All Phenotypes Pitx1<tm1Jdr> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pitx1^tm1Jdr/Pitx1^tm1Jdr	involves: 129S1/Sv * 129X1/SvJ	MGI:3589286
hm2	Pitx1^tm1Jdr/Pitx1^tm1Jdr	involves: 129S1/Sv * 129X1/SvJ * BALB/c	MGI:2168288
cx3	Pitx1^tm1Jdr/Pitx1^tm1Jdr Pitx2^tm1Sac/Pitx2⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:3589451
cx4	Pitx1^tm1Jdr/Pitx1⁺ Pitx2^tm1Sac/Pitx2^tm1Sac	involves: 129S1/Sv * 129X1/SvJ	MGI:3589452
cx5	Pitx1^tm1Jdr/Pitx1^tm1Jdr Pitx2^tm2Sac/Pitx2⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:5298059
cx6	Pitx1^tm1Jdr/Pitx1^tm1Jdr Pitx2^tm1Sac/Pitx2^tm2Sac	involves: 129S1/Sv * 129X1/SvJ	MGI:5298066
cx7	Pitx1^tm1Jdr/Pitx1^tm1Jdr Pitx2^tm1Sac/Pitx2^tm1Sac	involves: 129S1/Sv * 129X1/SvJ	MGI:3589285

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx1^tm1Jdr mutation (0 available); any Pitx1 mutation (10 available)

♀	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

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

mortality/aging

perinatal lethality, complete penetrance ( J:52671 )

• homozygotes die at birth

limbs/digits/tail

abnormal hindlimb morphology ( J:52671 )

• hindlimb structures affected are all on the dorsal side and proximal structures are more severely affected than distal structures

short femur ( J:52671 )

• 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

abnormal tibia morphology ( J:52671 )

• calcification of the tibia is severely reduced with narrower cortical bone and reduced trabecular bone

short tibia ( J:52671 )

• the tibia is shorter and narrower and is comparable in size to the fibula

absent patella ( J:52671 )

• the knee joints lack a distinct patella

short hindlimb ( J:52671 )

• hindlimbs are shorter than normal

• forelimbs are normal

absent sesamoid bone of gastrocnemius ( J:52671 )

• the knee joints lack a distinct fabella

skeleton

micrognathia ( J:52671 )

• seen at E14.5

abnormal middle ear ossicle morphology ( J:52671 )

absent gonial bone ( J:52671 )

• no evidence of the gonial bone can be found

short femur ( J:52671 )

• 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

abnormal tibia morphology ( J:52671 )

• calcification of the tibia is severely reduced with narrower cortical bone and reduced trabecular bone

short tibia ( J:52671 )

• the tibia is shorter and narrower and is comparable in size to the fibula

absent patella ( J:52671 )

• the knee joints lack a distinct patella

absent sesamoid bone of gastrocnemius ( J:52671 )

• the knee joints lack a distinct fabella

abnormal pelvic girdle bone morphology ( J:52671 )

• 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

absent ilium ( J:52671 )

• the ilium is absent or consists only of cartilaginous remnants

small ischium ( J:52671 )

• slightly smaller

small pubis ( J:52671 )

• pubic bone is slightly smaller

abnormal cartilage morphology ( J:52671 )

• the cartilage of the distal femur and tibia heads is greatly reduced

abnormal Meckel's cartilage morphology ( J:52671 )

• abnormal bone formation is seen around the Meckel's cartilage all the way up to the malleus

abnormal long bone epiphyseal plate morphology ( J:52671 )

• 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

increased width of hypertrophic chondrocyte zone ( J:52671 )

• at the distal end of the tibia the hypertrophic chondrocytes are enlarged and their layer is expanded

craniofacial

abnormal Meckel's cartilage morphology ( J:52671 )

• abnormal bone formation is seen around the Meckel's cartilage all the way up to the malleus

micrognathia ( J:52671 )

• seen at E14.5

abnormal middle ear ossicle morphology ( J:52671 )

absent gonial bone ( J:52671 )

• no evidence of the gonial bone can be found

cleft secondary palate ( J:52671 )

failure of palatal shelf elevation ( J:52671 )

• at E14.5 the palatal shelves fail to elevate and fuse resulting in a deficiency in maxillary epithelium

bifurcated tongue ( J:52671 )

• at E14.5 a bifurcate tongue is present

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:52671 )

absent gonial bone ( J:52671 )

• no evidence of the gonial bone can be found

decreased tympanic ring size ( J:52671 )

• the tympanic bone does not reach the Meckel's cartilage

digestive/alimentary system

cleft secondary palate ( J:52671 )

failure of palatal shelf elevation ( J:52671 )

• at E14.5 the palatal shelves fail to elevate and fuse resulting in a deficiency in maxillary epithelium

bifurcated tongue ( J:52671 )

• at E14.5 a bifurcate tongue is present

growth/size/body

cleft secondary palate ( J:52671 )

failure of palatal shelf elevation ( J:52671 )

• at E14.5 the palatal shelves fail to elevate and fuse resulting in a deficiency in maxillary epithelium

bifurcated tongue ( J:52671 )

• at E14.5 a bifurcate tongue is present

Allelic Composition	Pitx1^tm1Jdr/Pitx1^tm1Jdr Pitx2^tm1Sac/Pitx2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx1^tm1Jdr mutation (0 available); any Pitx1 mutation (10 available)
Pitx2^tm1Sac mutation (0 available); any Pitx2 mutation (38 available)

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

endocrine/exocrine glands

small Rathke's pouch ( J:73774 )

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

nervous system

small Rathke's pouch ( J:73774 )

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

Allelic Composition	Pitx1^tm1Jdr/Pitx1⁺ Pitx2^tm1Sac/Pitx2^tm1Sac
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

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

endocrine/exocrine glands

small Rathke's pouch ( J:73774 )

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

nervous system

small Rathke's pouch ( J:73774 )

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

Allelic Composition	Pitx1^tm1Jdr/Pitx1^tm1Jdr Pitx2^tm2Sac/Pitx2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx1^tm1Jdr mutation (0 available); any Pitx1 mutation (10 available)
Pitx2^tm2Sac mutation (0 available); any Pitx2 mutation (38 available)

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

embryo

small hindlimb buds ( J:80020 )

• reduced hindlimb bud

• extends across 2 somites centering on somite 27

limbs/digits/tail

small hindlimb buds ( J:80020 )

• reduced hindlimb bud

• extends across 2 somites centering on somite 27

absent femur ( J:80020 )

• failure of stylopod (femur) development

skeleton

absent femur ( J:80020 )

• failure of stylopod (femur) development

Allelic Composition	Pitx1^tm1Jdr/Pitx1^tm1Jdr Pitx2^tm1Sac/Pitx2^tm2Sac
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

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

embryo

small limb buds ( J:80020 )

• both stylopod and autopod severely affected

limbs/digits/tail

small limb buds ( J:80020 )

• both stylopod and autopod severely affected

Allelic Composition	Pitx1^tm1Jdr/Pitx1^tm1Jdr Pitx2^tm1Sac/Pitx2^tm1Sac
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

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

limbs/digits/tail

small limb buds ( J:80020 )

• 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

oligodactyly ( J:80020 )

• digit one is lost; however, the autopod is otherwise normal

abnormal hindlimb morphology ( J:80020 )

• 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

absent femur ( J:80020 )

• the right and left femurs are absent

abnormal fibula morphology ( J:80020 )

• identification of the fibula is based on contact with the calcaneus

absent tibia ( J:80020 )

skeleton

absent femur ( J:80020 )

• the right and left femurs are absent

abnormal fibula morphology ( J:80020 )

• identification of the fibula is based on contact with the calcaneus

absent tibia ( J:80020 )

endocrine/exocrine glands

abnormal Rathke's pouch development ( J:73774 )

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

nervous system

abnormal Rathke's pouch development ( J:73774 )

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

embryo

small limb buds ( J:80020 )

• 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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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