes
• in about 50% of mutants the reduction in limb bud size 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 somites in length rather than 3.5/4 somites as in wild-type embryos apparently the result of a loss of anterior bud mesenchyme




Genotype
MGI:3589451
cx4
Allelic
Composition
Pitx1tm1Jdr/Pitx1tm1Jdr
Pitx2tm1Sac/Pitx2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx1tm1Jdr mutation (0 available); any Pitx1 mutation (2 available)
Pitx2tm1Sac mutation (0 available); any Pitx2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• an intermediate reduction in the size of Rathke's pouch is seen compared to the double homozygote

nervous system
• an intermediate reduction in the size of Rathke's pouch is seen compared to the double homozygote




Genotype
MGI:3589452
cx5
Allelic
Composition
Pitx1tm1Jdr/Pitx1+
Pitx2tm1Sac/Pitx2tm1Sac
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx1tm1Jdr mutation (0 available); any Pitx1 mutation (2 available)
Pitx2tm1Sac mutation (0 available); any Pitx2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• an intermediate reduction in the size of Rathke's pouch is seen compared to the double homozygote

nervous system
• an intermediate reduction in the size of Rathke's pouch is seen compared to the double homozygote




Genotype
MGI:5298059
cx6
Allelic
Composition
Pitx1tm1Jdr/Pitx1tm1Jdr
Pitx2tm2Sac/Pitx2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx1tm1Jdr mutation (0 available); any Pitx1 mutation (2 available)
Pitx2tm2Sac mutation (0 available); any Pitx2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• reduced hindlimb bud
• extends across 2 somites centering on somite 27

limbs/digits/tail
• reduced hindlimb bud
• extends across 2 somites centering on somite 27
• failure of stylopod (femur) development

skeleton
• failure of stylopod (femur) development




Genotype
MGI:5298066
cx7
Allelic
Composition
Pitx1tm1Jdr/Pitx1tm1Jdr
Pitx2tm1Sac/Pitx2tm2Sac
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx1tm1Jdr mutation (0 available); any Pitx1 mutation (2 available)
Pitx2tm1Sac mutation (0 available); any Pitx2 mutation (15 available)
Pitx2tm2Sac mutation (0 available); any Pitx2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• both stylopod and autopod severely affected

limbs/digits/tail
• both stylopod and autopod severely affected





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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory