Phenotypes Associated with This Genotype

Genotype
MGI:3583956

• Allelic Composition: Pthlh^tm1Hmk/Pthlh^tm1Hmk
• Genetic Background: either: (involves: 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)

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

mortality/aging

perinatal lethality, complete penetrance ( J:16911 )

• mice die immediately after birth

respiratory system

respiratory failure ( J:16911 )

• mice make feeble attempts to breathe

homeostasis/metabolism

cyanosis ( J:16911 )

• skin remains bluish-grey until death

skeleton

abnormal long bone morphology ( J:16911 )

• long bones are shorter, thicker, and deformed with mildy splayed ends

abnormal long bone metaphysis morphology ( J:16911 )

• irregular metaphyseal margins in the long bones

decreased length of long bones ( J:16911 )

increased diameter of long bones ( J:16911 )

abnormal axial skeleton morphology ( J:16911 )

short mandible ( J:16911 )

domed cranium ( J:16911 )

short sternum ( J:16911 )

abnormal rib morphology ( J:16911 )

short ribs ( J:16911 )

splayed ribs ( J:16911 )

abnormal thoracic cage shape ( J:16911 )

• the thoracic cage is narrow and bell-shaped

abnormal vertebral body morphology ( J:16911 )

• smaller in height and exhibit advanced ossification involving both the vertebral bodies and the articular processes

abnormal bone trabecula morphology ( J:16911 )

• bony trabeculae of the primary spongiosa are shortened and distorted

abnormal skeleton development ( J:16911 )

abnormal long bone epiphyseal plate morphology ( J:16911 )

• zone of resting chondrocytes and the zones of proliferation and maturation are shortened, however the numbers of multinucleated chondroclasts and osteoclasts are normal

abnormal long bone epiphyseal plate proliferative zone ( J:16911 )

• columns of proliferating chondrocytes are shorter and irregularly arranged

abnormal cartilage development ( J:16911 )

• cartilage primorida of the ulna and radious are deformed and shortened at E14.5 but not at E12.5

chondrodystrophy ( J:16911 )

• exhibit osteochondrodysplasia

abnormal bone mineralization ( J:16911 )

• excessive/advanced mineralization

premature endochondral bone ossification ( J:16911 )

• exhibit acceleration of the normal endochondral ossification process and also abnormal maturation of hyaline rib chondrocytes with associated perichondral ossification

limbs/digits/tail

short limbs ( J:16911 )

craniofacial

short mandible ( J:16911 )

domed cranium ( J:16911 )

protruding tongue ( J:16911 )

short snout ( J:16911 )

digestive/alimentary system

protruding tongue ( J:16911 )

growth/size/body

protruding tongue ( J:16911 )

short snout ( J:16911 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:16911
Albright's hereditary osteodystrophy		DOID:0080053	OMIM:103580	J:16911