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Symbol
Name
ID
Pitx1
paired-like homeodomain transcription factor 1
MGI:107374
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Enlarged cisterna magna
Preaxial foot polydactyly
Mirror image foot polydactyly
Absent tibia
Patellar hypoplasia
Popliteal pterygium
Disease(s) Associated with PITX1
clubfoot

Mouse Phenotypes
abnormal Meckel's cartilage morphology
small mandible
short mandible
micrognathia
abnormal middle ear ossicle morphology
absent gonial bone
fused phalanges
abnormal tarsal bone morphology
abnormal femur morphology
short femur
abnormal fibula morphology
abnormal tibia morphology
short tibia
absent patella
absent sesamoid bone of gastrocnemius
abnormal long bone epiphyseal plate morphology
increased width of hypertrophic chondrocyte zone
abnormal pelvic girdle bone morphology
absent ilium
small ischium
small pubis
vertebral transformation
decreased bone volume
abnormal cartilage morphology
abnormal joint morphology
Availability Mouse Genotype
Pitx1tm1Jdr/Pitx1tm1Jdr
Pitx1tm1Rsd/Pitx1tm1Rsd
Pitx1em1(IMPC)Wtsi/Pitx1+
Pitx1tm1Rsd/Pitx1+

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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory