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Phenotypes Associated with This Genotype
Genotype
MGI:3583956
Allelic
Composition
Pthlhtm1Hmk/Pthlhtm1Hmk
Genetic
Background
either: (involves: 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die immediately after birth

respiratory system
• mice make feeble attempts to breathe

homeostasis/metabolism
• skin remains bluish-grey until death

skeleton
• long bones are shorter, thicker, and deformed with mildy splayed ends
• irregular metaphyseal margins in the long bones
• the thoracic cage is narrow and bell-shaped
• smaller in height and exhibit advanced ossification involving both the vertebral bodies and the articular processes
• bony trabeculae of the primary spongiosa are shortened and distorted
• zone of resting chondrocytes and the zones of proliferation and maturation are shortened, however the numbers of multinucleated chondroclasts and osteoclasts are normal
• columns of proliferating chondrocytes are shorter and irregularly arranged
• cartilage primorida of the ulna and radious are deformed and shortened at E14.5 but not at E12.5
• exhibit osteochondrodysplasia
• excessive/advanced mineralization
• exhibit acceleration of the normal endochondral ossification process and also abnormal maturation of hyaline rib chondrocytes with associated perichondral ossification

limbs/digits/tail

craniofacial

digestive/alimentary system

growth/size/body

Mouse Models of Human Disease
OMIM ID Ref(s)
Achondroplasia; ACH 100800 J:16911


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory