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Symbol
Name
ID
Pthlh
parathyroid hormone-like peptide
MGI:97800
Phenotype annotations related to skeleton
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Brachydactyly
Short metatarsal
Short metacarpal
Disease(s) Associated with PTHLH
brachydactyly type E2

Mouse Phenotypes
skeleton phenotype
increased chondrocyte apoptosis
increased osteocyte apoptosis
increased osteoblast apoptosis
abnormal osteoblast differentiation
decreased chondrocyte proliferation
abnormal cranium morphology
failure of tooth eruption
abnormal mandible morphology
short mandible
domed cranium
decreased osteoclast cell number
abnormal osteoclast morphology
short humerus
short radius
short ulna
short femur
short tibia
abnormal long bone morphology
abnormal clavicle morphology
abnormal long bone epiphyseal plate morphology
abnormal long bone epiphyseal plate proliferative zone
abnormal long bone hypertrophic chondrocyte zone
increased width of hypertrophic chondrocyte zone
decreased long bone epiphyseal plate size
disorganized long bone epiphyseal plate
abnormal long bone metaphysis morphology
decreased length of long bones
increased diameter of long bones
abnormal sternum ossification
short sternum
abnormal axial skeleton morphology
abnormal rib morphology
abnormal cervical rib
short ribs
splayed ribs
abnormal thoracic cage shape
kyphosis
abnormal vertebral body morphology
abnormal bone structure
decreased bone mineral density
increased compact bone thickness
abnormal osteoblast morphology
decreased osteoblast cell number
increased osteoblast cell number
abnormal trabecular bone morphology
abnormal bone trabecula morphology
osteoporosis
increased bone mass
abnormal cartilage development
decreased chondrocyte number
abnormal skeleton development
chondrodystrophy
abnormal bone ossification
abnormal bone mineralization
premature endochondral bone ossification
premature bone ossification
Availability Mouse Genotype
Pthlhtm1a(KOMP)Wtsi/Pthlhtm1a(KOMP)Wtsi
Pthlhtm1Broa/Pthlhtm1Broa
Pthlhtm1Fbe/Pthlhtm1Fbe
Pthlhtm1Hmk/Pthlhtm1Hmk
Pthlhtm2Ack/Pthlhtm2Ack *
Pthlhtm1a(KOMP)Wtsi/Pthlh+
Pthlhtm1Hmk/Pthlh+
Pthlhtm1Ack/Pthlhtm1Ack
Tg(Col1a1-cre)1Ack/0  (conditional)
Pthlhtm1Ack/Pthlhtm1.1Ack
Tmem163Tg(ACTB-cre)2Mrt/0  (conditional)
Pthlhtm1Ack/Pthlhtm1Hmk
Tmem163Tg(ACTB-cre)2Mrt/0  (conditional)
Pthlhtm1Ack/Pthlhtm1Hmk
Tg(LGB-cre)74Acl/0  (conditional)

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
04/30/2024
MGI 6.23
The Jackson Laboratory